Porteous M E, Burn J
Division of Human Genetics, University of Newcastle upon Tyne.
J Med Genet. 1990 May;27(5):339-40. doi: 10.1136/jmg.27.5.339.
The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.
先证者是一对非近亲父母的第一个孩子，婴儿期被发现有小头畸形、发育迟缓、面容畸形、肌张力减退、小阴茎伴隐睾症以及左手食指固定性屈曲畸形。他的舅舅严重智力发育迟缓且有相似的面容畸形。
