hyperphosphatasia

hyperphosphatasia

 [hi″per-fos″fah-ta´zhah]
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.

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.

hyperphosphatasia

/hy·per·phos·pha·ta·sia/ (-fos″fah-ta´zhah) hyperphosphatasemia.

hyperphosphatasia

Hyperostosis 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

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.
References in periodicals archive ?
Increased bone density with diaphyseal involvement Diaphyseal Craniotubular AD dysplasia, sclerosis, Camurati-Engelmann symmetrical Craniodiaphyseal Craniotubular AR, AD dysplasia Lenz Majewski Craniotubular SP dysplasia Endosteal Craniotubular hyperostosis sclerosis, symmetrical van Buchem type AR Worth type AD sclerosteosis AR with cerebellar AR hypoplasia Kenny Cafey Diaphyseal AD, AR dysplasia cortex Osteoectasia with Craniotubular AR hyperphosphatasia sclerosis, (juvenile Pagets) bowing Diaphyseal dysplasia Diaphyseal AR with anaemia cortex Diaphyseal medullary Diaphyseal AD stenosis with bone cortex malignancy (Hardcastle) 3.