title: Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.
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.
authors.affiliation: Department of Pediatrics, Children's Hospital, Denver, CO 80218, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Thomas
authors.forename: D K
authors.initials: DK
authors.lastname: Manchester
authors.forename: K E
authors.initials: KE
authors.lastname: Prescott
authors.forename: R
authors.initials: R
authors.lastname: Milner
authors.forename: L
authors.initials: L
authors.lastname: McGavran
authors.forename: M M
authors.initials: MM
authors.lastname: Cohen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001132:Arm / Q000002:abnormalities; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D003398:Craniosynostoses / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007717:Knee / Q000002:abnormalities; D008297:Male; D010641:Phenotype