Bisceglia M, Zelante L, Bosman C, Cera R, Dallapiccola B
Eur J Pediatr. 1987 May;146(3):283-7. doi: 10.1007/BF00716474.
Two siblings whose clinical and pathologic features were consistent with the "Syndrome of camptodactyly, multiple ankyloses and pulmonary hypoplasia" originally described by Pena and Shokeir were examined at autopsy. Additional features were intrauterine growth retardation, immaturity of the central nervous system (CNS) and atrophy of skeletal muscles. Our data suggest that CNS damage may cause the complicated phenotypic abnormalities of the syndrome.
对两名临床和病理特征与最初由佩纳（Pena）和肖凯尔（Shokeir）描述的“屈曲指、多发性关节强直和肺发育不全综合征”相符的兄弟姐妹进行了尸检。其他特征包括宫内生长迟缓、中枢神经系统（CNS）不成熟和骨骼肌萎缩。我们的数据表明，中枢神经系统损伤可能导致该综合征复杂的表型异常。
