Mathieu M, Bourges E, Caron F, Piussan C
Services de Pédiatrie I, Unité de Cardiologie Pédiatrique, CHRU, Hôpital Nord.
Arch Fr Pediatr. 1990 Nov;47(9):657-9.
Waardenburg syndrome type I is transmitted as an autosomal dominant trait. The main features are dystopia canthorum, partial pigmentary disorder and perceptive deafness. Osteo-articular and intestinal malformations may be observed. In an affected family, the unusual combination of Waardenburg syndrome and severe congenital heart disease has been observed in a child.
I型瓦登伯革氏综合征以常染色体显性特征遗传。主要特征为内眦异位、部分色素沉着紊乱和感音神经性耳聋。可能会观察到骨关节和肠道畸形。在一个患病家庭中,一名儿童出现了瓦登伯革氏综合征与严重先天性心脏病的罕见组合。