Jaiman Sunil, Nalluri Himabindu, Aziz Nuzhat, Kolar Geeta
Department of Anatomic and Perinatal Pathology, Fernandez Hospital, Bogulkunta, Abids, Hyderabad, India.
Indian J Pathol Microbiol. 2012 Jan-Mar;55(1):100-3. doi: 10.4103/0377-4929.94873.
Pallister-Hall syndrome (PHS) is a pleiotropic autosomal-dominant malformation syndrome rarely presenting with genitourinary malformations. Literature has recorded 14 cases of PHS with genitourinary findings out of which only six have been females presenting with hydrometrocolpos and/or vaginal atresia. Fetal autopsy findings on a 39 weeks' gestation including demonstration of corticotroph deficiency in the pituitary, along with the review of literature is being presented here. None of the earlier literature pertaining to PHS with hydrometrocolpos and/or vaginal atresia describes an intrauterine fetal demise due to corticotroph deficiency.
帕利斯特-霍尔综合征（PHS）是一种多效性常染色体显性畸形综合征，很少出现泌尿生殖系统畸形。文献记载了14例有泌尿生殖系统表现的PHS病例，其中只有6例为女性，表现为阴道积血和/或阴道闭锁。本文报告了一例妊娠39周胎儿尸检结果，包括垂体促肾上腺皮质激素缺乏的表现，并对相关文献进行了综述。以往关于伴有阴道积血和/或阴道闭锁的PHS的文献均未描述因促肾上腺皮质激素缺乏导致的宫内胎儿死亡。
