Molecularly proven hypochondroplasia with cloverleaf skull deformity: A novel association

Brad Angle*, Joseph H. Hersh, Katherine M. Christensen

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

We report on a case of cloverleaf skull deformity in a patient with hypochondroplasia, a disorder which has not been previously associated with this anomaly. Hypochondroplasia is a bone dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Cloverleaf skull is a trilobar skull deformity which is etiologically and genetically heterogeneous and occurs in association with a number of disorders which result from mutations in the fibroblast growth factor receptor genes. Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A change at nucleotide 1620 (C1620A) in the tyrosine kinase domain. The occurrence of a cloverleaf skull deformity appears to represent an example of variable expressivity in hypochondroplasia and suggests that additional factors other than a specific mutation can modify the phenotype in this disorder. In addition, identification of another FGFR mutation associated with cloverleaf skull further illustrates the genetic heterogeneity of this anomaly.

Original languageEnglish (US)
Pages (from-to)417-420
Number of pages4
JournalClinical Genetics
Volume54
Issue number5
DOIs
StatePublished - Nov 1998

Keywords

  • Cloverleaf skull
  • Fibroblast growth factor receptor
  • Hypochondroplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Molecularly proven hypochondroplasia with cloverleaf skull deformity: A novel association'. Together they form a unique fingerprint.

Cite this