Cardiac malformations in the velocardiofacial syndrome.

摘要: Abstract A similar pattern of congenital anomalies found in 27 children, 9 male and 18 female, aged 2 weeks to 17 years, allows the conclusion that they represent a newly recognized malformation syndrome. All patients had velopharyngeal insufficiency, submucous or overt cleft secondary palate learning disabilities. facies, characterized by long vertical face, large fleshy nose with broad nasal bridge, flattened malar region, narrow palpebral fissures deep overbite retruded mandible, was usually present. Other noncardiac also occurred frequently. Twenty-three (85 percent) cardiovascular malformations whose occurrence as single combined lesions far exceeded expected incidence children heart disease. ventricular septal defect present 15, tetralogy Fallot 5. Prolapse right aortic cusp two defect, valve disease insufficiency one patient tetralogy. The arch right-sided 12 patients, conjunction 5, association 4 absence associated cardiac 3. descended on 10 patients; it crossed retroesophageally descend left, these presented “third syndrome.” Aberrant origin left subclavian artery five arch. patent ductus arteriosus caused congestive failure infancy small defect; three others additional clinically minor anomalies. Two were brother sister. Their mother mothers other showed evidence same syndrome, suggesting possibility autosomal dominant X chromosome-linked transmission.