Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation
Meier-Gorlin syndrome (MGS) or ear-patella-short stature syndrome (MIM 224690) is a rarely reported autosomal recessive disorder having characteristic triad of microtia, short stature and aplastic or hypoplastic patella. Only 67 cases are reported. <br />We are reporting a newborn female baby...
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| Format: | Article |
| Language: | English |
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Hygeia Press di Corridori Marinella
2016-02-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | http://www.jpnim.com/index.php/jpnim/article/view/050123 |
| _version_ | 1818962855963131904 |
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| author | Nabanita Kora Kaustav Nayek Baisakhi Soren Rajib Das |
| author_facet | Nabanita Kora Kaustav Nayek Baisakhi Soren Rajib Das |
| author_sort | Nabanita Kora |
| collection | DOAJ |
| description | Meier-Gorlin syndrome (MGS) or ear-patella-short stature syndrome (MIM 224690) is a rarely reported autosomal recessive disorder having characteristic triad of microtia, short stature and aplastic or hypoplastic patella. Only 67 cases are reported. <br />We are reporting a newborn female baby with typical features of MGS along with some other features never described before, ventriculomegaly and hypoplastic corpus callosum. <br />We did x-rays of whole body (infantogram) and MRI of brain for microcephaly. <br />Ultrasonography of both knees showed absence of patellae and brain MRI showed ventriculomegaly and hypoplastic corpus callosum. <br />To our best knowledge this is the second case report of MGS in India; the first reported a MGS associated with papilledema. In previously reported cases, there was no statement regarding agenesis of corpus callosum. |
| first_indexed | 2024-12-20T12:35:58Z |
| format | Article |
| id | doaj.art-4852e4a95f4040cfa9bd91b3a973e3c8 |
| institution | Directory Open Access Journal |
| issn | 2281-0692 |
| language | English |
| last_indexed | 2024-12-20T12:35:58Z |
| publishDate | 2016-02-01 |
| publisher | Hygeia Press di Corridori Marinella |
| record_format | Article |
| series | Journal of Pediatric and Neonatal Individualized Medicine |
| spelling | doaj.art-4852e4a95f4040cfa9bd91b3a973e3c82022-12-21T19:40:37ZengHygeia Press di Corridori MarinellaJournal of Pediatric and Neonatal Individualized Medicine2281-06922016-02-0151e050123e05012310.7363/050123050123Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformationNabanita Kora0Kaustav Nayek1Baisakhi Soren2Rajib Das3Department of Pediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, IndiaDepartment of Pediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, IndiaDepartment of Pediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, IndiaDepartment of Pediatrics, Burdwan Medical College and Hospital, Burdwan, West Bengal, IndiaMeier-Gorlin syndrome (MGS) or ear-patella-short stature syndrome (MIM 224690) is a rarely reported autosomal recessive disorder having characteristic triad of microtia, short stature and aplastic or hypoplastic patella. Only 67 cases are reported. <br />We are reporting a newborn female baby with typical features of MGS along with some other features never described before, ventriculomegaly and hypoplastic corpus callosum. <br />We did x-rays of whole body (infantogram) and MRI of brain for microcephaly. <br />Ultrasonography of both knees showed absence of patellae and brain MRI showed ventriculomegaly and hypoplastic corpus callosum. <br />To our best knowledge this is the second case report of MGS in India; the first reported a MGS associated with papilledema. In previously reported cases, there was no statement regarding agenesis of corpus callosum.http://www.jpnim.com/index.php/jpnim/article/view/050123Meier-Gorlin syndromeear-patella-short stature syndromemicrotiaventriculomegalyhypoplastic corpus callosum |
| spellingShingle | Nabanita Kora Kaustav Nayek Baisakhi Soren Rajib Das Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation Journal of Pediatric and Neonatal Individualized Medicine Meier-Gorlin syndrome ear-patella-short stature syndrome microtia ventriculomegaly hypoplastic corpus callosum |
| title | Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation |
| title_full | Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation |
| title_fullStr | Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation |
| title_full_unstemmed | Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation |
| title_short | Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation |
| title_sort | meier gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum a rarely reported congenital malformation |
| topic | Meier-Gorlin syndrome ear-patella-short stature syndrome microtia ventriculomegaly hypoplastic corpus callosum |
| url | http://www.jpnim.com/index.php/jpnim/article/view/050123 |
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