Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Eur J Pediatr. 2024 Sep;183(9):3819-3829. doi: 10.1007/s00431-024-05643-y. Epub 2024 Jun 15.
Achondroplasia (ACH; MIM #100,800), caused by a heterozygous gain of function pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3; MIM*134,934), is the most prevalent and most readily identifiable cause of disproportionate short stature that is compatible with life. In addition, individuals with achondroplasia face significant medical, functional, and psychosocial challenges throughout their lives. This study assessed associated morbidities in patients with achondroplasia at a single center in Turkey. In this study, the clinical findings and associated morbidities of a group of patients with achondroplasia (n = 68) with clinical multidisciplinary follow-up at a single center between the years 2005-2023 are evaluated retrospectively. A total of 68 patients, 30 male (44.1%) and 38 female (55.9%), were evaluated. In the majority (84.2%) of patients, shortness of extremities was detected in the prenatal period at an average of 28.7 gestational weeks (± 3.6 SDS) with the aid of ultrasonography. More than half (n = 34/63, 54%) of the patients had a father of advanced paternal age (≥ 35 years). Among the complications, respiratory system manifestations, including obstructive sleep apnea (70%), ear-nose-throat manifestations including adenoid hypertrophy (56.6%) and otitis media (54.7%), neurological manifestations due to foramen magnum stenosis (53.2%), and skeletal manifestations including scoliosis (28.8%), are represented among the most common. The mortality rate was 7.3% (n = 5/68).Conclusion: This study not only represents the first retrospective analysis of the associated morbidities of patients with achondroplasia from a single center in Turkey but also will provide a reference point for future studies.
软骨发育不全症（ACH；MIM#100,800），是由成纤维细胞生长因子受体 3 基因（FGFR3；MIM*134,934）的杂合功能获得性变异引起的，是最常见且最容易识别的不成比例身材矮小的原因，这种情况可与生命共存。此外，患有软骨发育不全症的个体在其一生中都会面临重大的医疗、功能和社会心理挑战。本研究在土耳其的一家单一中心评估了软骨发育不全症患者的相关合并症。在这项研究中，回顾性评估了一组在单一中心接受临床多学科随访的软骨发育不全症患者（n=68）的临床发现和相关合并症，随访时间为 2005 年至 2023 年。共评估了 68 名患者，其中 30 名男性（44.1%）和 38 名女性（55.9%）。在大多数患者（84.2%）中，通过超声检查在平均 28.7 孕周（±3.6 SDS）的产前时期发现四肢短小。超过一半的患者（n=34/63，54%）的父亲为高龄父亲（≥35 岁）。在并发症中，呼吸系统表现，包括阻塞性睡眠呼吸暂停（70%）、耳鼻喉表现，包括腺样体肥大（56.6%）和中耳炎（54.7%）、由于颅底后窝狭窄引起的神经系统表现（53.2%）和骨骼表现，包括脊柱侧凸（28.8%）是最常见的。死亡率为 7.3%（n=5/68）。结论：本研究不仅代表了土耳其单一中心首次对软骨发育不全症患者相关合并症的回顾性分析，也为未来的研究提供了参考点。
