Akar Ahmet, G l Davut, Erdem Zeyir, Sarathchandra Padmini, Tysoe Carolyn, Pope Mike
Dept. of Dermatology, G lhane Military Medical Academy, School of Medicine, 06018 Ankara, Turkey.
Eur J Dermatol. 2002 Sep-Oct;12(5):428-31.
We report a 21 year-old Turkish male with acrogeric Ehlers-Danlos syndrome type IV, a rare autosomal dominant disorder. In addition to the usual findings, the patient also had glaucoma and some unusual skeletal features including impressio digitalis in the skull, prognathism of the lower jaw and maxiller hypoplasia, not previously described as part of acrogeric Ehlers-Danlos syndrome type IV. These features expand the phenotypic spectrum of acrogeric Ehlers-Danlos syndrome type IV.
我们报告了一名21岁的土耳其男性，患有IV型肢端早老性埃勒斯-当洛综合征，这是一种罕见的常染色体显性疾病。除了常见的表现外，该患者还患有青光眼以及一些不寻常的骨骼特征，包括颅骨上的指压痕、下颌前突和上颌发育不全，这些特征此前未被描述为IV型肢端早老性埃勒斯-当洛综合征的一部分。这些特征扩展了IV型肢端早老性埃勒斯-当洛综合征的表型谱。
