focal dermal hypoplasia/癲癇性発作

Focal dermal hypoplasia is an X-linked, dominantly inherited syndrome of mesodermal and ectodermal deficits. Although profound dysplasia of connective tissue, especially in the skin and skeleton, inarguably constitutes a predominant feature of focal dermal hypoplasia, the disease occurs in a variety

We present a 4-year-old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of Aicardi

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by