Fusion of vertebrae, diaphragmatic hernia and unusual facies in a girl: a possible further case of Mathieu syndrome.
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.
Zelante
Leopoldo
L
Ruscitto
Maria M
MM
D002648:Child; D002658:Developmental Disabilities / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006548:Hernia, Diaphragmatic / Q000473:pathology*; D006801:Humans; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome