Müllerian agenesis, hypoplasia of distal extremities, unusual dermatoglyphics, and pigmentation.
The case of a 17-year-old girl with müllerian agenesis, hypoplasia of the distal extremities, unusual dermatoglyphic findings, and mottled skin pigmentation is reported. The family history indicates that the maternal grandmother's sisters were similarly affected with müllerian agenesis, suggesting a dominant gene with variable penetrance in this family.
D000293:Adolescent; D003878:Dermatoglyphics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D009095:Mullerian Ducts / Q000473:pathology*; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics*; D013576:Syndactyly / Q000150:complications / Q000235:genetics*; D014034:Toes / Q000002:abnormalities*