Freire-Maia N, Cat I, Raponegaidzinski R
Hum Hered. 1977;27(2):127-33. doi: 10.1159/000152861.
A girl is reported with a hitherto apparently undescribed ectodermal dysplasia syndrome. The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe hyperopia, EEG abnormalities, and retarded bone age. The patient also presents mongoloid palpebral slanting, narrow palpebral fissures, bilateral esotropia, photophobia and dermatoglyphics with extensive ridge dissociation. The etiology is unknown but presumed to be genetic, possibly due to the homozygous state of an autosomal recessive mutation.
据报道，一名女孩患有一种迄今明显未被描述过的外胚层发育不良综合征。主要表现包括：脱发、甲发育不良、少汗、感音神经性耳聋、皮肤呈棕褐色且角化过度（手掌和足底也受累）、面容异常（耳廓和鼻子有轻微异常）、漏斗胸、重度远视、脑电图异常以及骨龄延迟。该患者还存在内眦赘皮、睑裂狭窄、双侧内斜视、畏光以及指纹广泛分离。病因不明，但推测为遗传性，可能是由于常染色体隐性突变的纯合状态所致。
