Displasia craniometafisária: relato de caso

Figueirêdo, Sizenildo da Silva; Ribeiro, Luiza Helena Vilela; Nóbrega, Bruno Barcelos da; Teixeira, Kim-Ir-Sen Santos

doi:10.1590/s0100-39842002000400014

Cited by 2 publications

(3 citation statements)

References 17 publications

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“…Bone changes are most apparent in the proximal tibia and distal femur, locations where the Erlenmeyer flask deformity is highlighted [1], [8]. Radiographic spinal examination may reveal moderate platyspondyly and a biconcave lens shape of the vertebral bodies [5].…”

Section: Discussionmentioning

confidence: 99%

“…The autosomal recessive form of this craniotubular dysplasia has several differing characteristics from Pyle's disease, primarily by presenting more aggressively, with marked sclerosis and craniofacial hyperostosis, associated with symptoms such as progressive nasal obstruction, facial distortion, and especially multiple foraminal stenoses, leading to compression of the cranial nerves and consequent progressive mixed hearing loss, visual changes, and facial paralysis [8]. In 1970, Gorlin established imaging criteria to aid in the differential diagnosis with craniometaphyseal dysplasia, including more pronounced metaphyseal widening in Pyle's disease, as well as costoclavicular and ischiopubic rami involvement [7].…”

Section: Discussionmentioning

confidence: 99%

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Pyle disease (metaphyseal dysplasia) presenting in two adult sisters

Soares

Almeida

Barreto

et al. 2016

Radiology Case Reports

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Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base. The clinicoradiological dissociation, along with the characteristic imaging findings, was consistent with the diagnosis of Pyle's disease. Intervention is not required in most cases, but orthopedic treatment may be required for genu valgum or fractures. Therefore, these cases emphasize the pivotal role conventional radiography plays in the correct diagnosis of this rare entity, allowing for appropriate genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Pyle disease (metaphyseal dysplasia) presenting in two adult sisters

Soares

Almeida

Barreto

et al. 2016

Radiology Case Reports

View full text Add to dashboard Cite

show abstract

“…However, the definitive diagnosis is confirmed with genetic analysis [7][8][9]. Craniometaphyseal dysplasia is an extremely rare genetic disorder characterized by dysplastic, sclerotic, and hyperostotic involvement of cranial and tubular bones.…”

Section: Discussionmentioning

confidence: 99%