title: Conradi-Hünermann syndrome with ocular anomalies.
abstract: We report a Japanese girl with the Conradi-Hünermann form of chondrodysplasia punctata and anterior segment malformations characteristic of Axenfeld-Rieger syndrome. The patient also had cataracts and unilateral optic atrophy. A possible role for homeobox-containing genes in the etiology of this type of chondrodysplasia punctata is suggested as an explanation for the coincidence of these two syndromes.
authors.affiliation: Department of Ophthalmology, Nagasaki University School of Medicine, Sakamoto, Nagasaki, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tanaka
authors.forename: A
authors.initials: A
authors.lastname: Saitoh
authors.forename: H
authors.initials: H
authors.lastname: Taniguchi
authors.forename: K
authors.initials: K
authors.lastname: Oba
authors.forename: T
authors.initials: T
authors.lastname: Kitaoka
authors.forename: T
authors.initials: T
authors.lastname: Amemiya
mesh_terms: D000869:Anterior Eye Segment / Q000002:abnormalities*; D002386:Cataract / Q000150:complications / Q000151:congenital; D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000151:congenital / Q000473:pathology; D005128:Eye Diseases / Q000150:complications* / Q000151:congenital; D005260:Female; D006801:Humans; D007223:Infant; D009896:Optic Atrophy / Q000150:complications / Q000151:congenital; D013577:Syndrome