Friedrich U, Schaefer E, Meinecke P
Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov, Denmark.
Clin Dysmorphol. 1992 Jul;1(3):172-8.
We describe a newborn girl with virtually all the characteristics of campomelic dysplasia except for overt campomelia. This observation and similar cases previously reported indicate that campomelia is a variable feature in campomelic dysplasia. In contrast, hypoplasia of the scapulae is a constant finding and should be regarded as a diagnostic significant sign.
我们描述了一名患有弯肢侏儒症几乎所有特征的新生女婴，但没有明显的弯肢症状。这一观察结果以及先前报道的类似病例表明，弯肢是弯肢侏儒症的一个可变特征。相比之下，肩胛骨发育不全是一个持续存在的表现，应被视为具有诊断意义的体征。
