A Case of Congenital Central Hypoventilation Syndrome in a Three-Generation Family With Non-Polyalanine Repeat PHOX2B Mutation

作者：Low K J^*; Turnbull A R; Smith K R; Hilliard T N; Hole L J; Jones D J Meecham; Williams M M; Donaldson A

来源：Pediatric Pulmonology, 2014, 49(10): E140-E143.

DOI：10.1002/ppul.23051

• CCHS (Congenital Central Hypoventilation Syndrome)
• PHOX2B
• neuroblastoma
• Hirschsprung's disease

We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. Pediatr Pulmonol. 2014; 49:E140-E143.

• 出版日期2014-10