Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q

Am J Med Genet. 1996 Apr 24;62(4):372-5. doi: 10.1002/(SICI)1096-8628(19960424)62:4<372::AID-AJMG9>3.0.CO;2-T.

Abstract

Hunter-McAlpine syndrome is an autosomal dominant disorder consisting of variable manifestations including craniosynostosis, almond-shaped palpebral fissures, small mouth, mild acral-skeletal anomalies, short stature, and mental deficiency. We report on a 9-year-old boy with this phenotype with more severe skeletal abnormalities than previously described. Chromosomes showed del(17)(q23.1-->q24.2); the more severe phenotype may be explained by the deletion. The deletion also suggests the possibility that the gene for Hunter-McAlpine syndrome might map to that region.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Arm / abnormalities
  • Bone and Bones / abnormalities*
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 14*
  • Craniosynostoses / genetics*
  • Face / abnormalities
  • Female
  • Genes, Dominant
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Knee / abnormalities
  • Male
  • Phenotype