Gamuts

Pyle dysplasia

Macrocephaly is a condition in which the human head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium. It may be pathological or benign, even a familial genetic characteristic. [Source: Wikipedia ]

Synonyms
Familial metaphyseal dysplasia
Metaphyseal dysplasia Pyle type
Pyle disease
OrphaNet reference
Pyle disease 
Is A
Metaphyseal dysplasia
May Cause
Arthropathy
Blue sclerae
Broad tubular bones
Choanal atresia
Choanal stenosis
Clavicular lesion in an infant or child
Congenital generalized osteoporosis
Congenital prognathism
Congenital vertebral abnormality
Congenital widespread osteosclerosis
Coxa valga
Craniotubular dysplasia
Defective dentition
Delayed dentition
Dense or thick skull
Dental defect
Diffusely dense skull base
Erlenmeyer flask deformity
Frontal bossing
Genu valgum
Multiple fractures
Multiple sclerotic foci in an infant or child
Osteosclerosis
Pathologic fracture
Platyspondyly
Sclerosing bone dysplasia
Thick clavicle
Thick ribs
Thick skull
Thick tubular hand bones
Twisted bones
Wide diametaphysis
Wide metaphysis
Widespread osteosclerosis
Widespread predominantly cortical osteosclerosis

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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