Combined Mutations of LTBP3 and COL5A1A in Geleophysic Dysplasia

Geleophysic dysplasias (GDs) are uncommon genetically predisposed abnormalities that interfere with skeletal growth and formation. Several GD subtypes have different clinical manifestations. The current report presents the case of a 7‐year‐old Syrian boy with a medical history of repeated bone fractures and noticeable facial characteristics. Initial laboratory examinations revealed normal results, except for low serum phosphate and ferritin levels. The X‐ray images showed no abnormalities. The DEXA scan was like that of a 92.1‐year‐old. Karyotype analysis revealed 46 XY. Genetic testing results showed compound heterozygous mutations in the Latent Transforming Growth Factor Beta Binding Protein 3 (LTBP3) gene and a heterozygous mutation in collagen Type V Alpha 1 (COL5A1), consistent with the patient’s clinical manifestations. The following fractures were treated using a combination of nonsurgical casting and surgical intervention. The LTBP3 gene mutations are associated with GD. However, the COL5A1 gene mutations are assumed to be associated with Ehlers–Danlos syndrome Type 1. However, the patient did not exhibit the typical features of joint hypermobility or skin abnormalities, suggesting that the COL5A1 mutation may have a minor effect on his condition. In conclusion, this case highlights the importance of genetic testing in children with repeated fractures and abnormal physical traits. Although the COL5A1 mutation may have a minor influence, further investigation is needed to understand its long‐term effects. This instance also emphasizes the range of physical characteristics that can occur with GD and Marfan syndrome, even when caused by the same genetic mutations.