ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.

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Tác giả: Rahşan Göçmen, Gozel Jumayeva, Beren Karaosmanoğlu, Pelin Özlem Şimsek-Kiper, Merve Soğukpınar, Gizem Ürel-Demir, Gülen Eda Utine

Ngôn ngữ: eng

Ký hiệu phân loại: 297.1248 Sources of Islam

Thông tin xuất bản: United States : The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 208259

We report a case of multiple suture craniosynostosis in a patient with hypochondroplasia. The patient presented with short stature marked by a relatively long trunk and short extremities. The clinical and radiological findings were suggestive of hypochondroplasia. Additionally, craniosynostosis was identified during the evaluation, which is an unusual finding in hypochondroplasia. To further investigate, exome sequencing was performed, revealing previously reported pathogenic heterozygous variants in
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