Golabi M, Ito M, Hall B D
Am J Med Genet. 1984 Jan;17(1):367-74. doi: 10.1002/ajmg.1320170130.
We report on 2 boys, the sons of sisters, and their mother's brother who have a new, X-linked multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata. His chromosomes were normal. His cousin and uncle were similarly affected. This distinctive MCA/MR syndrome is added to the list of X-linked malformation syndromes known at the present time.
我们报告了两名男孩，他们是姐妹的儿子，以及他们母亲的兄弟，他们患有一种新的X连锁多发性先天性异常/智力障碍（MCA/MR）综合征。先证者是一名16个月大的白人男性，有以下症状：1）智力障碍；2）先天性小头畸形；3）出生后生长发育迟缓；4）额缝隆起且双额径狭窄；5）睑裂向上倾斜，伴有持续性内眦赘皮、斜视和泪道阻塞；6）腭狭窄；7）巨牙症；8）耳前倾；9）房间隔缺损；10）头皮毛发干燥易脆；11）大理石样皮肤。他的染色体正常。他的表弟和舅舅也有类似症状。这种独特的MCA/MR综合征被添加到目前已知的X连锁畸形综合征列表中。
