Kolkıran Abdulkerim, Daşar Tuğba, Kablan Ahmet, Şimşek-Kiper Pelin Özlem
Department of Pediatric Genetics, Etlik City Hospital, Ankara, Turkey.
Department of Pediatric Genetics, Bilkent City Hospital, Ankara, Turkey.
Mol Syndromol. 2025 May;16(3):247-251. doi: 10.1159/000541135. Epub 2024 Sep 19.
Kniest dysplasia is a rare skeletal disorder, characterized by mild dysmorphic features, cleft palate, short stature, short limbs, prominent joints, restricted joint mobility, hearing impairment, and ocular manifestations such as high-degree myopia, retinal detachment, and cataract. Typical radiological findings include platyspondyly, coronal clefts, and dumbbell-shaped long tubular bones.
Herein, we report on an 8-month-old boy who was referred to the pediatric genetic department due to narrow thorax and short extremities. He had mild dysmorphic features, cleft palate, narrow thorax, short extremities, and short stature. On radiographies, platyspondyly, hemivertebra, and dumbbell-shaped long tubular bones were detected. Clinical and radiological findings were consistent with Kniest dysplasia. Clinical exome sequencing was performed and revealed a heterozygous, pathogenic c.905C>T (p.Ala302Val) variant in the gene, confirming the initial clinical diagnosis.
Kniest dysplasia is a very rare skeletal dysplasia, and an accurate clinical diagnosis is important to provide the best possible follow-up.
克尼斯特发育不全是一种罕见的骨骼疾病，其特征为轻度畸形特征、腭裂、身材矮小、四肢短小、关节突出、关节活动受限、听力障碍以及眼部表现，如高度近视、视网膜脱离和白内障。典型的放射学表现包括扁平椎、冠状裂和哑铃状长管状骨。
在此，我们报告一名8个月大的男孩，因胸廓狭窄和四肢短小被转诊至儿科遗传学科室。他有轻度畸形特征、腭裂、胸廓狭窄、四肢短小和身材矮小。在X线片上，检测到扁平椎、半椎体和哑铃状长管状骨。临床和放射学表现与克尼斯特发育不全一致。进行了临床外显子组测序，结果显示该基因存在一个杂合的致病性c.905C>T（p.Ala302Val）变异，证实了最初的临床诊断。
克尼斯特发育不全是一种非常罕见的骨骼发育不良，准确的临床诊断对于提供最佳的后续治疗至关重要。
