Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital...

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Bibliographic Details
Main Authors: Rafael Fabiano Machado Rosa, Flávia Enk, Korine Camargo, Giovanni Marco Travi, André Freitas, Rosana Cardoso Manique Rosa, Carla Graziadio, Vinicius Freitas de Mattos, Paulo Ricardo Gazzola Zen
Format: Article
Language:English
Published: Associação Paulista de Medicina
Series:São Paulo Medical Journal
Subjects:
Microcephaly
Retina
Intellectual disability
Consanguinity
Toxoplasmosis
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400377&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400377&lng=en&tlng=en

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