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

&NA; 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 Dysmorphol 12:207‐208