RSH (Smith-Lemli-Opitz) syndrome: "Severe" phenotype with ectrodactyly

We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH (“Smith‐Lemli‐Opitz”) syndrome. An unusual finding was ectrodactyly of both hands. Am. J. Med. G...

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Bibliographic Details
Published in:American journal of medical genetics 1998-01, Vol.75 (3), p.283-287
Main Authors: de Jong, Greetje, Kirby, Pat A., Muller, Linnie M.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Brain - pathology
Chromosomes, Human, Pair 7 - genetics
Complex syndromes
ectrodactyly
Fatal Outcome
Female
Foot Deformities, Congenital - diagnostic imaging
Foot Deformities, Congenital - genetics
Foot Deformities, Congenital - pathology
Hand Deformities, Congenital - diagnostic imaging
Hand Deformities, Congenital - genetics
Hand Deformities, Congenital - pathology
Heart Defects, Congenital - genetics
Humans
Infant, Newborn
Medical genetics
Medical sciences
Phenotype
Radiography
Smith-Lemli-Opitz Syndrome - diagnostic imaging
Smith-Lemli-Opitz Syndrome - genetics
Smith-Lemli-Opitz Syndrome - pathology
Smith-Lemli-Opitz syndrome type II
ultrasonography
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Description
Summary:We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH (“Smith‐Lemli‐Opitz”) syndrome. An unusual finding was ectrodactyly of both hands. Am. J. Med. Genet. 75:283–287, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980123)75:3<283::AID-AJMG11>3.0.CO;2-L