Giannotti A, Digilio M C, Albertini G, Mingarelli R, Dallapiccola B
Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
Clin Dysmorphol. 1995 Oct;4(4):334-7. doi: 10.1097/00019605-199510000-00009.
Trichodental syndrome is a rare autosomal dominant ectodermal dysplasia. Hair and dental anomalies have been found in different combinations in most affected persons in three families. The features of trichodental syndrome were observed in a young female in which sparse, fine, lustreless and slow growing hairs were associated with bigeminismus of inferior lateral incisors. Ultrastructural hair analysis showed consistent variation in contour of the shaft and reduced to absent cuticular scale. Distinguishing features in this patient were microcephaly and mild mental retardation.
毛发-牙综合征是一种罕见的常染色体显性外胚层发育不良疾病。在三个家族的大多数患者中，发现毛发和牙齿异常存在不同的组合形式。在一名年轻女性身上观察到了毛发-牙综合征的特征，其表现为头发稀疏、纤细、无光泽且生长缓慢，同时伴有下颌侧切牙双生畸形。毛发超微结构分析显示，毛干轮廓持续变异，角质鳞片减少或缺失。该患者的显著特征为小头畸形和轻度智力发育迟缓。
