患有努南综合征的双胞胎双侧耳廓对称性钙化

IF 1 4区 医学 Q3 SURGERY Journal of Craniofacial Surgery Pub Date : 2024-10-28 DOI:10.1097/SCS.0000000000010804
Courtney Leonard, Sarah Abduljabbar, Samuel Lance
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引用次数: 0

摘要

努南综合征(NS)是一种罕见的遗传性多系统疾病,常伴有颅面畸形。作者报告了一对同卵双胞胎,他们具有NS的典型特征,包括身材矮小、轻度上睑下垂、后凸肥大、睑裂向下倾斜、低位成角耳、颅面部骨骼巨细胞瘤。有趣的是,这些患者还伴有双侧、对称、萎缩性耳廓钙化。基因组测序结果显示,他们的种系同源染色体 7less homolog 1 基因突变和 2 号染色体倒位(p11.2q13)。了解耳廓钙化与 NS 的关联有助于指导这些患者的临床治疗,尤其是在需要进行耳廓手术的情况下。
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Symmetric, Bilateral Auricular Calcifications in Twins With Noonan Syndrome.

Noonan syndrome (NS) is a rare, genetic multisystem disorder often presenting with associated craniofacial abnormalities. The authors report an identical twin pair with classical features of NS including short stature, mild ptosis, hypertelorism, down-slanting palpebral fissures, low-set angulated ears, and giant cell tumors in the craniofacial skeleton. Interestingly, these patients also presented with bilateral, symmetric, dystrophic auricular calcifications. Genome sequencing revealed identical germline son of sevenless homolog 1 mutations and inversion of chromosome 2 (p11.2q13). Awareness of the association of auricular calcifications and NS may help guide clinical management for these patients, particularly if auricular procedures are indicated.

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来源期刊
CiteScore
1.70
自引率
11.10%
发文量
968
审稿时长
1.5 months
期刊介绍: ​The Journal of Craniofacial Surgery serves as a forum of communication for all those involved in craniofacial surgery, maxillofacial surgery and pediatric plastic surgery. Coverage ranges from practical aspects of craniofacial surgery to the basic science that underlies surgical practice. The journal publishes original articles, scientific reviews, editorials and invited commentary, abstracts and selected articles from international journals, and occasional international bibliographies in craniofacial surgery.
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