title: Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation.
abstract: 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.
authors.affiliation: Department of Anatomic and Perinatal Pathology, Fernandez Hospital, Bogulkunta, Abids, Hyderabad, India. suniljaiman@gmail.com
authors.forename: Sunil
authors.initials: S
authors.lastname: Jaiman
authors.forename: Himabindu
authors.initials: H
authors.lastname: Nalluri
authors.forename: Nuzhat
authors.initials: N
authors.lastname: Aziz
authors.forename: Geeta
authors.initials: G
authors.lastname: Kolar
mesh_terms: D000328:Adult; D001344:Autopsy; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D054975:Pallister-Hall Syndrome / Q000175:diagnosis* / Q000473:pathology*; D011247:Pregnancy