Goldblatt J, Wallis C, Viljoen D
Department of Human Genetics and Medicine, University of Cape Town Medical School, Republic of South Africa.
Am J Dis Child. 1987 Nov;141(11):1168-9.
Three brothers had a syndrome of hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails. No other family members were affected, and this previously undelineated condition appears to be inherited in either an autosomal recessive or X-linked recessive mode.
三兄弟患有尿道下裂和智力障碍综合征,伴有小头畸形、颅面畸形、关节松弛和喙状指甲。没有其他家庭成员受影响,这种以前未被描述的病症似乎以常染色体隐性或X连锁隐性模式遗传。