Ficcadenti A, Lorenzini L, Brocani P, Celani P, Kantar A, Chiaramoni L, Gabrielli O
Istituto di Clinica Pediatrica, l'Università di Ancona.
Pathologica. 1993 Mar-Apr;85(1096):233-9.
We report on a female infant who presents a pattern of malformations including dysmorphic facies, Dandy-Walker anomaly, hypoplasia of the upper lobe of the right lung, associated with diaphragmatic elevation and slight digital anomalies. This whole clinical picture allows us to formulate the diagnosis of Fryns syndrome; this is one of the very few not lethal cases that are reported in literature.
我们报告了一名女婴，其呈现出一系列畸形模式，包括面部畸形、丹迪-沃克畸形、右肺上叶发育不全，并伴有膈肌抬高和轻微的手指异常。基于这一完整的临床表现，我们得以诊断为弗林斯综合征；这是文献中报道的极少数非致死性病例之一。
