Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
Am J Med Genet
; 70(1): 67-73, 1997 May 02.
Article
em En
| MEDLINE
| ID: mdl-9129744
ABSTRACT
We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
/
Anormalidades Múltiplas
/
Deficiências do Desenvolvimento
/
Tecido Conjuntivo
/
Anormalidades Craniofaciais
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Estados Unidos