Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type
Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type
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肢端骨溶解、瘢痕疙瘩样病变、独特的面部特征和过度生长：两名新发现的早衰综合征 penttinen 型患者
DOI：
10.1002/ajmg.a.35984
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发表时间：
2013
影响因子：
2
通讯作者：
M. le Merrer
中科院分区：
文献类型：
--
作者：
Flore Zufferey;S. Hadj;Annachiara De Sandre;J. Dufier;B. Leheup;Cyril Schweitze;C. Bodemer;V. Cormier;M. le Merrer
我们报告两个无关的患者与罕见的早衰综合征首次描述的Penttinen。患者表现为外观过早老化、牙齿发育延迟、肢端骨质溶解、弥漫性瘢痕疙瘩样病变和眼翼状胬肉。面部特征是渐进的，但在出生时可识别。上颌骨前缩和上颌骨后缩伴假多颌畸形和睑错是特征性的。大拇指和大拇趾宽阔呈匙形。线性增长增加，智力功能得以保留。皮肤回缩和关节挛缩在青春期逐渐发展。在第二个十年，一名患者因限制性呼吸功能不全和恶病质死亡。LMNA和ZMPSTE24测序正常。这种疾病的分子基础仍然未知。© 2013 Wiley Periodicals，Inc.
We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro‐osteolysis, diffuse keloid‐like lesions, and ocular pterygia. Facial features are progressive but recognizable at birth. Premaxillary and maxillary retraction with pseudo‐prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated. Linear growth is increased and intellectual functions are preserved. Skin retractions and joint contractures progressively developed during adolescence. Death occurred in the second decade in one of the patient due to restrictive respiratory insufficiency and cachexia. LMNA and ZMPSTE24 sequencing were normal. The molecular basis of the disorder remains unknown. © 2013 Wiley Periodicals, Inc.