Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient

D P Cavalcanti

doi:10.1136/jmg.26.12.785

Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient

J Med Genet. 1989 Dec;26(12):785-6. doi: 10.1136/jmg.26.12.785.

Author

D P Cavalcanti¹

Affiliation

¹ Departamento de Genética Médica, FCM, UNICAMP, SP, Brazil.

Abstract

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.

MeSH terms

Abnormalities, Multiple*
Congenital Hypothyroidism*
Facial Bones / abnormalities*
Fingers / abnormalities*
Humans
Infant
Infant, Newborn
Intellectual Disability*
Male
Skull / abnormalities*
Syndrome