Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

IF 1.3 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2026-03-14 DOI:10.1038/s41439-026-00340-8

Jun Kido, Hiroe Ueno, Yohei Misumi, Keishin Sugawara, Suzuran Saito, Eriko Koshimizu, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

引用次数: 0

Abstract

Escobar syndrome is a rare congenital disorder characterized by contractures, pterygia and craniofacial anomalies. Here we report a school-age girl harboring compound-heterozygous CHRNG variants, NM_005199.5:c.[2T>C];[428C>G] p.[(Met1?)];[(Pro143Arg)]. She presented with neonatal asphyxia, congenital limb contractures and low-frequency hearing loss but without pterygia, maintaining normal cognition. This case underscores the phenotypic variability of CHRNG-related disease and alerts clinicians to recognize milder presentations that lack pterygia and to consider targeted genetic testin.

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复合杂合CHRNG变异引起的非翼状胬肉埃斯科瓦尔综合征：基因型-表型的见解。

埃斯科瓦尔综合征是一种罕见的先天性疾病，其特征是挛缩，翼状胬肉和颅面异常。在这里，我们报告了一名携带复合杂合CHRNG变异的学龄女孩，NM_005199.5:c.[2T> c]；428 c > G p。[(Met1 ?)]; [(Pro143Arg)]。患儿表现为新生儿窒息，先天性肢体挛缩，低频听力下降，无翼状胬肉，认知正常。该病例强调了chrng相关疾病的表型变异性，提醒临床医生认识到没有翼状胬肉的轻微症状，并考虑进行靶向基因检测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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