Butler M G, Eisen J D, Henry J
J Pediatr Ophthalmol Strabismus. 1978 Jul-Aug;15(4):233-5. doi: 10.3928/0191-3913-19780701-11.
The cryptophthalmos syndrome generally consists of cryptophthalmia, dyscephaly (cleft lip and palate, nasal and ear defects, meningoencephaloceles, etc.), syndactyly, and urogenital malformations. This disorder is rare. Approximately 55 cases have been reported, with only a few described in the American literature. A three-year-old boy with this rare syndrome is described. Major clinical findings include: asymmetric bilateral cryptophthalmos, unilateral orbital cyst of the nasofrontal area, bilateral anophthalmos, right choanal atresia, right microtia, right auditory canal atresia, hypodontia, ankyloglossia, cartilaginous synchondroses of the cervical vertebrae, and bilateral acetabular dysplasia. Striking features of this case, in addition to the above, were profound mental and motor retardation. Syndactyly and renal anomalies were not observed.
隐眼综合征通常包括隐眼、头面部发育异常（唇腭裂、鼻和耳缺陷、脑脊膜膨出等）、并指（趾）畸形以及泌尿生殖系统畸形。这种病症很罕见。大约已报道55例，美国文献中仅有少数病例描述。本文描述了一名患有这种罕见综合征的三岁男孩。主要临床发现包括：不对称性双侧隐眼、鼻额区域单侧眼眶囊肿、双侧无眼、右侧后鼻孔闭锁、右侧小耳畸形、右侧耳道闭锁、牙发育不全、舌系带过短、颈椎软骨联合以及双侧髋臼发育不良。除上述情况外，该病例的显著特征是严重的智力和运动发育迟缓。未观察到并指（趾）畸形和肾脏异常。
