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

[achondroplasia]

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 (FGFR 3 ) mutations in the germline are well-known causes of skeletal syndromes . FGFR 3 is a negative regulator of bone growth and all mutations in FGFR 3 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 1620 C >G (Asn 540 L ys ) mutation in FGFR 3 . To our knowledge , ours is the first case report of HCP with a heterozygous 1620 C >G (Asn 540 L ys ) mutation in Turkey .

Diseases
Validation

Diseases presenting "growth factor receptor" symptom

achondroplasia

aromatase deficiency

cholangiocarcinoma

dedifferentiated liposarcoma

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

kallmann syndrome

lymphangioleiomyomatosis

oral submucous fibrosis

proteus syndrome

severe combined immunodeficiency

wiskott-aldrich syndrome

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