1.
Genet Couns
; 24(2): 239-42, 2013.
Article
in English
| MEDLINE
| ID: mdl-24032296
2.
Bol Med Hosp Infant Mex
; 46(5): 349-51, 1989 May.
Article
in Spanish
| MEDLINE
| ID: mdl-2757778
ABSTRACT
A 12 month-old female is described, with clinical features of AEC syndrome. This case is a novo mutation. Clinical diagnosis at an early age is emphasised to get a better management and genetic counseling. Also we review the literature.
Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Ectodermal Dysplasia/genetics , Eyelids/abnormalities , Female , Humans , Infant, Newborn , Phenotype , Syndrome
3.
Bol Med Hosp Infant Mex
; 46(2): 130-2, 1989 Feb.
Article
in Spanish
| MEDLINE
| ID: mdl-2713058
ABSTRACT
Two unrelated male children, aged 15 and 2 months, with congenital contractural arachnodactyly (CCA) are described. CCA is an autosomal dominant disorder of benign evolution, affects the connective tissue and its morphologic phenotype is similar to Marfan syndrome. Differential diagnosis and management are discussed.