Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.
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.
Thomas
J A
JA
Department of Pediatrics, Children's Hospital, Denver, CO 80218, USA.
Manchester
D K
DK
Prescott
K E
KE
Milner
R
R
McGavran
L
L
Cohen
M M
MM
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