New Syndromes
1999 First Publications
Genetic Center
Filatov's Child Clinical Hospital © 2001-2004
Vladimir Solonichenko MD, Clinical Geneticist,©
E-mail:
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06.16.2004
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REFERENCES
- FIRST PUBLICATIONS 1999 |
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| 1 |
Achermann Sibylla, Remo Largo, Dieter
Kotzot, Mariluce Riegel, Albert Schinzel Short stature, myopia, severe developmental
delay, and peculiar facial appearance in two brothers: A new syndrome? Am J Med
Genet., 86(5):486-491,1999 |
Abstract |
Synopsis |
| 2 |
ABDEL-SALAM Ghada M.E., M. BUCSEK and
A.E. CZEIZEL. Alopecia Universalis, Cleft Palate and Lip, Hypohydrosis, Hypodontia,
Nail Dysplasia and Syndactyly: New Ectodermal Dysplasia Syndrome? Cong. Anom.,
39: 37-42, 1999 |
Abstract |
Synopsis |
| 3 |
Abidi F, Hall BD, Cadle RG, Feldman
GL, Lubs HA, Ouzts LV, Arena JF, Stevenson RE, Schwartz CE. X-linked mental
retardation with variable stature, head circumference, and testicular volume linked
to Xq12-q21. Am J Med Genet 1999 Jul;85(3):223-229 |
Abstract |
Synopsis |
| 4 |
Adachi M, Tachibana K, Asakura Y, Suwa
S, Nishimura G. A male patient presenting with major clinical symptoms of
glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible
with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene
mutations. Endocr J 1999 Apr;46(2):285-92 |
Abstract |
Synopsis |
| 5 |
Ades LC, Davies R, Haan EA, Holman
KJ, Watson KC, Sreetharan D, Cao SN, Milewicz DM, Bateman JF, Chiodo AA, Eccles
M, McNoe L, Harbord M. Aortic dissection, patent ductus arteriosus, iris hypoplasia
and brachytelephalangy in a male adolescent.Clin Dysmorphol 1999 Oct;8(4):269-76
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Abstract |
Synopsis |
| 6 |
Aftimos S, Winship I. A patient
with VACTERL association, amelia and hemifacial microsomia. Clin Dysmorphol 1999
Apr;8(2):135-7 |
Abstract |
Synopsis |
| 7 |
Agarwala S, Goswami JK, Mitra DK.
Pyloric atresia associated with epidermolysis bullosa, malrotation, and high anorectal
malformation with recto-urethral fistula: a report of successful management. Pediatr
Surg Int 1999;15(3-4):264-5 |
Abstract |
Synopsis |
| 8 |
Ahmad Wasim, Maurizio De Fusco, Muhammad
Faiyaz ul Haque, Paolo Aridon, Tiziana Sarno, Muhammad Sohail, Sayed ul Haque,
Mahmud Ahmad, Andrea Ballabio, Brunella Franco & Giorgio Casari. Linkage
mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated
with obesity. Eur J Hum Genet., 1999, 7(7):828 - 832 |
Abstract |
Synopsis |
| 9 |
al-Gazali LI, Bakalinova D, Aziz S,
Anwer O, Shather W, Sztriha L. Hypocalvaria associated with intrauterine growth
retardation, facial dysmorphism, congenital heart disease and camptomelia.Clin
Dysmorphol 1999, 8(2):129-134 |
Abstract |
Synopsis |
| 10 |
Al-Gazali LI, Sztriha L, Punnose J,
Shather W, Nork M. Absent pituitary gland and hypoplasia of the cerebellar
vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant
of orofaciodigital syndrome VI or a new syndrome? J Med Genet 1999, 36(2):161-166
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Abstract |
Synopsis |
| 11 |
Amiel Jeanne, Valérie Cormier-Daire,
Pierre Journeau, Philippe Mussat, Arnold Munnich, Stanislas Lyonnet. Epiphyseal,
vertebral, and ear (EVE) dysplasia: a new syndrome? J Med Genet 1999;36:561-564
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Abstract |
Synopsis |
| 12 |
Amirlak Iradj, Sharda G Sabnis, Lihadh
Al-Gazali, Yousef M Abdulrazzaq. A syndrome of immune complex glomerulonephritis
and ophthalmic abnormalities. J Med Genet 1999;36:641-644 |
Abstract |
Synopsis |
| 13 |
Angelicheva Dora, Ivailo Turnev, Danielle
Dye, David Chandler, PK Thomas & Luba Kalaydjieva. Congenital cataracts
facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder
in Gypsies maps to 18qter. Eur J Hum Genet., 1999, 7(5):560 - 566 |
Abstract |
Synopsis |
| 14 |
Armfield Kim, Retecher Nelson, Herbert
A. Lubs, Bernhard Häne, Richard J. Schroer, Fernando Arena, Charles E. Schwartz,
Roger E. Stevenson. X-linked mental retardation syndrome with short stature,
small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.
Am J Med Genet 1999, 85(3):236-242 |
Abstract |
Synopsis |
| 15 |
Aurora P, and Wallis C.E. Jeune
syndrome (asphyxiating thoracic dystrophy) associated with Hirschprung disease.
Clin Dysmorph., 1999, 8(4):259-263 |
Abstract |
Synopsis |
| 16 |
Autti T, Muttilainen M, Raininko R,
Heiskala H, Puranen J, Hakkinen AM, Tienari P, Santavuori P, Suominen P, Somer
M. Extensive cerebral white matter abnormality without clinical symptoms:
a new hereditary condition? Ann Neurol 1999, 45(6):801-805 |
Abstract |
Synopsis |
| 17 |
Balci S, Bostanoglu S, Altinok G, Ozaltin
F. Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic
dysplasia, and cysts: A new syndrome? Am J Med Genet., 1999, 82(2):166-169 |
Abstract |
Synopsis |
| 18 |
Bartsch Oliver, Annett Wagner, Georg
K Hinkel, Petra Krebs, Markus Stumm, Bernhard Schmalenberger, Sabine Bohm, Sevim
Balci & Frank Majewski, FISH studies in 45 patients with Rubinstein-Taybi
syndrome: deletions associated with polysplenia, hypoplastic left heart and death
in infancy. European Journal of Human Genetics, 1999, 7, 7, pp 748 - 756 |
Abstract |
Synopsis |
| 19 |
Bercedo A, Cabero MJ, Garcia-Consuegra
J, Hernado M, Yaez S, Fernandez-Llaca H. GENERALIZED LICHEN NITIDUS AND JUVENILE
CHRONIC ARTHRITIS: AN UNDESCRIBED ASSOCIATION. Pediatr Dermatol 1999 Sep;16(5):406-425
(letter) |
Abstract |
Synopsis |
| 20 |
Berkenstadt Michal, Dorit Lev, Reuven
Achiron, Mordechay Rosner, Gad Barkai. Pulmonary agenesis, microphthalmia,
and diaphragmatic defect (PMD): New syndrome or association? Am. J. Med. Genet.
86(1):6-8, 1999 |
Abstract |
Synopsis |
| 21 |
Bettinelli A, Rusconi R, Ciarmatori
S, Righini V, Zammarchi E, Donati MA, Isimbaldi C, Bevilacqua M, Cesareo L, Tedeschi
S, Garavaglia R, Casari G. Gitelman disease associated with growth hormone
deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary
renal tubular-pituitary syndrome? Pediatr Res 1999 Aug;46(2):232-8 |
Abstract |
Synopsis |
| 22 |
Bohring A, Silengo M, Lerone M, Superneau
DW, Spaich C, Braddock SR, Poss A, Opitz JM. Severe end of Opitz trigonocephaly
(C) syndrome or new syndrome? Am J Med Genet 1999 Aug;85(5):438-446 |
Abstract |
Synopsis |
| 23 |
Boles RG. Cleft palate, ptosis,
digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis
variant? Clin Dysmorphol 1999 Jan;8(1):63-5 |
Abstract |
Synopsis |
| 24 |
Bonneau Dominigue, Martine Maréchaud,
Sylvie Odent, Isabelle Piegay, Alain Godard, Patrizia Amati. Heterotaxy-neural
tube defect and holoprosencephaly occurring independently in two sib fetuses.
Am. J. Med. Genet. 84:373-376, 1999. |
Abstract |
Synopsis |
| 25 |
Brodie Steven G, Ralph S. Lachman,
Margaret M. McGovern, Pertchoui B. Mekikian, William R. Wilcox. Lethal osteosclerotic
skeletal dysplasia with intracellular inclusion bodies. Am. J. Med. Genet. 83:372-377,
1999 |
Abstract |
Synopsis |
| 26 |
Calin George, Juul Wijnen, Heleen van
der Klift, Ana Ionita, Adri Mulder, Cor Breukel, Ron Smits, Hans Dauwerse, Kerstin
Hansson, Steliana Calin, Dragos Stefanescu, Alexandru Oproiu & Riccardo Fodde.
Marfan-like habitus and familial adenomatous polyposis in two unrelated males:
a significant association? European Journal of Human Genetics, 1999, 7, 5, pp
609 - 614 |
Abstract |
Synopsis |
| 27 |
Cario H, Bode H, Gustavsson P, Dahl
N, Kohne E. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan
anemia associated with macrocephaly, hypotonia, and psychomotor retardation.Clin
Genet 1999, 55(6):487-492 |
Abstract |
Synopsis |
| 28 |
Carpenter Nancy J, Yong Qu, Mary Curtis,
Shivanand R. Patil. X-linked mental retardation syndrome with characteristic
coarse facial appearance, brachydactyly, and short stature maps to proximal Xq.
Am. J. Med. Genet. 85:230-235, 1999 |
Abstract |
Synopsis |
| 29 |
Castriota-Scanderbeg Alessandro, Leopoldo
Zelante, Salvatore Masala, Paolo Gasparini, Ralph S. Lachman. Acrodysplasia,
severe ossification abnormalities with short stature, and fibular hypoplasia.
Am. J. Med. Genet. 84:68-73, 1999 |
Abstract |
Synopsis |
| 30 |
Christianson Arnold L, Roger E Stevenson,
C H van der Meyden, Julie Pelser, Francois W Theron, Petro L van Rensburg, Michael
Chandler, Charles E Schwartz. X linked severe mental retardation, craniofacial
dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South
African kindred is localised to Xq24-q27. J Med Genet 1999;36:759-766 |
Abstract |
Synopsis |
| 31 |
Chudley Albert E, D.C. Tackels, Herbert
A. Lubs, J. Fernando Arena, Wendi P. Stoeber, Sylvia Kovnats, Roger E. Stevenson,
Charles E. Schwartz. X-linked mental retardation syndrome with seizures, hypogammaglobulinemia,
and progressive gait disturbance is regionally mapped between Xq21.33 and Xq23.
Am. J. Med. Genet. 85:255-262, 1999 |
Abstract |
Synopsis |
| 32 |
Chung WY, Chung LP. A case of oral-facial-digital
syndrome with overlapping manifestations of type V and type VI: a possible new
OFD syndrome. Pediatr Radiol 1999 Mar 30;29(4):268-271 |
Abstract |
Synopsis |
| 33 |
Cohen PA, Kalifa G, Donoghue V, Adamsbaum
C, Haddad F, Dubousset J. Ischio-vertebral dysplasia: a distinct entity. Pediatr
Radiol 1999 Feb;29(2):131-4 |
Abstract |
Synopsis |
| 34 |
Corona-Rivera Roman J, Enrique Corona-Rivera,
Alfredo Corona-Rivera, Moises Quiles-Corona, Ezequiel Velez-Gómez, Marco
A. Arana-Gutiérrez. Infant with manifestations of oto-palato-digital
syndrome type II and of Melnick-Needles syndrome. Am J Med Genet., 85,1, 1999,
pp 79-81 (letter) |
Abstract |
Synopsis |
| 35 |
Criado German Rodriguez, Antonio Pérez
Aytés. Mobius sequence, hypogenitalism, cerebral, and skeletal malformations
in two brothers. Am. J. Med. Genet. 86:492-496, 1999 |
Abstract |
Synopsis |
| 36 |
Dacou-Voutetakis C, Bazopoulou-Kyrkanidou
E, Kyrkanides S, Pangalos C, Apostolakis A. Growth retardation, distinct oriental-like
facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder.
An unknown entity. Genet Couns 1999;10(3):245-50 |
Abstract |
Synopsis |
| 37 |
De Jonghe Peter, Vincent Timmerman,
Eva Nelis, Els De Vriendt, Ann Löfgren, Chantal Ceuterick, Jean-Jacques Martin,
Christine Van Broeckhoven. A Novel Type of Hereditary Motor and Sensory Neuropathy
Characterized by a Mild Phenotype. Arch Neurol. 1999;56:1283-1288 |
Abstract |
Synopsis |
| 38 |
de Ravel TJ, Berkowitz DE, Wagner JM,
Jenkins T. Brachydactyly type B with its distinct facies and 'Cooks syndrome'
are the same entity. Clin Dysmorphol 1999 Jan;8(1):41-5 |
Abstract |
Synopsis |
| 39 |
Degner D, Bleich S, Riegel A, Ruther
E, [Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological
findings]. Fortschr Neurol Psychiatr 1999 Dec;67(12):525-8 [Article in German] |
Abstract |
Synopsis |
| 40 |
Di Landro A, Tadini GL, Marchesi L,
Cainelli T. Phakomatosis pigmentovascularis: A new case with renal angiomas
and some considerations about the classification. Pediatr Dermatol 1999 Jan-Feb;16(1):25-30
|
Abstract |
Synopsis |
| 41 |
Di Rocco M, Arslanian A, Romanengo
M, Dagna-Bricarelli F, Borrone C. Ataxia, ocular telangiectasia, chromosome
instability, and Langerhans cell histiocytosis in a patient with an unknown breakage
syndrome. J Med Genet 1999 Feb;36(2):159-60 |
Abstract |
Synopsis |
| 42 |
Dobyns William B, Elizabeth Berry-Kravis,
Nancy J. Havernick, Kenton R. Holden, David Viskochil. X-linked lissencephaly
with absent corpus callosum and ambiguous genitalia. Am. J. Med. Genet. 86(4):331-337,
1999. |
Abstract |
Synopsis |
| 43 |
Dourmishev AL, Dourmishev LA, Schwartz
RA, Janniger CK. Waardenburg's syndrome with facial palsy and lingua plicata:
is that a new type of disease? Cutis 1999 Mar;63(3):139-41 |
Abstract |
Synopsis |
| 44 |
Enns Gregory M, Elizabeth Roeder, Ruth
T. Chan, Zohra Ali-Khan Catts, Victoria A. Cox, Mahin Golabi. Apparent cyclophosphamide
(cytoxan) embryopathy: A distinct phenotype? Am. J. Med. Genet. 86:237-241, 1999. |
Abstract |
Synopsis |
| 45 |
Faivre Laurence, Anne-Lise Delezoide,
Françoise Narcy, Féréchté Razavi, Raymonde Bouvier, Valérie
Cormier-Daire, Marie-Louise Briard, Stanislas Lyonnet, Michel Vekemans, Arnold
Munnich, Martine Le Merrer. A new lethal syndrome of exomphalos, short limbs,
and macrogonadism. J Med Genet 1999;36(2):131-136 |
Abstract |
Synopsis |
| 46 |
Fryns JP, Dumoulin M, Hens G. Progeroid
syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts,
calcification of basal ganglia and atrium septum defect type 2 Genet Couns 1999;10(4):395-8
|
Abstract |
Synopsis |
| 47 |
Fujiwara Ikawa, Yoshiaki Kondo, Kazuie
Iinuma. Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial
ray hypoplasia of the limbs, and vagino-cystic communication: A new variant? Am.
J. Med. Genet. 83(2):77-81, 1999 |
Abstract |
Synopsis |
| 48 |
Gelb Bruce D, Jian Zhang, Robert J.
Sommer, Jared M. Wasserman, Milton J. Reitman, Judith P. Willner. Familial
patent ductus arteriosus and bicuspid aortic valve with hand anomalies: A novel
heart-hand syndrome. J. Med. Genet. 87(2):175-179, 1999 |
Abstract |
Synopsis |
| 49 |
Gentile M, Fiorente P. Esophageal,
duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic
pancreas, and hypospadias: further evidence of a new distinct syndrome. Am J Med
Genet 1999 Nov 5;87(1):82-3 (letter) |
Abstract |
Synopsis |
| 50 |
Grosso S, Cioni M, Pucci L, Morgese
G, Balestri P. Selective mutism, speech delay, dysmorphisms, and deletion
of the short arm of chromosome 18: a distinct entity? J Neurol Neurosurg Psychiatry
1999 Dec;67(6):830-1 (letter) |
Abstract |
Synopsis |
| 51 |
Guion-Almeida Maria Leine, Roseli Maria
Zechi-Ceide, Antonio Richieri-Costa. Multiple congenital anomalies syndrome:
Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate,
camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.
Am. J. Med. Genet. 87:72-77, 1999 |
Abstract |
Synopsis |
| 52 |
Guion-Almeida ML, Richieri-Costa A.
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia,
mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol
1999 Jan;8(1):1-4 |
Abstract |
Synopsis |
| 53 |
Guion-Almeida ML, Richieri-Costa A.
New syndrome of growth and mental retardation, structural anomalies of the
central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia,
and atypical clefting: report on four Brazilian patients. Am J Med Genet 1999
Nov 26;87(3):237-44 |
Abstract |
Synopsis |
| 54 |
Hameed R, Bissenden JG, Webb WR, Cole
TR. An apparently new acrocraniofacial syndrome with cranial nerve and visceral
anomalies. Clin Dysmorphol 1999 Jul;8(3):199-202 |
Abstract |
Synopsis |
| 55 |
Hamel Ben CJ, Pieter Wesseling, Willy
O Renier, Bellinda van den Helm, Hans-Hilger Ropers, Hannie Kremer, Edwin C M
Mariman. A new X linked neurodegenerative syndrome with mental retardation,
blindness, convulsions, spasticity, mild hypomyelination, and early death maps
to the pericentromeric region. J Med Genet 1999;36(2):140-143 |
Abstract |
Synopsis |
| 56 |
Happle R, Kuster W. Nevus psiloliparus:
a distinct fatty tissue nevus. Dermatology 1998;197(1):6-10 |
Abstract |
Synopsis |
| 57 |
Happle Rudolf. Elattoproteus syndrome:
Delineation of an inverse form of Proteus syndrome.Am. J. Med. Genet. 84:25-28,
1999 |
Abstract |
Synopsis |
| 58 |
Harth W, Linse R. Keratosis follicularis
spinulosa decalvans associated with patent ductus arteriosus and hypospadia in
an Asiatic patient. Hautarzt, 50(4):295-8 1999 |
Abstract |
Synopsis |
| 59 |
Hoveyda Nourieh, Julian P H Shield,
Christine Garrett, W K `Kling' Chong, Kathryn Beardsall, Esi Bentsi-Enchill, Harish
Mallya, Michael H Thompson. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis:
report of a new recessive syndrome. J Med Genet 1999;36:700-704 |
Abstract |
Synopsis |
| 60 |
Janssen HCJP, C Schaap, N Vandevijver,
P Moerman, C E M de Die-Smulders, J-P Fryns. Two sibs with microcephaly, hygroma
colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? J
Med Genet 1999;36(6):481-484 |
Abstract |
Synopsis |
| 61 |
Kato M, Takizawa N, Yamada S, Ito A,
Honma T, Hashimoto M, Saito E, Ohta T, Chikaoka H, Hayasaka K. Diffuse pachygyria
with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic
syndrome? Ann Neurol 1999 Oct;46(4):660-3 |
Abstract |
Synopsis |
| 62 |
Kawame H, Sugio Y, Fuyama Y, Hayashi
Y, Suzuki H, Kurosawa K, Maekawa K. Syndrome of microcephaly, Dandy-Walker
malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature
centromere division (PCD): report of a new case and review of the literature.
J Hum Genet 1999;44(4):219-24 |
Abstract |
Synopsis |
| 63 |
Kelly Thaddeus E, Kathy Amoroso, Merry
Ferre, John Blanco, Patricia Allinson, Thomas W. Prior. Spinal muscular atrophy
variant with congenital fractures. Am. J. Med. Genet. 87:65-68, 1999 |
Abstract |
Synopsis |
| 64 |
Kirk Edwin PE, Susan Arbuckle, Phillip
L. Ramm, Lesley C. Adès. Severe micrognathia, cleft palate, absent olfactory
tract, and abnormal rib development: Cerebro-costo-mandibular syndrome or a new
syndrome? Am. J. Med. Genet. 84:120-124, 1999 |
Abstract |
Synopsis |
| 65 |
Kirk EP, Wilson M. Dominant inheritance
of cleft palate with minor abnormalities of hands and feet: a new syndrome? Clin
Dysmorphol 1999 Jul;8(3):193-7 |
Abstract |
Synopsis |
| 66 |
Koyluoglu G, Percin EF. An infant
with situs inversus totalis, branchial cleft cyst and ectopic kidney: a new combination?
Clin Dysmorphol 1999 Jul;8(3):233-4 (letter) |
Abstract |
Synopsis |
| 67 |
Kozlowski K, Bieganski T, Gardner J,
Beighton P. Osteochondrodystrophies with marked platyspondyly and distinctive
peripheral anomalies. Pediatr Radiol 1999 Jan;29(1):1-5 |
Abstract |
Synopsis |
| 68 |
Kozlowski K, Czerminska-Kowalska A,
Kulczycka H, Rowinska E, Pronicka E. Dominantly inherited isolated hyperparathyroidism:
a syndromic association? Pediatr Radiol 1999 Jan;29(1):10-5 |
Abstract |
Synopsis |
| 69 |
Kozlowski K, Masel J. Mesomelic
dysplasia with periosteal thickening, radio-humeral dislocation, osteoporosis
and multiple fractures. Eur J Pediatr 1999 Apr;158(4):308-11 |
Abstract |
Synopsis |
| 70 |
Kumar D. A case of lateral facial
clefts with Fallot tetralogy, duodenal stenosis and intestinal malrotation: a
new multiple congenital anomaly syndrome? Clin Dysmorphol 1999 Jan;8(1):19-21
|
Abstract |
Synopsis |
| 71 |
Lacassie Yves, Marta I. Arriaza, M.
Caroline Duncan, Cristino Dijamco, Catherine McElveen, Paul F. Stahls III.
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia,
and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?
Am. J. Med. Genet. 84:90-93, 1999 |
Abstract |
Synopsis |
| 72 |
Limwongse Chanin, Richard E. Wyszynski,
Lois H. Dickerman, Nathaniel H. Robin. Microcephaly-lymphedema-chorioretinal
dysplasia: A unique genetic syndrome with variable expression and possible characteristic
facial appearance. Am. J. Med. Genet. 86:215-218, 1999 |
Abstract |
Synopsis |
| 73 |
Lindner TH, Njolstad PR, Horikawa Y,
Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction
and genital malformation associated with a partial deletion of the pseudo-POU
domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 1999 Oct;8(11):2001-8
|
Abstract |
Synopsis |
| 74 |
Lord RS, Chambers AJ. Familial carotid
body paragangliomas and sensorineural hearing-loss: a new syndrome. Cardiovasc
Surg 1999 Jan;7(1):134-8 |
Abstract |
Synopsis |
| 75 |
Lubke T, Marquardt T, von Figura K,
Korner C. A New Type of Carbohydrate-deficient Glycoprotein Syndrome Due to
a Decreased Import of GDP-fucose into the Golgi. J Biol Chem 1999 Sep 10;274(37):25986-25989
|
Abstract |
Synopsis |
| 76 |
Lubs Herbert, Fatima Abidi, Jo-Ann
Blaymore Bier, Diane Abuelo , Lisbeth Ouzts, Kytja Voeller, Eileen Fennell, Roger
E. Stevenson, Charles E. Schwartz, Fernando Arena. XLMR syndrome characterized
by multiple respiratory infections, hypertelorism, severe CNS deterioration and
early death localizes to distal Xq28. Am. J. Med. Genet. 85:243-248, 1999 |
Abstract |
Synopsis |
| 77 |
Medeiros LJ, Palmedo G, Krigman HR,
Kovacs G, Beckwith JB. Oncocytoid renal cell carcinoma after neuroblastoma:
a report of four cases of a distinct clinicopathologic entity. Am J Surg Pathol
1999 Jul;23(7):772-80 |
Abstract |
Synopsis |
| 78 |
Megarbane A, Choueiri R, Bleik J, Mezzina
M, Caillaud C. Microcephaly, microphthalmia, congenital cataract, optic atrophy,
short stature, hypotonia, severe psychomotor retardation, and cerebral malformations:
a second family with micro syndrome or a new syndrome? J Med Genet 1999 Aug;36(8):637-40
|
Abstract |
Synopsis |
| 79 |
Megarbane A, Khalil G, Waked N, Rotig
A, Caillaud C, Loiselet J. Two sibs with myoclonic epilepsy, congenital deafness,
macular dystrophy, and psychiatric disorders. Am J Med Genet 1999 Dec 3;87(4):289-93
|
Abstract |
Synopsis |
| 80 |
Mégarbané Andre, Edouard
Stephan, Roland Kassab, Ramzi Ashoush, Nabiha Salem, Patrice Bouvagnet, Jacques
Loiselet. Autosomal dominant secundum atrial septal defect with various cardiac
and noncardiac defects: A new midline disorder. Am. J. Med. Genet. 83(3):193-200,
1999 |
Abstract |
Synopsis |
| 81 |
Megarbane A, Farah CB, Nabbout R. Unknown
syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes
syndactyly, and mental retardation. Genet Couns 1999;10(2):183-8 |
Abstract |
Synopsis |
| 82 |
Mégarbané Andre, Soha Haddad-Zebouni,
Rima Nabbout, Antoine H. Khoury, Elias I. Traboulsi. Microcephaly, colobomatous
microphthalmia, short stature, and severe psychomotor retardation in two male
cousins: A new MCA/MR syndrome? Am J Med Genet 1999 Mar 12;83(2):82-7 |
Abstract |
Synopsis |
| 83 |
Mégarbané Andre, Valérie
Delague, Nabiha Salem, Jacques Loiselet. Autosomal recessive congenital cerebellar
hypoplasia and short stature in a large inbred family. Am J Med Genet 1999 Nov
5;87(1):88-90 (letter) |
Abstract |
Synopsis |
| 84 |
Mubashir MA, Sabry MA, Farah S, Haseeb
N, Quasrawi B, al-Busairi W, al-Dabbous R, al-Awadi SA, Farag TI. New syndromic
entity of situs inversus totalis. Clin Dysmorphol 1999 Jan;8(1):23-27 |
Abstract |
Synopsis |
| 85 |
Michaels L, Lee K, Manuja SL, Soucek
SO. Family with low-grade neuroendocrine carcinoma of salivary glands, severe
sensorineural hearing loss, and enamel hypoplasia. Am. J. Med. Genet. 83:183-186,
1999 |
Abstract |
Synopsis |
| 86 |
Mingarelli R, Mokini V, Scanderbeg
AC, Dallapiccola B. Brachycephalosyndactyly with ptosis, cataract, colobomas,
and linear areas of skin depigmentation. Clin Dysmorphol 1999 Jan;8(1):73-5 |
Abstract |
Synopsis |
| 87 |
Moog U, P Maroteaux, C T R M Schrander-Stumpel,
A van Ooij, J J P Schrander, J P Fryns. Two sibs with an unusual pattern of
skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal
dysplasia? J Med Genet 1999;36(11):856-858 |
Abstract |
Synopsis |
| 88 |
Mori Pier Giorgio, Manuela Priolo,
Margherita Lerone, Mirella Pasino, Francesco Caroli, Roberto Cusano, Marco Seri,
Margherita Cirillo Silengo. Congenital hypoplastic anaemia in a patient with
a new multiple congenital anomalies-mental retardation syndrome. Am. J. Med. Genet.
87(1):36-39, 1999 |
Abstract |
Synopsis |
| 89 |
Mubashir MA, Sabry MA, Farah S, Haseeb
N, Quasrawi B, al-Busairi W, al-Dabbous R, al-Awadi SA, Farag TI. New syndromic
entity of situs inversus totalis. Clin Dysmorphol 1999 Jan;8(1):23-7 |
Abstract |
Synopsis |
| 90 |
New MI, Nimkarn S, Brandon DD, Cunningham-Rundles
S, Wilson RC, Newfield RS, Vandermeulen J, Barron N, Russo C, Loriaux DL, O'Malley
B. Resistance to several steroids in two sisters. J Clin Endocrinol Metab
1999 Dec;84(12):4454-64 |
Abstract |
Synopsis |
| 91 |
Nisbet DL, Chitty LS, Rodeck CH, Scott
RJ. A new syndrome comprising vertebral anomalies and multicystic kidneys.Clin
Dysmorphol 1999 Jul;8(3):173-8 |
Abstract |
Synopsis |
| 92 |
Nishiki M, Murakami Y, Yamane Y, Kato
Y. Steroid-sensitive nephrotic syndrome, sarcoidosis and thyroiditis--a new
syndrome? Nephrol Dial Transplant 1999 Aug;14(8):2008-10 |
Abstract |
Synopsis |
| 93 |
Nishimura G, Kimizuka M, Shiro R, Nii
E, Nishiyama M, Kawano T, Kaku T, Kawada Y. Ischio-spinal dysostosis: a previously
unrecognised combination of malformations. Pediatr Radiol 1999 Mar;29(3):212-7 |
Abstract |
Synopsis |
| 94 |
Nishimura Gen, Nobuhiko Haga, Katsuhiko
Aoki, Minoru Hamazaki, Kazuhiko Taniguchi, Tsutomu Iwaya. New brittle bone
disorder: Report of a family with six affected individuals. Am. J. Med. Genet.
84(4):320-329, 1999 |
Abstract |
Synopsis |
| 95 |
Nowaczyk M.J.M, Sutcliffe T.L.
Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation:
Report of two sibs with a unique syndrome. Am. J. Med. Genet. 87:78-81, 1999.
|
Abstract |
Synopsis |
| 96 |
Oguzkurt P, Tanyel FC, Hicsonmez A.
Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct
entity? J Pediatr Surg 1999 Mar;34(3):504-6 |
Abstract |
Synopsis |
| 97 |
Orrico A; Hayek G; Burroni L. Autosomal
recessive syndrome of growth and mental retardation, seizures, retinal abnormalities,
and osteodysplasia with similarity to the Gurrieri syndrome. Am J Med Genet, 82(1):84-7
1999 |
Abstract |
Synopsis |
| 98 |
Peiffer Andy, Nanda Singh, Mark Leppert,
William B. Dobyns, John C. Carey. Microcephaly with simplified gyral pattern
in six related children. Am. J. Med. Genet. 84:137-144, 1999 |
Abstract |
Synopsis |
| 99 |
Percin EF, Percin S. A new combination:
short stature, congenital unilateral absence of the fibula, oligodactyly and trigonocephaly.
Clin Dysmorphol 1999 Jan;8(1):67-8 (letter) |
Abstract |
Synopsis |
| 100 |
Phadke SR, Pahi J, Pandey A, Agarwal
SS. Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap
with Ellis Van Creveld syndrome. Clin Dysmorphol 1999 Jul;8(3):185-8 |
Abstract |
Synopsis |
| 101 |
Pradhan M, Shubha R. Phadke, S. Jain,
S. S. Agarwal. Pachygyria/hypogenitalism: A monogenic syndrome. Am. J. Med.
Genet. 87:254-257, 1999 |
Abstract |
Synopsis |
| 102 |
Rauch Anita, Karla A. Feindt, Claire
O. Leonard, Joel A. Thompson, Robert O. Hoffman, Donnell J. Creel, John M. Opitz.
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light
fixation, retinal cone dystrophy, and seizures: The M syndrome. Am. J. Med. Genet.
82(2):194-198, 1999 |
Abstract |
Synopsis |
| 103 |
Renouil M, Fourmaintraux A, Cartault
F, Rodriguez D, Razafinarivo-Schoreitz S, Chaurand G, Wendling C, Bangui A, Ponsot
G. [Severe anorexia in infants in Reunion: a new autosomal recessive disease]?
Arch Pediatr 1999 Jul;6(7):725-34 |
Abstract |
Synopsis |
| 104 |
Reyniers E, Van Bogaert P, Peeters
N, Vits L, Pauly F, Fransen E, Van Regemorter N, Kooy RF. A New Neurological
Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps
to Chromosome Xp11. Am J Hum Genet 1999 Nov;65(5):1406-1412 |
Abstract |
Synopsis |
| 105 |
Robertson SP, Bankier A. Sotos syndrome
and cutis laxa. J Med Genet 1999 Jan;36(1):51-6 |
Abstract |
Synopsis |
| 106 |
Roifman CM. Antibody deficiency,
growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel
syndrome. Clin Genet 1999 Feb;55(2):103-9 |
Abstract |
Synopsis |
| 107 |
Seri M, Cusano R, Forabosco P, Cinti
R, Caroli F, Picco P, Bini R, Morra VB, De Michele G, Lerone M, Silengo M, Pela
I, Borrone C, Romeo G, Devoto M. Genetic mapping to 10q23.3-q24.2, in a large
italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal
reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999 Feb;64(2):586-93
|
Abstract |
Synopsis |
| 108 |
Service FJ, Natt N, Thompson GB, Grant
CS, van Heerden JA, Andrews JC, Lorenz E, Terzic A, Lloyd RV. Noninsulinoma
pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia
in adults independent of mutations in Kir6.2 and SUR1 genes. J Clin Endocrinol
Metab 1999 May;84(5):1582-9 |
Abstract |
Synopsis |
| 109 |
Shrimpton AE, Daly KM, Hoo JJ.
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably
short stature to Xq12-q21.31. Am J Med Genet 1999 May 28;84(3):293-9 |
Abstract |
Synopsis |
| 110 |
Siderius LE, Hamel BC, van Bokhoven
H, de Jager F, van den Helm B, Kremer H, Heineman-de Boer JA, Ropers HH, Mariman
EC. X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.
Am J Med Genet 1999 Jul;85(3):216-220 |
Abstract |
Synopsis |
| 111 |
Slaney SF, Chong WK, Winter RM.
A new syndrome of short stature, distinctive facial features and periventricular
grey matter heterotopia. Clin Dysmorphol 1999 Jan;8(1):5-9 |
Abstract |
Synopsis |
| 112 |
Slaney SF, Goodman FR, Eilers-Walsman
BL, Hall BD, Williams DK, Young ID, Hayward RD, Jones BM, Christianson AL, Winter
RM. Acromelic frontonasal dysostosis.Am J Med Genet 1999 Mar 12;83(2):109-16
|
Abstract |
Synopsis |
| 113 |
Slaney SF, Hall CM, Atherton DJ, Winter
RM. A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia.
Clin Dysmorphol 1999 Apr;8(2):79-85 |
Abstract |
Synopsis |
| 114 |
Slaney SF, Sprigg A, Davies NP, Hall
CM. Lethal micromelic short-rib skeletal dysplasia with triangular-shaped
humerus. Pediatr Radiol 1999 Nov;29(11):835-7 |
Abstract |
Synopsis |
| 115 |
Slavotinek A., and Clayton-Smith J.
A girl with ectodermal dysplasia, choanal atresia and polysyndactyly. Clin
Dysmorphol., 1999, 8(4):287-289 |
Abstract |
Synopsis |
| 116 |
Slee Jennie, Geoffrey Lam, Ian Walpole.
Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.
Am. J. Med. Genet. 84:330-333, 1999 |
Abstract |
Synopsis |
| 117 |
Stibler H, Gylje H, Uller A. A neurodystrophic
syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.Neuropediatrics
1999 Apr;30(2):90-2 |
Abstract |
Synopsis |
| 118 |
Stoll C, Eyer D. A syndrome of congenital
ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic
dystrophy.Ann Genet 1999;42(1):45-50 |
Abstract |
Synopsis |
| 119 |
Tavormina PL, Bellus GA, Webster MK,
Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth
JJ, Donoghue DJ, Thompson LM, Francomano CA. A novel skeletal dysplasia with
developmental delay and acanthosis nigricans is caused by a Lys650Met mutation
in the fibroblast growth factor receptor 3 gene. Am J Hum Genet 1999, 64(3):722-31
|
Abstract |
Synopsis |
| 120 |
Temple IK, Browne C, Hodgkins P.
Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome
associated with breakpoints at 2q37.2 and 7q36.3. Clin Dysmorphol 1999 Jul;8(3):157-63
|
Abstract |
Synopsis |
| 121 |
Thomson APJ, M Neugebauer, A Fryer.
Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary
condition? J Med Genet 1999;36:251-252 |
Abstract |
Synopsis |
| 122 |
Triggs-Raine B, Salo TJ, Zhang H, Wicklow
BA, Natowicz MR. Mutations in HYAL1, a member of a tandemly distributed multigene
family encoding disparate hyaluronidase activities, cause a newly described lysosomal
disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci U S A 1999 May 25;96(11):6296-300
|
Abstract |
Synopsis |
| 123 |
Tuerlings JH, Otten BJ, Hamilton CJ,
Brunner HG. Radial defects and testicular dysfunction: a new syndrome? Clin
Dysmorphol 1999 Jul;8(3):203-5 |
Abstract |
Synopsis |
| 124 |
van Bokhoven H, Jung M, Smits AP, van
Beersum S, R schendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC,
Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. Limb Mammary Syndrome:
A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot
Anomalies Maps to Human Chromosome 3q27. Am J Hum Genet 1999 Feb;64(2):538-546
|
Abstract |
Synopsis |
| 125 |
Vantrappen G, Feenstra L, Fryns JP.
On the association profound nerve deafness, semilobar holoprosencephaly, and
minor midline developmental anomalies. Genet Couns 1999;10(4):399-401 |
Abstract |
Synopsis |
| 126 |
Verloes Alain, Trinh Hermanns-Lê,
Sylviane Lesenfants, Jacques Lombet, Paul-Jacques Lamotte, Corine Crèvecoeur-Liégeois,
Bernard Duchesne, Gérald E. Piérard. Koraxitrachitic syndrome: A
syndromic form of self-healing collodion baby with residual dappled atrophy of
the derma. Am. J. Med. Genet. 86:454-458, 1999 |
Abstract |
Synopsis |
| 127 |
Vilain E, Le Merrer M, Lecointre C,
Desangles F, Kay MA, Maroteaux P, McCabe ER. IMAGe, a new clinical association
of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia
congenita, and genital anomalies. J Clin Endocrinol Metab 1999, 84(12):4335-40
|
Abstract |
Synopsis |
| 128 |
Yadav TP, Singh RP, Gautam RK, Multiple
lentigines: a case with new associations. Indian Pediatr 1999 Aug;36(8):827-9
|
Abstract |
Synopsis |
| 129 |
Yosipovitch G, Feinmesser M, Mutalik
S - Poliosis Associated With a Giant Congenital Nevus. Arch Dermatol 1999
Jul;135(7):859-61 (case report) |
Abstract |
Synopsis |
| 130 |
Yoskovitch A, Tewfik TL, Nguyen L, Oudjhane
K, Teebi AS. Choanal and ileal atresia: a new syndrome or association?Int
J Pediatr Otorhinolaryngol 1999 Aug 20;49(3):237-40 |
Abstract |
Synopsis |
| 131 |
Yuksel A, Seven M, Deviren A, Soylemez
MA, Hacihanefioglu S, Ulutin T, Cenani A. Two female siblings with a previously
unreported MCA/MR syndrome: pre- and postnatal growth retardation, iris colobomata,
spasticity, facial dysmorphism and dilated ventricles.Genet Couns 1999;10(3):265-9
|
Abstract |
Synopsis |
|
