A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures.
Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.
D000015:Abnormalities, Multiple; D001827:Body Height; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006345:Heart Septal Defects, Ventricular / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities