Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation
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 atre...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Indian Journal of Pathology and Microbiology |
| Subjects: | |
| Online Access: | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2012;volume=55;issue=1;spage=100;epage=103;aulast=Jaiman |
| Summary: | 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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| ISSN: | 0377-4929 |