title: Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: autosomal recessive entity?
abstract: 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.
authors.affiliation: Department of Pediatrics, Pamukkale University, Faculty of Medicine, Denizli, Turkey.
authors.forename: I
authors.initials: I
authors.lastname: Kilic
authors.forename: B A
authors.initials: BA
authors.lastname: Kilic
authors.forename: H
authors.initials: H
authors.lastname: Ergin
authors.forename: M G
authors.initials: MG
authors.lastname: Aygün
authors.forename: M A
authors.initials: MA
authors.lastname: Aksit
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D003241:Consanguinity; D003286:Contracture / Q000151:congenital* / Q000235:genetics; D005260:Female; D005355:Fibrosis; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009216:Myopia / Q000151:congenital* / Q000235:genetics; D009801:Oculomotor Muscles / Q000002:abnormalities*; D013577:Syndrome