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Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3
Hüseyin Anıl Korkmaz1, Filiz Hazan, Ceyhun Dizdarer
1Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatric Endocrinology, İzmir, Turkey. drkorkmazanil@hotmail.com
Abstract:
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 FGFR3 are 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.
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