Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother
Agnathia, holoprosencephaly and situs inversus complex is an extremely rare form of congenital malformation. Though a few cases have been reported from other parts of the world, to the best of our knowledge none has been reported from India so far. Maternal alcoholism is regarded as an important f...
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JCDR Research and Publications Private Limited
2015-05-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/5884/12733_CE[Ra]_F(P)_PF1(AGAK)_PFA(AK)_PF2(PAG).pdf |
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| author | Dibyajyoti Goswami Giriraj Kusre |
| author_facet | Dibyajyoti Goswami Giriraj Kusre |
| author_sort | Dibyajyoti Goswami |
| collection | DOAJ |
| description | Agnathia, holoprosencephaly and situs inversus complex is an extremely rare form of congenital malformation. Though a few cases
have been reported from other parts of the world, to the best of our knowledge none has been reported from India so far. Maternal
alcoholism is regarded as an important factor causing holoprosencephaly. Disruption of the Shh gene signaling pathway is also said to
be a factor for the occurrence of holoprosencephaly as well as left right asymmetry. Though several factors are suspected as a cause of
this deformity, the precise aetiopathogenesis is still under debate. Lack of knowledge might be due to paucity of data from cases due to
its rarity. Hereby, we are presenting a case of agnathia, holoprosencephaly and situs inversus born at 32 wk of gestation by an alcoholic
mother. Externally the child had agnathia and cyclopia. There was no mandible or any oral cavity. It was accompanied by noticeable limb
deformity. Internally there was holoprosencephaly, situs inversus totalis with several visceral abnormalities. To the best of our knowledge
this is the first case of agnathia, holoprosencephaly and situs inversus complex to be reported in an indexed literature from India. This
report also strengthens the association of maternal alcoholism with occurrence of holoprosencephaly. |
| first_indexed | 2024-12-11T07:25:50Z |
| format | Article |
| id | doaj.art-ce3f2756041647ee92fb30672c690660 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-11T07:25:50Z |
| publishDate | 2015-05-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-ce3f2756041647ee92fb30672c6906602022-12-22T01:15:57ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2015-05-0195AD01AD0210.7860/JCDR/2015/12733.5884Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic MotherDibyajyoti Goswami0Giriraj Kusre1Post Graduate Trainee, Department of Anatomy, Assam Medical College and Hospital, Dibrugarh, Assam, India.Associate Professor, Department of Anatomy, Assam Medical College and Hospital, Dibrugarh, Assam, India.Agnathia, holoprosencephaly and situs inversus complex is an extremely rare form of congenital malformation. Though a few cases have been reported from other parts of the world, to the best of our knowledge none has been reported from India so far. Maternal alcoholism is regarded as an important factor causing holoprosencephaly. Disruption of the Shh gene signaling pathway is also said to be a factor for the occurrence of holoprosencephaly as well as left right asymmetry. Though several factors are suspected as a cause of this deformity, the precise aetiopathogenesis is still under debate. Lack of knowledge might be due to paucity of data from cases due to its rarity. Hereby, we are presenting a case of agnathia, holoprosencephaly and situs inversus born at 32 wk of gestation by an alcoholic mother. Externally the child had agnathia and cyclopia. There was no mandible or any oral cavity. It was accompanied by noticeable limb deformity. Internally there was holoprosencephaly, situs inversus totalis with several visceral abnormalities. To the best of our knowledge this is the first case of agnathia, holoprosencephaly and situs inversus complex to be reported in an indexed literature from India. This report also strengthens the association of maternal alcoholism with occurrence of holoprosencephaly.https://jcdr.net/articles/PDF/5884/12733_CE[Ra]_F(P)_PF1(AGAK)_PFA(AK)_PF2(PAG).pdfalcoholbirth defectcongenitalcyclopiamaternalshh gene |
| spellingShingle | Dibyajyoti Goswami Giriraj Kusre Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother Journal of Clinical and Diagnostic Research alcohol birth defect congenital cyclopia maternal shh gene |
| title | Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother |
| title_full | Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother |
| title_fullStr | Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother |
| title_full_unstemmed | Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother |
| title_short | Agnathia Holoprosencephaly and Situs Inversus in A Neonate Born to an Alcoholic Mother |
| title_sort | agnathia holoprosencephaly and situs inversus in a neonate born to an alcoholic mother |
| topic | alcohol birth defect congenital cyclopia maternal shh gene |
| url | https://jcdr.net/articles/PDF/5884/12733_CE[Ra]_F(P)_PF1(AGAK)_PFA(AK)_PF2(PAG).pdf |
| work_keys_str_mv | AT dibyajyotigoswami agnathiaholoprosencephalyandsitusinversusinaneonateborntoanalcoholicmother AT girirajkusre agnathiaholoprosencephalyandsitusinversusinaneonateborntoanalcoholicmother |