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Indian Journal of Maternal-Fetal & Neonatal Medicine 4(1):p 87-88, January - June 2017. | DOI: DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4117.16
Case Report
Macrocephaly-Capillary Malformation: A Neonatal Case Report
Liza Bulsara* , Liza Bulsara* , Sunil Mhaske**
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Indian Journal of Maternal-Fetal & Neonatal Medicine 4(1):p 87-88, January - June 2017. | DOI: DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4117.16
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Abstract
Macrocephaly-capillary malformation (M-CM/ MCAP) was formerly known as Macrocephaly-cutis marmorata telangiectatica congenita. It is a multiple congenitial syndrome , which was first described in 1997 and it was renamed as “ Macrocephaly – capillary malformation” in 2007. It is a multiple malformation syndrome which involves body and head overall abnormal growth, abnormalities of skin , vascular abnormalities and neurological problems ( seizures, hypotonia), cortical brain malformations, most distinctively polymicrogyria. This disorder is attributed to PIK3CA gene mutation. Till now, There are only 130 reported cases of M-CM, there are likely many more affected individuals who have been misdiagnosed, are unrecognized or have not been published in the medical literature.
Keywords: Macrocephaly; Neonatal; Congenitial syndrome
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DOI: DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4117.16
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