Young Marielle P, Sawyer Briana L, Hartnett M Elizabeth
John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.
John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.
J AAPOS. 2014 Apr;18(2):205-7. doi: 10.1016/j.jaapos.2013.11.015.
Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton, teeth, central nervous system, and eyes of affected patients. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.
局灶性真皮发育不全是一种罕见的X连锁显性疾病，男性胎儿在子宫内具有致死性。据报道，受影响的患者在Xp11.23染色体上的PORCN基因中有几种不同的突变。发育异常的中胚层和外胚层组织导致受影响患者的皮肤、骨骼、牙齿、中枢神经系统和眼睛出现临床症状。我们描述了一名18个月大男孩的眼科检查结果，该男孩存在PORCN基因新突变的嵌合体。
