Genitopatellar syndrome: delineating the anomalies of female genitalia.
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.
Lammer
Edward J
EJ
Division of Medical Genetics, Children's Hospital and Research Center, Oakland, California 94609, USA. elammer@mail.cho.org
Abrams
Liane
L
D061085:Agenesis of Corpus Callosum; D001176:Arthrogryposis / Q000209:etiology / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005831:Genital Diseases, Female / Q000235:genetics*; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D010329:Patella / Q000002:abnormalities*