一名婴儿患努南综合征，伴有单侧虹膜缺损和先天性乳糜胸。

Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant.

作者信息

Carvalho D R, Alves V V B, Minaré-Júnior A, Peres L C, Pina-Neto J M, Ramos E S

出版信息

Clin Dysmorphol. 2003 Apr;12(2):143-4. doi: 10.1097/00019605-200304000-00015.

DOI:10.1097/00019605-200304000-00015

Abstract

Chylothorax and colobomas are uncommon features reported in Noonan syndrome. We describe an infant with Noonan phenotype, congenital chylothorax and a unilateral iris coloboma. The presence of these both abnormalities in the same patient has not previously been reported.

摘要

乳糜胸和脉络膜缺损是努南综合征中报道的不常见特征。我们描述了一名具有努南表型、先天性乳糜胸和单侧虹膜缺损的婴儿。同一患者同时存在这两种异常情况此前尚未有过报道。