Digilio M C, Marino B, Borzaga U, Giannotti A, Dallapiccola B
Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
Am J Med Genet. 1997 Dec 31;73(4):480-3.
We report on the occurrence of Pfeiffer-type cardiocranial syndrome in a brother and sister born to unaffected parents. The cardinal manifestations of the syndrome are congenital heart defect, sagittal craniosynostosis, genital anomalies, and mental and growth retardation. The craniosynostosis was present in only one of the sibs, suggesting intrafamilial variability of the syndrome. The clinical spectrum of cardiocranial syndrome is further expanded by the inclusion of renal, joint, and palpebral abnormalities detected in our patients. The occurrence of the syndrome in a brother-sister sib pair supports the hypothesis of an autosomal-recessive inheritance.
我们报告了一对父母正常的兄妹患法伊弗型心颅综合征的病例。该综合征的主要表现为先天性心脏缺陷、矢状缝早闭、生殖器异常以及智力和生长发育迟缓。颅缝早闭仅在其中一名患儿中出现，提示该综合征存在家族内变异性。我们的患者中检测到的肾脏、关节和眼睑异常进一步扩展了心颅综合征的临床谱。该综合征在一对兄妹中的出现支持了常染色体隐性遗传的假说。
