Verloes A, Gillerot Y, Delfortrie J, Zeevaert-Arnold M T, Collard R, Koulischer L, Fryns J P
Centre for Human Genetics, Liège University, Belgium.
Genet Couns. 1990;1(3-4):219-25.
We report two sibs with an undescribed MCA/MR syndrome. Both had a 46,XY chromosome constitution. The first patient is profoundly mentally retarded. Clinical features include short stature, coarse face, deep set eyes, microphthalmia, large ears, gynecoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Müllerian structures, and low gonadotrophin levels. His XY sib was raised as a girl. She was slightly mentally impaired. She had microphthalmia and large ears, and was short. A complete uterus with tubae and a single intraabdominal gonad with testicular organization were removed during infancy. Those anomalies do not fit any previously reported syndrome, although the general aspect of the propositus clearly resembles Borjeson-Forssman-Lehmann syndrome. Inheritance could be either autosomal recessive or X-linked.
我们报告了两例患有一种未描述的MCA/MR综合征的同胞。两人的染色体构成均为46,XY。首例患者存在严重智力发育迟缓。临床特征包括身材矮小、面容粗糙、眼窝深陷、小眼症、大耳、女性化肥胖、肛门闭锁、骶部脊柱裂、会阴阴囊型假性阴道性尿道下裂、苗勒氏结构持续存在以及促性腺激素水平低。他的XY同胞被当作女孩抚养。她有轻度智力障碍。她患有小眼症和大耳，且身材矮小。婴儿期切除了一个完整的子宫及输卵管和一个具有睾丸组织的单腹腔内性腺。尽管先证者的总体表现明显类似于博耶森-福斯曼- Lehmann综合征，但这些异常并不符合任何先前报道的综合征。遗传方式可能为常染色体隐性或X连锁。
