Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.
Am J Dis Child
; 135(10): 930-3, 1981 Oct.
Article
in En
| MEDLINE
| ID: mdl-7293993
ABSTRACT
We have observed an apparently new, heritable syndrome consisting of severe microcephaly, microphthalmia, falciform retinal folds, and blindness. Two brothers were affected with these problems. The mother, while she has no ocular malformations, has severe microcephaly and mild mental retardation. The only other offspring of the parents, a boy, is normal. Laboratory evaluation of the affected sibs was uninformative. An environmental cause of this condition has been sought, but none has been identified. Possible modes of inheritance include autosomal dominant inheritance with variable expressivity, X-linked recessive inheritance with partial expression in the mother, or autosomal recessive inheritance that is etiologically unrelated to the mother's microcephaly.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retina
/
Abnormalities, Multiple
/
Microphthalmos
/
Blindness
/
Microcephaly
Type of study:
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Am J Dis Child
Year:
1981
Document type:
Article