Ferrández A, Remírez J, Sáenz P, Calvo M
Helv Paediatr Acta. 1980 Dec;35(6):559-67.
Four familial cases of trichorhinophalangeal syndrome have been observed. These four and five other possible cases in the same family confirm the autosomal dominant inheritance and show a wide clinical expressivity. The radiological study of case 1 also confirms the existence of a characteristic generalized bone dysplasia. This syndrome bears in itself short stature of unknown etiology with normal growth hormone production. The skeletal deformities doe not affect the physical activity, and life span is not reduced.
已观察到4例毛发鼻指综合征家族病例。这4例以及同一家庭中的其他5例可能病例证实了常染色体显性遗传，并显示出广泛的临床表型。病例1的放射学研究也证实了存在一种特征性的全身性骨发育异常。该综合征本身存在病因不明的身材矮小，但生长激素分泌正常。骨骼畸形不影响身体活动，寿命也未缩短。
