Abstract：
Focal dermal hypoplasia (FDH) is a rare X-linked dominant syndrome characterized by streaky cutaneous atrophy in a blaschkoid distribution, skeletal dysplasias, and ocular abnormalities. Here, we report hypospadias and chordee identified in a male patient with molecularly confirmed FDH. This report highlights a new clinical manifestation of male patients with FDH.
摘要：
局灶性真皮发育不全（FDH）是一种罕见的X连锁显性综合征，其特征是斑驳状皮肤萎缩，骨骼发育不良,和眼部异常。这里,我们报道了在1例分子证实为FDH的男性患者中发现的尿道下裂和尿道下裂。本报告重点介绍了男性FDH患者的新临床表现。
