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

✍ Scribed by Thomas, Janet A.; Manchester, David K.; Prescott, Karen E.; Milner, Richard; McGavran, Loris; Cohen, M. Michael

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 43 KB
• Volume: 62
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960424)62:4<372::aid-ajmg9>3.0.co;2-t

✦ Synopsis

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. W e 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.