Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3

Hypochondroplasia (hcp) is an autosomal dominant skeletal dysplasia characterized by short extremities,short stature and lumbar lordosis,usually exhibiting a phenotype similar to but milder than achondroplasia (acp). fibroblast growth factor receptor 3 gene (fgfr3) mutations in the germline are well-known causes of skeletal syndromes. fgfr3 is a negative regulator of bone growth and all mutations in fgfr3are gain-of-function mutations that lead to skeletal dysplasias. we report a child who presented with short stature,a relatively long trunk,short legs,short arm span,radiographic evidence of hcp and mild mental retardation. genetic analysis revealed a heterozygous 1620c>g (asn540lys) mutation in fgfr3. to our knowledge,ours is the first case report of hcp with a heterozygous 1620c>g (asn540lys) mutation in turkey. ©journal of clinical research in pediatric endocrinology.