Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.
A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient.
Pavone
L
L
Clinica Pediatrica Università di Catania, Italy.
Rizzo
R
R
Ruggieri
M
M
Sorge
G
G
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis*; D000293:Adolescent; D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006983:Hypertrichosis; D008607:Intellectual Disability; D008297:Male; D009264:Nails, Malformed; D009765:Obesity; D013577:Syndrome; D014034:Toes / Q000002:abnormalities