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...
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| Format: | Article |
| Language: | English |
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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 |
| _version_ | 1818218858407788544 |
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| author | Sunil Jaiman Himabindu Nalluri Nuzhat Aziz Geeta Kolar |
| author_facet | Sunil Jaiman Himabindu Nalluri Nuzhat Aziz Geeta Kolar |
| author_sort | Sunil Jaiman |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T07:30:26Z |
| format | Article |
| id | doaj.art-735007a4b4fe4b3da1d980a7228488c2 |
| institution | Directory Open Access Journal |
| issn | 0377-4929 |
| language | English |
| last_indexed | 2024-12-12T07:30:26Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj.art-735007a4b4fe4b3da1d980a7228488c22022-12-22T00:33:02ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49292012-01-0155110010310.4103/0377-4929.94873Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestationSunil JaimanHimabindu NalluriNuzhat AzizGeeta KolarPallister-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.http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2012;volume=55;issue=1;spage=100;epage=103;aulast=JaimanCorticotroph deficiencygenitourinary malformationspituitary hypoplasia |
| spellingShingle | Sunil Jaiman Himabindu Nalluri Nuzhat Aziz Geeta Kolar Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation Indian Journal of Pathology and Microbiology Corticotroph deficiency genitourinary malformations pituitary hypoplasia |
| title | Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation |
| title_full | Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation |
| title_fullStr | Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation |
| title_full_unstemmed | Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation |
| title_short | Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation |
| title_sort | pallister hall syndrome presenting as an intrauterine fetal demise at 39 weeks gestation |
| topic | Corticotroph deficiency genitourinary malformations pituitary hypoplasia |
| url | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2012;volume=55;issue=1;spage=100;epage=103;aulast=Jaiman |
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