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Case Report
Online Published: 21 Jan 2026
 


A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia

Zuhair Rahbeeni, Hamdan Al-shahrani, Mohamed Noon, Sarar Mohamed.


Abstract
Homozygous achondroplasia, due to biallelic pathogenic FGFR3 variants, is the homozygous lethal expression of an autosomal dominant skeletal dysplasia and is clinically distinct from the classical heterozygous form. We describe a male infant born to two achondroplastic heterozygous parents with severe rhizomelic shortening and radiographic features typical of homozygous achondroplasia. Molecular analysis revealed a homozygous c.1138G>A (p.Gly380Arg) variant in FGFR3. The infant developed progressive respiratory compromise and died at 63 days of age due to pulmonary hypoplasia-related respiratory failure.

Key words: Homozygous achondroplasia, pulmonary hypoplasia, rhizomelia, Fibroblast Growth Factor Receptor 3, skeletal dysplasia.


 
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How to Cite this Article
Pubmed Style

Rahbeeni Z, Al-shahrani H, Noon M, Mohamed S. A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia. Sudan J Paed. 2025; 25(2): 148-151. doi:10.24911/SJP.106-1759127221

Web Style

Rahbeeni Z, Al-shahrani H, Noon M, Mohamed S. A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia. https://sudanjp.com//?mno=287139 [Access: February 05, 2026]. doi:10.24911/SJP.106-1759127221

AMA (American Medical Association) Style

Rahbeeni Z, Al-shahrani H, Noon M, Mohamed S. A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia. Sudan J Paed. 2025; 25(2): 148-151. doi:10.24911/SJP.106-1759127221


Vancouver/ICMJE Style

Rahbeeni Z, Al-shahrani H, Noon M, Mohamed S. A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia. Sudan J Paed. (2025), [cited February 05, 2026]; 25(2): 148-151. doi:10.24911/SJP.106-1759127221


Harvard Style

Rahbeeni, Z., Al-shahrani, . H., Noon, . M. & Mohamed, . S. (2025) A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia. Sudan J Paed, 25 (2), 148-151. doi:10.24911/SJP.106-1759127221


Turabian Style

Rahbeeni, Zuhair, Hamdan Al-shahrani, Mohamed Noon, and Sarar Mohamed. 2025. A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia. Sudanese Journal of Paediatrics, 25 (2), 148-151. doi:10.24911/SJP.106-1759127221


Chicago Style

Rahbeeni, Zuhair, Hamdan Al-shahrani, Mohamed Noon, and Sarar Mohamed. "A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia." Sudanese Journal of Paediatrics 25 (2025), 148-151. doi:10.24911/SJP.106-1759127221


MLA (The Modern Language Association) Style

Rahbeeni, Zuhair, Hamdan Al-shahrani, Mohamed Noon, and Sarar Mohamed. "A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia." Sudanese Journal of Paediatrics 25.2 (2025), 148-151. Print. doi:10.24911/SJP.106-1759127221


APA (American Psychological Association) Style

Rahbeeni, Z., Al-shahrani, . H., Noon, . M. & Mohamed, . S. (2025) A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia. Sudanese Journal of Paediatrics, 25 (2), 148-151. doi:10.24911/SJP.106-1759127221




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