Robinow syndrome in two siblings from consanguineous parents

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Serval ID
serval:BIB_2961F0F622C1
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
Robinow syndrome in two siblings from consanguineous parents
Journal
European Journal of Pediatrics
Author(s)
Schorderet  D. F., Dahoun  S., Defrance  I., Nussle  D., Morris  M. A.
ISSN
0340-6199 (Print)
Publication state
Published
Issued date
08/1992
Volume
151
Number
8
Pages
586-9
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Aug
Abstract
A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).
Keywords
Abnormalities, Multiple/*genetics Child, Preschool Chromosome Aberrations/genetics Chromosome Disorders Dwarfism/*genetics Face/*abnormalities Female Humans Infant Karyotyping *Limb Deformities, Congenital Male Syndrome
OAI-PMH
oai:serval.unil.ch:BIB_2961F0F622C1
DOI
10.1007/BF01957728
Pubmed
1505578
Web of science
A1992JE45200013
Create date
28/01/2008 13:59
Last modification date
20/08/2019 14:09
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