Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder?
Identifieur interne : 000624 ( France/Analysis ); précédent : 000623; suivant : 000625Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder?
Auteurs : André Mégarbané [Liban, France] ; Joseph Haddad [Liban] ; Stanislass Lyonnet [France] ; Jill Clayton-Smith [Royaume-Uni]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-01-15.
Abstract
We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature. © 2002 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.10705
Affiliations:
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ISTEX:FD349941992F125A06AADF6CB8423638CD6B0077Le document en format XML
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