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Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature
Author(s) -
EventovFriedman Smadar,
Singer Amihood,
Shinwell Eric S
Publication year - 2009
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2008.01161.x
Subject(s) - microcephaly , medicine , lymphedema , pediatrics , variable expression , genetics , cancer , breast cancer , biology , gene
Background: The rare congenital combination of microcephaly, lymphedema and chorioretinopathy (MLCD) has been described. Recently, three cases with these clinical characteristics have been diagnosed as having, in addition, various congenital cardiac anomalies, which may be part of this genetic entity that presents with variable expression. Clinical observation: Here we present a new case of a one‐year‐old infant who was born with microcephaly and lymphedema and atrial septal defect (ASD) and developed chorioretinopathy at the age of 6 months. This infant had normal neurodevelopment at one year of age. Conclusion: We recommend that cardiac evaluation and long‐term ophthalmologic follow‐up should be part of the evaluation in each child born with microcephaly and lymphedema. Family counseling should include the fact that normal to near‐normal development may be possible, despite the presence of microcephaly.