TY - JOUR
T1 - Encephalocraniocutaneous lipomatosis
T2 - Case report and review of the literature
AU - Almer, Zina
AU - Vishnevskia-Dai, Victoria
AU - Zadok, David
PY - 2003/5
Y1 - 2003/5
N2 - Purpose. Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. Methods. To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. Conclusion. Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.
AB - Purpose. Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. Methods. To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. Conclusion. Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.
KW - Bilateral aniridia
KW - Bilateral epibulbar lipodermoids
KW - Coloboma
KW - Encephalocraniocutaneous lipomatosis
UR - http://www.scopus.com/inward/record.url?scp=0037648634&partnerID=8YFLogxK
U2 - 10.1097/00003226-200305000-00023
DO - 10.1097/00003226-200305000-00023
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C2 - 12792489
AN - SCOPUS:0037648634
VL - 22
SP - 389
EP - 390
JO - Cornea
JF - Cornea
SN - 0277-3740
IS - 4
ER -