[A case of the cardiofacial syndrome (Cayler's syndrome)].
We report a case of cardiofacial syndrome that seems to be genetically transmitted as an autosomal dominant trait. It is characterized by hypoplasia of depressor anguli oris muscle and perimembranous ventricular septal defect. We emphasize the importance of performing diagnostic tests in these patients (cardiac assessment, spinal x-ray, renal echo) in order to rule out associated malformations.
D'Addio
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AP
Sezione Autonoma di Pediatria, Ospedale Generale di Zona Figlie di S. Camillo, Roma.
Taiti
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Vitarelli
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D003448:Crying; D005146:Facial Asymmetry / Q000175:diagnosis* / Q000235:genetics; D005149:Facial Expression; D005152:Facial Muscles / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D013577:Syndrome
Su di un caso di sindrome cardio-facciale (sindrome di Cayler).