Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation

J Med Genet. 1987 Nov;24(11):715-6. doi: 10.1136/jmg.24.11.715.

Authors

Affiliation

¹ Department of Child Health, Leicester Royal Infirmary.

PMID: 3430551
PMCID: PMC1050356
DOI: 10.1136/jmg.24.11.715

Abstract

We present a female infant with (1) abnormal facies: microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia; (2) congenital heart abnormalities: large atrial and ventricular septal defects; (3) congenital hypothyroidism; (4) severe global retardation.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Face / abnormalities*
Heart Defects, Congenital / diagnosis*
Humans
Hypothyroidism / diagnosis*
Infant
Intellectual Disability / diagnosis*
Male
Syndrome