Tonoki H, Kishino T, Niikawa N
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Am J Med Genet. 1990 May;36(1):89-93. doi: 10.1002/ajmg.1320360117.
We describe a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome in chromosomally normal sibs. Both had microcephaly, a "coarse" face with synophrys, ear anomalies, type B brachydactyly, nail dysplasia, skeletal anomalies, dwarfism, and mental retardation. Their mother had nail dysplasia, mild mental retardation, and short stature. An uncle, a younger brother of the mother, died at 17 years of age and also had a "coarse" face, digital anomalies, dwarfism, and severe mental retardation. The malformation complex in this family apparently has not been described previously, and the manifestations of the patients do not correspond to those of any known malformation syndrome. The disorder may be attributable to the pleiotropic effect of an autosomal dominant or an X-linked semidominant gene.
我们描述了一种在染色体正常的同胞中出现的新型多发性先天性异常/智力发育迟缓（MCA/MR）综合征。两人均有小头畸形、伴有连眉的“粗糙”面容、耳部异常、B型短指、指甲发育异常、骨骼异常、侏儒症和智力发育迟缓。他们的母亲有指甲发育异常、轻度智力发育迟缓以及身材矮小。母亲的一个弟弟，即患儿的舅舅，17岁时去世，也有“粗糙”面容、手指异常、侏儒症和严重智力发育迟缓。这个家族中的畸形综合征此前显然未曾被描述过，而且患者的表现也不符合任何已知畸形综合征的表现。这种疾病可能归因于常染色体显性基因或X连锁半显性基因的多效性作用。
