CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS OF THE EYE IN 2 SIBS BORN TO CONSANGUINEOUS PARENTS - AUTOSOMAL RECESSIVE ENTITY

Authors
KILIC I KILIC BA ERGIN H AYGUN MG AKSIT MA
Citation
I. Kilic et al., CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS OF THE EYE IN 2 SIBS BORN TO CONSANGUINEOUS PARENTS - AUTOSOMAL RECESSIVE ENTITY, American journal of medical genetics, 77(1), 1998, pp. 28-30
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
77
Issue
1
Year of publication
1998
Pages
28 - 30
Database
ISI
SICI code
0148-7299(1998)77:1<28:CMAFOT>2.0.ZU;2-R
Abstract
Unaffected but consanguineous parents suggest autosomal recessive inhe ritance of a previously apparently undescribed syndrome of camptodacty ly, fibrosis of the medial rectus muscle of the eye, severe myopia, fa cial anomalies, joint contractures, and mild scoliosis in a 18-year-ol d Turkish girl and her 11-year-old brother, The girl also had ptosis. (C) 1998 Wiley-Liss, Inc.