Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?

Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13‐year‐old Turkish girl and h...

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Bibliographic Details
Published in:American journal of medical genetics 1998-04, Vol.77 (1), p.28-30
Main Authors: Kilic, İlknur, Kilic, B. Alper, Ergin, Hacer, Aygün, Meral Günay, Aksit, M. Arif
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Biological and medical sciences
camptodactyly
Child
Complex syndromes
Consanguinity
Contracture - congenital
Contracture - genetics
Female
Fibrosis
fibrosis of the medial rectus
Fingers - abnormalities
Genes, Recessive
Humans
Male
Medical genetics
Medical sciences
myopia
Myopia - congenital
Myopia - genetics
Oculomotor Muscles - abnormalities
ptosis
Syndrome
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Summary:Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13‐year‐old Turkish girl and her 11‐year‐old brother. The girl also had ptosis. Am. J. Med. Genet. 77:28–30, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980428)77:1<28::AID-AJMG7>3.0.CO;2-H