Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face.
Am J Med Genet
; 77(1): 16-8, 1998 Apr 28.
Article
em En
| MEDLINE
| ID: mdl-9557887
ABSTRACT
We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42467-469] and Gupta et al. [1995, J Med Genet 32809-812], thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Blefarofimose
/
Contratura
/
Face
/
Dedos
/
Síndrome de Marfan
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Índia