a hereditary condition transmitted as an autosomal recessive trait, marked by abnormally high alkaline phosphatase levels in the serum and by macrocranium, short neck and thorax, lateral bowing of the femurs, and anterior bowing of the tibias.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
hy·per·phos·pha·ta·si·a(hī'pĕr-fos'fă-tā'zē-ă), [MIM*239000 and MIM*239300]
A skeletal dysplasia characterized by dwarfism, macrocranium, expansion of the diaphyses of tubular bones with multiple fractures, patchy osteosclerosis, leg bowing, and occasionally mental retardation; serum alkaline phosphatase level is elevated; autosomal recessive inheritance.
Farlex Partner Medical Dictionary © Farlex 2012
hyperphosphatasiaHyperostosis corticalis deformans juvenilis, juvenile Paget's disease An AR condition characterized by enlarged and defective bones, ↑ bone density and Fx Clinical Dwarfism, macrocephaly, blue sclerae Lab ↑ Alk phos, normal Ca2+, PO4
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
hy·per·phos·pha·ta·si·a(hī'pĕr-fos'fă-tā'zē-ă) [MIM*239000 and 239300]
A skeletal dysplasia characterized by dwarfism, macrocranium, expansion of the diaphyses of tubular bones with multiple fractures, and other findings.
Medical Dictionary for the Dental Professions © Farlex 2012