Fusion of vertebrae, diaphragmatic hernia and unusual facies in a girl: a possible further case of Mathieu syndrome

Abstract

Mathieu et al., (1993)reported a family in which a male adult and his son were both affected by unusual facies, cleft palate, congenital brevicollis, diaphragmatic hernia, gastro-oesophageal reflux, and cervical vertebral fusion. Since then, to our knowledge, no other similar cases have been reported. Here we describe a girl presenting with facial features similar to the Mathieu’s patients. The association of cervical vertebral fusion, diaphragmatic hernia, and severe gastro-oesophageal reflux seems to confirm this syndrome.Clin Dysmorphol12:207-208