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Malformations among the X‐linked intellectual disability syndromes
Author(s) -
Stevenson Roger E.,
Schwartz Charles E.,
Rogers R. Curtis
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36179
Subject(s) - hydranencephaly , lissencephaly , hypospadias , medicine , genitourinary system , intellectual disability , renal agenesis , congenital malformations , pediatrics , intervention (counseling) , dysplasia , agenesis of the corpus callosum , surgery , psychiatry , pathology , pregnancy , fetus , genetics , corpus callosum , biology , gene , kidney , biochemistry , chemistry
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. © 2013 Wiley Periodicals, Inc.