Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.
J Pediatr
; 91(6): 929-23, 1977 Dec.
Article
em En
| MEDLINE
| ID: mdl-925822
ABSTRACT
A family is described in which 15 persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature. Although craniosynostosis is either lacking or relatively mild in the members of this family, their features are otherwise strikingly similar to those of patients with the Saethre-Chotzen syndrome. We believe the findings in this family indicate that the Saethre-Chotzen syndrome comprises a broad pattern of carniofacial and other skeletal malformations in which craniosynostosis may sometimes occur.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acrocefalossindactilia
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
/
Newborn
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1977
Tipo de documento:
Article