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Robinow syndrome in two siblings from consanguineous parents
D F Schorderet1, S Dahoun, I Defrance
1Department of Microbiology and Genetics, University of Geneva, Switzerland.
European Journal of Pediatrics
|August 1, 1992
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).