Neu-Laxova Syndrome: An Unusual Association with Kyphosis
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida...
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| Format: | Article |
| Language: | English |
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Federation of Turkish Pathology Societies
2018-09-01
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| Series: | Türk Patoloji Dergisi |
| Subjects: | |
| Online Access: |
http://www.turkjpath.org/pdf.php3?id=1790
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| _version_ | 1797910747912601600 |
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| author | Amandeep KAUR Vijayalaxmi SURANAGİ Kamal PATİL Hema BANNUR |
| author_facet | Amandeep KAUR Vijayalaxmi SURANAGİ Kamal PATİL Hema BANNUR |
| author_sort | Amandeep KAUR |
| collection | DOAJ |
| description | The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis. Skin histology showed hyperkeratosis, edema and increased subcutaneous fat suggestive of ichthyosis. On the basis of gross and microscopic features seen, a diagnosis of Neu-Laxova syndrome was made. |
| first_indexed | 2024-04-10T11:29:20Z |
| format | Article |
| id | doaj.art-f55d4d59ad0b41b298e943f878d64bbc |
| institution | Directory Open Access Journal |
| issn | 1018-5615 1309-5730 |
| language | English |
| last_indexed | 2024-04-10T11:29:20Z |
| publishDate | 2018-09-01 |
| publisher | Federation of Turkish Pathology Societies |
| record_format | Article |
| series | Türk Patoloji Dergisi |
| spelling | doaj.art-f55d4d59ad0b41b298e943f878d64bbc2023-02-15T16:18:12ZengFederation of Turkish Pathology SocietiesTürk Patoloji Dergisi1018-56151309-57302018-09-0134325926110.5146/tjpath.2015.01353Neu-Laxova Syndrome: An Unusual Association with KyphosisAmandeep KAURVijayalaxmi SURANAGİKamal PATİLHema BANNURThe Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis. Skin histology showed hyperkeratosis, edema and increased subcutaneous fat suggestive of ichthyosis. On the basis of gross and microscopic features seen, a diagnosis of Neu-Laxova syndrome was made. http://www.turkjpath.org/pdf.php3?id=1790 Neu-Laxova syndromeLissencephalyKyphosisPHGDH mutation |
| spellingShingle | Amandeep KAUR Vijayalaxmi SURANAGİ Kamal PATİL Hema BANNUR Neu-Laxova Syndrome: An Unusual Association with Kyphosis Türk Patoloji Dergisi Neu-Laxova syndrome Lissencephaly Kyphosis PHGDH mutation |
| title | Neu-Laxova Syndrome: An Unusual Association with Kyphosis |
| title_full | Neu-Laxova Syndrome: An Unusual Association with Kyphosis |
| title_fullStr | Neu-Laxova Syndrome: An Unusual Association with Kyphosis |
| title_full_unstemmed | Neu-Laxova Syndrome: An Unusual Association with Kyphosis |
| title_short | Neu-Laxova Syndrome: An Unusual Association with Kyphosis |
| title_sort | neu laxova syndrome an unusual association with kyphosis |
| topic | Neu-Laxova syndrome Lissencephaly Kyphosis PHGDH mutation |
| url |
http://www.turkjpath.org/pdf.php3?id=1790
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