Robinow syndrome in two siblings from consanguineous parents

Détails

ID Serval
serval:BIB_2961F0F622C1
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Robinow syndrome in two siblings from consanguineous parents
Périodique
European Journal of Pediatrics
Auteur(s)
Schorderet  D. F., Dahoun  S., Defrance  I., Nussle  D., Morris  M. A.
ISSN
0340-6199 (Print)
Statut éditorial
Publié
Date de publication
08/1992
Volume
151
Numéro
8
Pages
586-9
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Aug
Résumé
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).
Mots-clé
Abnormalities, Multiple/*genetics Child, Preschool Chromosome Aberrations/genetics Chromosome Disorders Dwarfism/*genetics Face/*abnormalities Female Humans Infant Karyotyping *Limb Deformities, Congenital Male Syndrome
Pubmed
Web of science
Création de la notice
28/01/2008 13:59
Dernière modification de la notice
20/08/2019 14:09
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