Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1987 Nov;24(11):715-6.
doi: 10.1136/jmg.24.11.715.

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

I D Young  1 , K Simpson
Affiliations
Case Reports

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

I D Young et al. J Med Genet. 1987 Nov.

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.

PubMed Disclaimer

References

    1. Arch Dis Child. 1986 Jun;61(6):608-9 - PubMed
    1. J Med Genet. 1984 Apr;21(2):121-3 - PubMed

Publication types