Perel Y, Butenandt O, Carrere A, Saura R, Fayon M, Lamireau T, Vergnes P
Department of Paediatrics, Children's Hospital, Groupe Hospitalier Pellegrin, Bordeaux, France.
Arch Dis Child. 1998 Apr;78(4):375-6. doi: 10.1136/adc.78.4.375.
Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's anaemia may have important genetic and therapeutic implications.
食管闭锁通常在没有任何遗传背景的情况下发生。本文报告了3例与范科尼贫血相关的病例。1例新生儿有生长发育迟缓以及包括食管闭锁在内的众多畸形，还有VACTERL综合征的其他4种表现。另外2例仅表现为食管闭锁。对于有此类畸形的患者，早期诊断范科尼贫血可能具有重要的遗传学及治疗意义。
