Cardiofaciocutaneous syndrome.
A boy aged 6 years 10 months with dysmorphic features of the cardiofaciocutaneous syndrome is reported. This patient had early total alopecia, persistent hypotrichosis and an inflammatory hyperkeratotic dermatosis with psoriasiform features occurring predominantly on the scalp, extensor surfaces of limbs and trunk. Bilateral progressive femoral valgus deformity culminated in unilateral hip subluxation. Previously undescribed neuro-ophthalmologic findings are reported.
Ades
L C
LC
Medical Genetics Unit, Children's Hospital, Camperdown, NSW, Australia.
Sillence
D O
DO
Rogers
M
M
D000015:Abnormalities, Multiple; D002648:Child; D005124:Eye Abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D012871:Skin Diseases; D013577:Syndrome