ISSN:
1432-1076
Keywords:
Pena-Shokeir I syndrome
;
Facial anomalies
;
Ankylosis
;
Pulmonary hypoplasia
;
Genetics
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Two siblings whose clinical and pathologic features were consistent with the “Syndrome of camptodactyly, multiple ankyloses and pulmonary hypoplasia” originally described by Pena and Shokeir were examined at autopsy. Additional features were intrauterine growth retardation, immaturity of the central nervous system (CNS) and atrophy of skeletal muscles. Our data suggest that CNS damage may cause the complicated phenotypic abnormalities of the syndrome.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00716474
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