Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.
Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here.
Cavalcanti
D P
DP
Departamento de Genética Médica, FCM, UNICAMP, SP, Brazil.
D000015:Abnormalities, Multiple; D003409:Congenital Hypothyroidism; D005147:Facial Bones / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome