未经证实:FBLN5相关的皮肤松弛是一种非常罕见的,常染色体隐性综合征的特点是松散,皱纹,和多余的皮肤,下垂的脸颊,肺气肿,主动脉或肺动脉异常,腹股沟疝,胃肠道和泌尿道憩室。
未经批准:在这项研究中,我们报道了一个8岁的土耳其女孩,在FBLN5基因中具有一个新的纯合错义变异,c.862G>T,p.(Asp288Tyr)。她不受影响的父母是相同变体的携带者。病人皮肤松弛,身材矮小,宽阔的眉毛,大耳朵,腹股沟疝,频繁的呼吸道感染,外周肺动脉狭窄的病史,和双手第四根手指挛缩。
未经授权:据我们所知,迄今为止,已经有8个家庭,这个家庭是第三个与FBLN5相关的土耳其家庭。除了皮肤松弛的经典发现,患者的双手都有第四指挛缩。该报告有助于FBLN5相关的皮肤松弛的持续临床和遗传表征。
UNASSIGNED: FBLN5-related cutis laxa is a very rare, autosomal recessive syndrome that is characterized by loose, wrinkled, and redundant skin, sagging cheeks, emphysema, aortic or pulmonary artery abnormalities, inguinal hernia, and diverticula of the gastrointestinal and urinary tract.
UNASSIGNED: In this study, we report an 8-year-old Turkish girl with a novel homozygous missense variant in the FBLN5 gene, c.862G>T, p.(Asp288Tyr). Her unaffected parents were carriers of the same variant. The patient had loose skin, short stature, broad eyebrows, large ears, inguinal hernia, frequent respiratory tract infections, a history of peripheral pulmonary artery stenosis, and fourth finger contractures on both hands.
UNASSIGNED: To our knowledge, 8 families have been reported to date, and this family is the third Turkish family with FBLN5-related cutis laxa. In addition to the classical findings of cutis laxa, the patient had fourth finger contractures on both hands. This report contributes to the ongoing clinical and genetic characterization of FBLN5-related cutis laxa.