[The cerebro-oculo-facio-skeletal syndrome].
A further case of the cerebro-oculo-facio skeletal syndrome is described. The child, the first of healthy parents with no significant family history, died on the 4th day of life because of renal failure and respiratory difficulties. The dysmorphic features were microcephaly, microphthalmia, high nasal bridge, lax skin with a prominent skin fold extending below the eyes, large upper lip, fixed flexion deformities of the limbs, short fingers with campodactyly, talus valgus and longitudinal plantar groove. At autopsy there was renal agenesis, a hypoplastic bladder, bilateral cataract with atrophy of the iris and retina. The relationship between Potter's syndrome and other oculo renal syndromes are discussed. The diagnosis is important because this syndrome is inherited as an autosomal recessive.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities*; D002386:Cataract / Q000175:diagnosis; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D008850:Microphthalmos / Q000175:diagnosis; D013577:Syndrome; D013628:Talus / Q000002:abnormalities
Le syndrome cerebro-oculo-facio-squelettique.