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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| Main Authors: | , , , |
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| Format: | Book |
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Hygeia Press di Corridori Marinella,
2016-02-01T00:00:00Z.
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| Summary: | 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. |
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| Item Description: | 2281-0692 10.7363/050123 |