Craniometaphyseal dysplasia congenita—Pyle's disease in a young child

Girdwood, T. G.; Gibson, William J.; Mackintosh, T. F.

doi:10.1259/0007-1285-42-496-299

Cited by 7 publications

(1 citation statement)

References 8 publications

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“…The mode of inheritance is both autosomal dominant and autosomal recessive, the latter being more severe in degree. The autosomal recessive type is characterised by marked long bone changes, with little or no skull involvement (Pyle's disease), while the autosomal dominant type (CMD) shows marked skull changes (16).…”

Section: Discussionmentioning

confidence: 99%

Cranio‐metaphyseal dysplasia

Gupta

Chaudhary

et al. 1993

Australasian Radiology

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Cranio-metaphyseal dysplasia in two brothers, aged fourteen and twelve, is reported. Both brothers presented with deafness, repeated episodes of cold and cough and mouth breathing. Striking craniofacial configuration consisted of hypertelorism, prominent glabella and zygomatic arches, mandibular prognathism and overgrowth of middle third of face. Both patients had genu valgum deformity. Low intelligence and poor scholastic performance present in both brothers were attributed to deafness. Radiographic features consisted of obtuse mandibular angle, defective dentition, sclerotic frontal sinuses, sclerotic mastoids and temporal bones. Splaying of metaphyses of long bones was associated with mild sclerosis. Mild degree of widening of ribs was also present. One brother also had hallux valgus deformity. The radiographic and clinical differentiation of cranio-metaphyseal dysplasia and metaphyseal dysplasia (Pyle's disease) is highlighted.

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Section: Discussionmentioning

confidence: 99%

Cranio‐metaphyseal dysplasia

Gupta

Chaudhary

et al. 1993

Australasian Radiology

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Cranial Metaphyseal Dysplasia

Saper¹

1974

Arch Neurol

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A 17-year-old girl was examined because of recurrent bilateral facial palsy.Skull roentgenograms demonstrated cranial metaphyseal dysplasia. This unusual hereditary disorder, which is due to defective bone remodeling and absorption, is associated with many neurological disabilities, including multiple cranial neuropathies, hemiplegia, and medullary compression. Cranial metaphyseal dysplasia has been incorrectly diagnosed as osteopetrosis. Although similarities between these two disorders exist, differences in the clinical course, roentgenographic findings, and pathophysiology distinguish the two entities.

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Congenital and Developmental Abnormalities of the Knee

Johnson

Davies

2003

Imaging of the Knee

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Craniometaphyseal dysplasia congenita—Pyle's disease in a young child

Cited by 7 publications

References 8 publications

Cranio‐metaphyseal dysplasia

Cranio‐metaphyseal dysplasia

Cranial Metaphyseal Dysplasia

Congenital and Developmental Abnormalities of the Knee

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