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Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise Lipson AH; Yuille D; Angel M; Thompson PG; Vandervoord JG; Beckenham EJJ Med Genet 1991[Sep]; 28 (9): 596-604We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a relatively low incidence of clefting, good response to pharyngoplasty, considerable variability of the syndrome, and two further familial cases. We emphasise the low index of suspicion by paediatricians and paediatric subspecialists which resulted in delayed diagnosis and delayed treatment for the hypernasal speech and velopharyngeal insufficiency for periods of four months to seven years.|Abnormalities, Multiple/*pathology[MESH]|Adolescent[MESH]|Adult[MESH]|Child[MESH]|Child, Preschool[MESH]|Cleft Palate/complications/*pathology/surgery[MESH]|Diseases in Twins[MESH]|Face/*abnormalities[MESH]|Female[MESH]|Heart Defects, Congenital/*pathology[MESH]|Humans[MESH]|Infant[MESH]|Male[MESH]|Speech Disorders/etiology/surgery[MESH]|Syndrome[MESH]|Velopharyngeal Insufficiency/complications/*pathology/surgery[MESH] |
