Robinow syndrome in two siblings from consanguineous parents
- 1 August 1992
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 151 (8) , 586-589
- https://doi.org/10.1007/bf01957728
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
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