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骨发育异常(梅尔尼克-尼德尔斯综合征)(作者译)

[Osteodysplasty (Melnick-Needles syndrome) (author's transl)].

作者信息

de la Cruz Sevilla E, Moscardó L C, Verdú Bellod J F, López Martínez E, Ruíz de la Cuesta F

出版信息

An Esp Pediatr. 1980 Aug;13(8):704-9.

PMID:7436151
Abstract

Authors report a new case of osteodisplasty (Melnick-Needles syndrome) and describe radiological findings that are typical of this entity: bony sclerosis of base structures, abnormal dental alignment, sclerosis and irregularity of clavicles and ribs, described as "band-like" deformity, cortical irregularity of tubular bones with metaphyseal flaring and diaphyseal bowing. Flat bones are broadened, particularly iliac crest and vertebral bones. Facial features described by the majority of authors in this entity are present in our patient in an incomplete form: craniofacial disproportion, micrognatia, depressed temples, exophthalmus (not in our patient) and broadened forehead. The paper is intended to gather clinical data of already reported cases in order to facilitate clinical research in the future from the immunological, genetical and biochemical points of view. Our patient has the same clinical history as the patient studied in the original paper. Dr. Melnick was kind enough to send us clinical data and autopsy findings.

摘要

作者报告了一例骨发育异常(梅尔尼克-尼德尔斯综合征)的新病例,并描述了该病症典型的放射学表现:基础结构的骨质硬化、牙齿排列异常、锁骨和肋骨的硬化及不规则,呈“带状”畸形,管状骨皮质不规则伴干骺端增宽和骨干弓形弯曲。扁骨增宽,尤其是髂嵴和椎骨。该病症大多数作者所描述的面部特征在我们的患者中以不完全的形式存在:颅面比例失调、小颌畸形、颞部凹陷、眼球突出(我们的患者没有)和额头变宽。本文旨在收集已报道病例的临床数据,以便从免疫学、遗传学和生物化学角度为未来的临床研究提供便利。我们的患者与原始论文中研究的患者有相同的临床病史。梅尔尼克医生好心地给我们发送了临床数据和尸检结果。

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