Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation

• Main Authors: Sunil Jaiman, Himabindu Nalluri, Nuzhat Aziz, Geeta Kolar
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2012-01-01
• Series: Indian Journal of Pathology and Microbiology
• Subjects: Corticotroph deficiency; genitourinary malformations; pituitary hypoplasia
• Online Access: http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2012;volume=55;issue=1;spage=100;epage=103;aulast=Jaiman

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.