Genitopatellar syndrome: delineating the anomalies of female genitalia
Edward J Lammer1, Liane Abrams
1Division of Medical Genetics, Children's Hospital and Research Center, Oakland, California 94609, USA. elammer@mail.cho.org
American Journal of Medical Genetics
|September 5, 2002
Abstract:
We report the second female with genitopatellar syndrome, a recently identified arthrogryposis syndrome. The salient features include severe mental retardation and microcephaly with absence of the corpus callosum, absent/hypoplastic patellae, genital anomalies, and hydronephrosis.
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