Naselli A, Vignolo M, Di Battista E, Papale V, Aicardi G, Becchetti S, Tomà P
Department of Paediatrics, University School of Medicine, G. Gaslini Children's Hospital, Genoa, Italy.
Pediatr Radiol. 1998 Nov;28(11):851-5. doi: 10.1007/s002470050481.
A pair of monozygotic twin girls with trichorhinophalangeal syndrome type I (TRPS I), followed from 8.3 to 16.1 years of age, is described. Both showed typical dysmorphic features and severe short stature, but only one had Perthes-like changes in the right capital femoral epiphysis. The radiographic findings and evolutionary changes of phalangeal cone-shaped epiphyses (PCSE) of the hands are illustrated in this report. The unusual bone maturation and growth of the twins are also described. Both presented poor growth and delayed bone age until about 13 years, followed by marked acceleration of bone age and stunted pubertal height spurt.
本文描述了一对患有I型毛发鼻指骨综合征（TRPS I）的单卵双胞胎女孩，随访时间为8.3至16.1岁。两人均表现出典型的畸形特征和严重身材矮小，但只有一人右侧股骨头骨骺出现类似佩吉特氏病的改变。本报告展示了手部指骨锥形骨骺（PCSE）的影像学表现及演变。还描述了这对双胞胎异常的骨骼成熟和生长情况。两人在13岁左右之前均生长缓慢、骨龄延迟，随后骨龄显著加速，青春期身高突增受阻。
