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<p>Escobar syndrome is a rare congenital disorder characterized by contractures, pterygia and craniofacial anomalies. Here we report a school-age girl harboring compound-heterozygous <i>CHRNG</i> variants, NM_005199.5:c.[2T&gt;C];[428C&gt;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 <i>CHRNG</i>-related disease and alerts clinicians to recognize milder presentations that lack pterygia and to consider targeted genetic testin.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月14日

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

摘要

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.