Conradi-Hünermann syndrome with ocular anomalies.
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.
Tanaka
Y
Y
Department of Ophthalmology, Nagasaki University School of Medicine, Sakamoto, Nagasaki, Japan.
Saitoh
A
A
Taniguchi
H
H
Oba
K
K
Kitaoka
T
T
Amemiya
T
T
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