Lethal multiple pterygium syndrome
The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2016-01-01
|
| Series: | Journal of Family Medicine and Primary Care |
| Subjects: | |
| Online Access: | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2016;volume=5;issue=2;spage=477;epage=478;aulast=Joshi |
| _version_ | 1818649374387863552 |
|---|---|
| author | Tulika Joshi Nazia Nagori Noor Moolraj Kural Amita Tripathi |
| author_facet | Tulika Joshi Nazia Nagori Noor Moolraj Kural Amita Tripathi |
| author_sort | Tulika Joshi |
| collection | DOAJ |
| description | The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome. |
| first_indexed | 2024-12-17T01:33:18Z |
| format | Article |
| id | doaj.art-4a28f39e2427449d9531278f34f42941 |
| institution | Directory Open Access Journal |
| issn | 2249-4863 |
| language | English |
| last_indexed | 2024-12-17T01:33:18Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj.art-4a28f39e2427449d9531278f34f429412022-12-21T22:08:31ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632016-01-015247747810.4103/2249-4863.192361Lethal multiple pterygium syndromeTulika JoshiNazia Nagori NoorMoolraj KuralAmita TripathiThe multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome.http://www.jfmpc.com/article.asp?issn=2249-4863;year=2016;volume=5;issue=2;spage=477;epage=478;aulast=JoshiCleft palateclub footcystic hygromaEscobar syndromemultiple pterygium syndromepterygium |
| spellingShingle | Tulika Joshi Nazia Nagori Noor Moolraj Kural Amita Tripathi Lethal multiple pterygium syndrome Journal of Family Medicine and Primary Care Cleft palate club foot cystic hygroma Escobar syndrome multiple pterygium syndrome pterygium |
| title | Lethal multiple pterygium syndrome |
| title_full | Lethal multiple pterygium syndrome |
| title_fullStr | Lethal multiple pterygium syndrome |
| title_full_unstemmed | Lethal multiple pterygium syndrome |
| title_short | Lethal multiple pterygium syndrome |
| title_sort | lethal multiple pterygium syndrome |
| topic | Cleft palate club foot cystic hygroma Escobar syndrome multiple pterygium syndrome pterygium |
| url | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2016;volume=5;issue=2;spage=477;epage=478;aulast=Joshi |
| work_keys_str_mv | AT tulikajoshi lethalmultiplepterygiumsyndrome AT nazianagorinoor lethalmultiplepterygiumsyndrome AT moolrajkural lethalmultiplepterygiumsyndrome AT amitatripathi lethalmultiplepterygiumsyndrome |