[Mesodermal dysgenesis]. / K problematice mezodermální dysgeneze.
Cesk Oftalmol
; 46(1): 69-74, 1990 Feb.
Article
in Cs
| MEDLINE
| ID: mdl-2334977
ABSTRACT
The authors present an account on a 12-year-old girl with ectomesodermal dysgenesis of the Rieger type syndrome. The disease was manifested at the age of nine months by transient diffuse corneal opacity, while the intraocular pressure was normal. In addition to typical corneal changes and changes in the angle of the chamber other associated somatic symptoms included megalocornea, high myoptic astigmatism, cleft soft palate, hypoplasia of the upper jaw, partial anodontia, marked thoracic kyphosis, scoliosis, generalized hypermobility and taxicity of the joints and torticollis. Examination revealed an uncommon pathological karyotype 46, XX, t/1,4 (p36, q23). Cytogenetic examination of the parents and siblings of the proband did not disclose any numerical or structural aberrations. The authors reflect on possible causes of the development of the disease and on the differential diagnosis.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Anterior Chamber
Limits:
Child
/
Female
/
Humans
Language:
Cs
Journal:
Cesk Oftalmol
Year:
1990
Document type:
Article