New Syndromes
1998 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 1998 |
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| 1 |
al Gazali LI - Mental retardation,
iris coloboma, optic atrophy and distinctive facial appearance in two sibs.Clin
Dysmorphol 1998 Jul;7(3):201-3 |
Abstract |
Synopsis |
| 2 |
al-Gazali LI, Bakalinova D -Autosomal
recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive
facial appearance.Clin Dysmorphol 1998 Jul;7(3):177-84 |
Abstract |
Synopsis |
| 3 |
Annéren G, Meurling S, Lilja H,
Wallander J, von Dobeln U. Lethal autosomal recessive syndrome with intrauterine
growth retardation, intra- and extrahepatic biliary atresia, and esophageal and
duodenal atresia. Am J Med Genet 1998 Jul 7;78(3):306-7 (letter) |
Abstract |
Synopsis |
| 4 |
Balci S, Kayikcioglu A, Dagli AS.
Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type
hearing loss: a new syndrome.Clin Genet 1998 Nov;54(5):440-442 (letter) |
Abstract |
Synopsis |
| 5 |
Ballo R; Beighton PH; Ramesar RS.
Stickler-like syndrome due to a dominant negative mutation in the
COL2A1 gene. Am J Med Genet, 80(1):6-11 1998 Oct 30 |
Abstract |
Synopsis |
| 6 |
Caridi G, Murer L, Bellantuono
R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM. Renal-retinal syndromes: association
of retinal anomalies and recessive nephronophthisis in patients with homozygous
deletion of the NPH1 locus. Am J Kidney Dis 1998 Dec;32(6):1059-62 |
Abstract |
Synopsis |
| 7 |
Cobeta-Garcia JC, Gascon A, Iglesias
E, Estopinan V. Chondrocalcinosis and Gitelman's syndrome. A new association?
Ann Rheum Dis 1998 Dec;57(12):748-9 (letter) |
Abstract |
Synopsis |
| 8 |
Cohen MM Jr, Neri G. New overgrowth
syndrome and FGFR3 dosage effect. J Med Genet 1998 Apr;35(4):348-9 (letter) |
Abstract |
Synopsis |
| 9 |
Cortes D, Thorup JM, Beck BL, Visfeldt
J. Cryptorchidism as a caudal developmental field defect. A new description
of cryptorchidism associated with malformations and dysplasias of the kidneys,
the ureters and the spine from T10 to S5. APMIS 1998 Oct;106(10):953-8 |
Abstract |
Synopsis |
| 10 |
Cunningham Emmett T. Jr; Dean Eliott;
Neil R Miller; Irene H Maumenee; W Richard Green. Familial Axenfeld-Rieger
anomaly, atrial septal defect, and sensorineural hearing loss: A possible new
genetic syndrome. Arch Ophthalmol. 1998;116:78-82 |
Abstract |
Synopsis |
| 11 |
Day-Salvatore D, McLean D. Blepharophimosis,
hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused
metacarpals, and "prehensile" halluces: a new syndrome? Am J Med Genet 1998 Dec
4;80(4):309-13 |
Abstract |
Synopsis |
| 12 |
Duval A, Boute O, Devisme L, Valat
AS, Manouvrier S. New autosomal recessive syndrome of severe microcephaly
and skeletal anomalies including posterior rib-gap defects. Am J Med Genet 1998
Dec 4;80(4):429-34 |
Abstract |
Synopsis |
| 13 |
Elia M, Musumeci SA, Ferri R, Scuderi
C, Del Gracco S, Bottitta M, Michelucci R, Tassinari CA. Familial cortical
tremor, epilepsy, and mental retardation: a distinct clinical entity? Arch Neurol
1998 Dec;55(12):1569-73 |
Abstract |
Synopsis |
| 14 |
Fryns JP, Lagae L, Rizzo WB. Pre-
and postnatal growth retardation, scaling skin, moderate mental retardation and
quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly.
A distinct MCA/MR syndrome? Clin Dysmorphol 1998 Oct;7(4):275-7 |
Abstract |
Synopsis |
| 15 |
Guerrini R, Dobyns WB. Bilateral
periventricular nodular heterotopia with mental retardation and frontonasal malformation.
Neurology 1998 Aug;51(2):499-503 |
Abstract |
Synopsis |
| 16 |
Hisama FM, Reyes-Mugica M, Wargowski
DS, Thompson KJ, Mahoney MJ. Renal tubular dysgenesis, absent nipples, and
multiple malformations in three brothers: a new, lethal syndrome. Am J Med Genet
1998 Dec 4;80(4):335-42 |
Abstract |
Synopsis |
| 17 |
Hopkin RJ, Cotton R, Langer LO, Saal
HM. Progressive laryngotracheal stenosis with short stature and arthropathy.Am.
J. Med. Genet. 80:241-246, 1998. |
Abstract |
Synopsis |
| 18 |
Inoue Y, Ono T, Kayashima K, Johno M.
Hereditary perioral pigmented follicular atrophoderma associated with milia
and epidermoid cysts. Br J Dermatol 1998 Oct;139(4):713-8 |
Abstract |
Synopsis |
| 19 |
Jampol M, Repetto G, Keith DA, Curtin
H, Remensynder J, Holmes LB. New syndrome? Prominent, constricted ears with
malformed condyle of the mandible. Am J Med Genet 1998 Feb 17;75(5):449-52 |
Abstract |
Synopsis |
| 20 |
Johnson D, Horsley SW, Moloney DM,
Oldridge M, Twigg SR, Walsh S, Barrow M, Njolstad PR, Kunz J, Ashworth GJ, Wall
SA, Kearney L, Wilkie AO. A comprehensive screen for TWIST mutations in patients
with craniosynostosis identifies a new microdeletion syndrome of chromosome band
7p21.1. Am J Hum Genet 1998 Nov;63(5):1282-93 |
Abstract |
Synopsis |
| 21 |
Kamuro K; Yoshimi S; Morikawa T.
A new epileptic syndrome: ring chromosome 20-interhemispheric peak delay of spikes.
No To Hattatsu, 30(5):431-2 1998 Sep (Article in Japanese) |
Abstract |
Synopsis |
| 22 |
Kaufman LM. A syndrome of retinitis
pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature,
mental retardation, cranial dysmorphism, and abnormal electroencephalogram. Ophthalmic
Genet 1998 Jun;19(2):69-79 |
Abstract |
Synopsis |
| 23 |
Kerner B, Rimoin DL, Lachman RS. Mesomelic
shortening of the upper extremities with spur formation and cutaneous dimpling.
Pediatr Radiol 1998 Oct;28(10):794-7 |
Abstract |
Synopsis |
| 24 |
Le Merrer M, Maroteaux P. Metaphyseal
anadysplasia type II: a new regressive metaphyseal dysplasia. Pediatr Radiol 1998
Oct;28(10):771-5 |
Abstract |
Synopsis |
| 25 |
Lees MM, Hodgkins P, Reardon W, Taylor
D, Stanhope R, Jones B, Hayward R, Hockley AD, Baraitser M, Winter RM. Frontonasal
dysplasia with optic disc anomalies and other midline craniofacial defects: a
report of six cases. Clin Dysmorphol 1998 Jul;7(3):157-62 |
Abstract |
Synopsis |
| 26 |
Lynch SA, Wright C, Robson SC. Bilateral
renal agenesis, cardiac hypertrophy and pancytopenia, a new syndrome? Clin Dysmorphol
1998 Oct;7(4):285-8 |
Abstract |
Synopsis |
| 27 |
Megarbane, A; Kharrat, K; Kreichati,
G. Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract,
microcephaly, and mental retardation: a new MCA/MR syndrome.JOURNAL OF MEDICAL
GENETICS, 35: (9) 755-758 SEP 1998 |
Abstract |
Synopsis |
| 28 |
MEILOF JF, V I H KWA, M.
VERMEULEN, TIESSENS G. Isolated ataxia and autonomic dysfunction: a new variant
of Guillain-Barré syndrome? J Neurol Neurosurg Psychiatry 1998;64:689-690
(Letter) |
Abstract |
Synopsis |
| 29 |
Mortier GR, Messiaen LM, Espeel M,
Smets KJ, Vanzieleghem BD, Roels F, De Paepe AM. Chondrodysplasia punctata
with multiple congenital anomalies: a new syndrome? Pediatr Radiol 1998 Oct;28(10):790-3
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Abstract |
Synopsis |
| 30 |
Mullins DA; Abel MF; Blanco JS; Fryburg
JS. Familial synspondylism: progressive scoliosis and multiple hernias in
a kinship. J Pediatr Orthop, 18(5):606-10 1998 |
Abstract |
Synopsis |
| 31 |
Nishimura G, Nakayama M, Fuke Y, Suehara
N. A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis,
and congenital hepatic fibrosis: two siblings born to consanguineous parents.
Pediatr Radiol 1998 Jan;28(1):43-7 |
Abstract |
Synopsis |
| 32 |
Nishimura G, Fukushima Y, Aihara T,
Ohashi H, Nishimoto H, Nishimura J. Previously undescribed spondyloepiphyseal
dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental
retardation: report of four sibs. Am J Med Genet 1998 Apr 28;77(1):1-7 |
Abstract |
Synopsis |
| 33 |
Nishimura G, Kurosawa K, Kobayashi
H, Kawame H. Osteogenesis imperfecta-like syndrome with severe mental retardation
and extrapyramidal tract signs. Pediatr Radiol 1998 Nov;28(11):856-8 |
Abstract |
Synopsis |
| 34 |
Nishimura G, Haga Y, Aoki K, Hasegawa
T. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?
Pediatr Radiol 1998 Dec 1;28(12):975-977 |
Abstract |
Synopsis |
| 35 |
Nishimura G, Tomonobu Hasegawa, Kyoko
Sugii, Kaiichiro Tsuyama, Nobutake Matsuo. Joint laxity, vitreoretinal degeneration,
facial abnormalities, and generalized skeletal alterations: A new syndrome? J
Hum Genet., 43, 3 (1998) pp 191-194 |
Abstract |
Synopsis |
| 36 |
Nishimura G, Toshiro Nagai. A case
of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized
skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: A
new syndrome? J Hum Genet, 43, 1 (1998) pp 65-68 |
Abstract |
Synopsis |
| 37 |
Njolstad PR, Reigstad H, Westby J, Espeland
A. Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia.
Eur J Pediatr 1998 Jun;157(6):498-501 |
Abstract |
Synopsis |
| 38 |
Nowaczyk MJ, Hughes HE, Costa T, Clarke
JT. Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy,
and generalized absence of subcutaneous tissues: a new entity? Clin Dysmorphol
1998 Oct;7(4):263-8 |
Abstract |
Synopsis |
| 39 |
Onyeije CI, Sherer DM, Handwerker S,
Shah L. Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report
of a previously undocumented form of VACTERL-H association. Am J Perinatol 1998
Mar;15(3):193-7 |
Abstract |
Synopsis |
| 40 |
O'Sullivan MJ, McAllister WH, Ball
RH, Teitelbaum SL, Swanson PE, Dehner LP. Morphologic observations in a case
of lethal variant (type I) metatropic dysplasia with atypical features: morphology
of lethal metatropic dysplasia. Pediatr Dev Pathol 1998 Sep-Oct;1(5):405-12 |
Abstract |
Synopsis |
| 41 |
Peters HL, Bankier A. Lipomatous
myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new
form of syndromal deafness? J Med Genet 1998 Nov;35(11):948-50 |
Abstract |
Synopsis |
| 42 |
Piciche M, Scanderbeg AC, Chiariello
L, Levato ME, Tomai F, Pellegrino A. Atrial septal defect associated with
Albright's hereditary osteodystrophy and other anomalies: a clinical case. G Ital
Cardiol 1998 Sep;28(9):1012-6 |
Abstract |
Synopsis |
| 43 |
Pierpont ME, Stewart FJ, Gorlin RJ.
Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR
syndrome. Am J Med Genet 1998 Jan 6;75(1):18-21 |
Abstract |
Synopsis |
| 44 |
Scheffer IE, Phillips HA, O'Brien CE,
Saling MM, Wrennall JA, Wallace RH, Mulley JC, Berkovic SF. Familial partial
epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of
linkage to chromosome 2. Ann Neurol 1998 Dec;44(6):890-9 |
Abstract |
Synopsis |
| 45 |
Simon David K, Michael L Rodriguez,
Matthew P Frosch, Elizabeth J Quackenbush, Steven K Feske, Marvin R Natowicz.
A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid
storage: a new lysosomal disease? J Neurol Neurosurg Psychiatry 1998;65:251-254
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Abstract |
Synopsis |
| 46 |
Squires LA, Dieffenbach AZ, Betz BW.
Three malformation complexes related to neural crest development. Brain Dev 1998
Apr;20(3):183-5 |
Abstract |
Synopsis |
| 47 |
Temtamy SA, Meguid NA, Ismail SI, Ramzy
MI. A new multiple congenital anomaly, mental retardation syndrome with preaxial
brachydactyly, hyperphalangism, deafness and orodental anomalies. Clin Dysmorphol
1998 Oct;7(4):249-55 |
Abstract |
Synopsis |
| 48 |
Tsukahara M, Sugio Y. New dominant
syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.
J Hum Genet 1998;43(4):224-7 |
Abstract |
Synopsis |
| 49 |
van Asperen CJ, Overweg-Plandsoen WC,
Cnossen MH, van Tijn DA, Hennekam RC. Familial neurofibromatosis type 1 associated
with an overgrowth syndrome resembling Weaver syndrome. J Med Genet 1998 Apr;35(4):323-7
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Abstract |
Synopsis |
| 50 |
Van Nesselrooij BP, Spliet W, Beemer
FA. Unusual association of congenital malformations: craniosynostosis, heart
defect, abnormal intestinal innervation and urogenital abnormalities. Clin Dysmorphol
1998 Jan;7(1):51-3 |
Abstract |
Synopsis |
| 51 |
Watanabe T, Mochizuki H, Kohda N, Minamitani
K, Minagawa M, Yasuda T, Niimi H. Autosomal dominant familial hypoparathyroidism
and sensorineural deafness without renal dysplasia. Autosomal dominant familial
hypoparathyroidism and sensorineural deafness without renal dysplasia. Eur.J.Endocrinology,1998,139:631-634
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Abstract |
Synopsis |
| 52 |
Weitzman JJ, Brennan LP. Bronchogastric
fistula, pulmonary sequestration, malrotation of the intestine, and Meckel's diverticulum--a
new association. J Pediatr Surg 1998 Nov;33(11):1655-7 |
Abstract |
Synopsis |
| 53 |
Yano S, Oda K, Watanabe Y, Watanabe
S, Matsuishi T, Kojima K, Abe T, Kato H. Two sib cases of Leber congenital
amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies. Am
J Med Genet 1998 Aug 6;78(5):429-32 |
Abstract |
Synopsis |
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