Homozygous N540K hypochondroplasia--first report: radiological and clinical features.

[achondroplasia]

We describe a 16 -month -old male with N 540 K homozygous mutation in the FGFR 3 gene who showed a more severe phenotype than hypochondroplasia (HCH ). To our knowledge , a homozygous state for this mutation causing HCH has not been reported before . The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia /hypochondroplasia compound heterozygosity . This case represents a new expression of FGFR 3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH .

Diseases
Validation

Diseases presenting "mutation in the fgfr3 gene" symptom

achondroplasia

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