Eustis H S, Yaplee S M, Kogutt M, Ginsberg H G
Department of Ophthalmology, Oschner Clinic, New Orleans, La 70121.
J Pediatr Ophthalmol Strabismus. 1990 Sep-Oct;27(5):237-41. doi: 10.3928/0191-3913-19900901-05.
Chondrodysplasia punctata is a multisystem disorder, primarily involving the musculoskeletal system, skin, and eyes. Children with the rhizomelic form of this syndrome have characteristic facies with a saddle-nose deformity, hypertelorism, and frontal bossing. The musculoskeletal changes include proximal limb shortening, flexion contractures, congenital hip dislocations, and the characteristic radiographic finding of epiphyseal stippling of the axial skeleton and long bones. The most common ocular findings are cataracts and optic atrophy. We describe herein the first reported case of microspherophakia in association with the rhizomelic form of chondrodysplasia punctata.
点状软骨发育不良是一种多系统疾病，主要累及肌肉骨骼系统、皮肤和眼睛。患有这种综合征根茎型的儿童具有特征性面容，包括鞍鼻畸形、眼距增宽和额部隆起。肌肉骨骼方面的改变包括近端肢体缩短、屈曲挛缩、先天性髋关节脱位，以及轴骨和长骨干骺端点状钙化这一特征性影像学表现。最常见的眼部表现是白内障和视神经萎缩。我们在此描述首例报道的与点状软骨发育不良根茎型相关的小晶状体症病例。
