Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Med Genet A. 2013 Nov;161A(11):2741-9. doi: 10.1002/ajmg.a.36179. Epub 2013 Sep 24.

Malformations among the X-linked intellectual disability syndromes.

Author information

1
Greenwood Genetic Center, Greenwood, South Carolina.

Abstract

Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected.

KEYWORDS:

X chromosome; X-linked intellectual disability; birth defects; malformations

PMID:
24166814
PMCID:
PMC3813298
DOI:
10.1002/ajmg.a.36179
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley Icon for PubMed Central
    Loading ...
    Support Center