Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?
Clin Dysmorphol
; 10(1): 69-70, 2001 Jan.
Article
em En
| MEDLINE
| ID: mdl-11152154
ABSTRACT
We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Genes Recessivos
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article