Topf K F, Kletter G B, Kelch R P, Brunberg J A, Biesecker L G
Department of Human Genetics, University of Michigan Medical Center, Ann Arbor.
J Pediatr. 1993 Dec;123(6):943-6. doi: 10.1016/s0022-3476(05)80392-0.
We describe a 9-year-old boy and his 34-year-old father with the Pallister-Hall syndrome. The proband had precocious puberty, imperforate anus, postaxial polydactyly, hypospadias, a hypothalamic mass, and a displaced pituitary gland. The father had polydactyly, a hypothalamic mass, and a flattened pituitary gland. We conclude that the most likely cause of the Pallister-Hall syndrome is a mutation in a gene inherited in an autosomal dominant manner.
我们描述了一名患有帕利斯特-霍尔综合征的9岁男孩及其34岁的父亲。先证者有性早熟、肛门闭锁、轴后多指畸形、尿道下裂、下丘脑肿块和垂体移位。父亲有多指畸形、下丘脑肿块和垂体扁平。我们得出结论，帕利斯特-霍尔综合征最可能的病因是一个以常染色体显性方式遗传的基因突变。
