11番染色体長腕部分欠失症候群に家族性滲出性硝子体網膜症様の網膜血管発育異常をともなった1例

A case of 11 q-deletion syndrome associated with familial exudative vitreoretinopathy

　11番染色体長腕部分欠失症候群に家族性滲出性硝子体網膜症に類似した網膜血管の発育異常がみられた1例を報告した。

　症例は6か月の女児。精神運動発達遅滞，両眼開離症，内眼角贅皮，逆蒙古様瞼裂，眼瞼下垂，鞍鼻，鯉様の口，耳介変形，外斜視，外反扁平足があった。染色体は46,XX,del （11）（q23.3），すなわち11番染色体長腕部分欠失症候群であった。

A 6-month female baby presented with exotropiaand positive angle gamma in the left eye. She wasborn at 39 weeks of gestation weighing 2,360 g.Shereceived no oxygen therapy. She manifestedpsychomotor retardation, hypertelorism, epicanth-us, antimongoloid slant, saddle nose, carp mouth,auricular deformity and planovalgus arches.Chromosomal analysis showed 46, XX, del (11) (q23.3). Both fundus showed avascular area in theperiphery and abnormal pattern of retinal vesselsconsisting in : multiple branching, increase in num-ber, linearization, and anastomosis in the periphery.The left eye showed macular heterotropia andvitreoretinal adhesion in the temporal periphery.The findings simulated those of familial exudativevitreoretinopathy. Family members showed normalfundus. The abnormalities in retinal vessels appear-ed to be related with deletion of the long arm of 11chromosome.