Delozier C D, Engel E
J Genet Hum. 1981 Sep;29(3):365-77.
The authors report two female infants affected with a skeletal malformation syndrome, recently identified and probably genetic in nature, which includes as principal features a craniosynostosis with secondary midfacial hypoplasia and a characteristic facies. More specifically, the skeletal alterations include synostosis of the radius and humerus, congenital bowing of the femurs with fracturing during the neonatal period, and other minor anomalies of the thorax and extremities. The differential diagnosis includes serveral skeletal dysplasias such as the Campomelic syndrome, certain of the Acrocephalosyndactylies, and Osteodysgenesis Imperfecta. However, global comparison of the clinical and radiographic features permits their exclusion, allowing the consideration that we are dealing with a new syndrome, which has been named Multisynostotic Osteodysgenesis. The etiology of this disorder has not been elucidated, the two cases being isolated and without parental consanguinity. The authors, however, favor the theory of autosomal dominant inheritance. The difficulty of providing genetic counseling in the case of such poorly-understood syndromes is emphasized.
作者报告了两名患有骨骼畸形综合征的女婴，该综合征最近才被发现，可能具有遗传性质，其主要特征包括颅缝早闭伴继发性面中部发育不全以及特征性面容。更具体地说，骨骼改变包括桡骨和肱骨融合、新生儿期股骨先天性弓形弯曲并伴有骨折，以及胸部和四肢的其他轻微异常。鉴别诊断包括几种骨骼发育异常，如弯肢侏儒综合征、某些尖头并指畸形以及成骨不全症。然而，通过对临床和影像学特征的全面比较可以排除这些疾病，从而认为我们正在处理一种新的综合征，已将其命名为多关节融合性骨发育异常。这种疾病的病因尚未阐明，这两个病例为散发病例，父母无血缘关系。不过，作者倾向于常染色体显性遗传理论。文中强调了对于此类了解甚少的综合征进行遗传咨询的困难。
