Navarro González J, Cintado Bueno C, Tomás Pérez M, Cortada Ruiz-Azcárraga A
An Esp Pediatr. 1977 Feb;10(2):173-86.
A family suffering from hypochondroplasia in which father, mother and offspring are affected and in whose family tree various probably affected members are found on both sides, according to a pattern of autosomic dominant heritage is presented. The difficulty of diagnosis is discussed, not only in the first years of life but also later on, and in mild or moderate forms, which may in part explain the few cases reported in the literature.
本文报道了一个患软骨发育不全的家族，其中父亲、母亲和后代均受影响，根据常染色体显性遗传模式，在其家族谱系中，两侧均发现了各种可能受影响的成员。文中讨论了诊断的困难，不仅在生命的最初几年，而且在后期，以及在轻度或中度形式中，这可能部分解释了文献中报道的病例较少的原因。
