Indian Journal of Pathology and Microbiology
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Year : 2012  |  Volume : 55  |  Issue : 1  |  Page : 100-103

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

1 Department of Anatomic and Perinatal Pathology, Fernandez Hospital, Bogulkunta, Abids, Hyderabad, India
2 Department of Anatomy, Bhaskar Medical College, Moinabad, RR District, India
3 Department of Obstetrics, Fernandez Hospital, Bogulkunta, Abids, Hyderabad, Andhra Pradesh, India
4 Department of Fetal Medicine, Fernandez Hospital, Bogulkunta, Abids, Hyderabad, Andhra Pradesh, India

Correspondence Address:
Sunil Jaiman
Department of Anatomic Pathology, Fernandez Hospital, Plot # 769, Road # 44, Jubilee Hills, Hyderabad - 500 033, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.94873

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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.

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