Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature.
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.


METHODS
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.


CONCLUSIONS
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.
Eventov-Friedman
Smadar
S
Department of Neonatology, Kaplan Medical Center, Rehovot and Hebrew University, Jerusalem, Israel.
Singer
Amihood
A
Shinwell
Eric S
ES
D000015:Abnormalities, Multiple / Q000235:genetics; D002825:Chorioretinitis / Q000151:congenital / Q000235:genetics; D018450:Disease Progression; D005820:Genetic Testing; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008209:Lymphedema / Q000151:congenital / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D015997:Neonatal Screening; D010641:Phenotype; D013577:Syndrome