Bronchiectasis In Metaphyseal Acroscyphodysplasia With Cone-Shaped Epiphyses (Bellini Disease): A Five Years Follow Up

Maria Cristina Maggio, Anna Costa, Annalisa Ferlisi, Francesca Ficili, Francesca Serraino

Risultato della ricerca: Article

Abstract

We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up.This is the first case reported in literature of a patient with this extremely rare metaphyseal dysplasia, the Bellini disease, associated with bronchiectasis.
Lingua originaleEnglish
Numero di pagine0
RivistaTHE INTERNET JOURNAL OF PEDIATRICS AND NEONATOLOGY
Volume16
Stato di pubblicazionePublished - 2013

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Epiphyses
Bronchiectasis
Foot
Hand
Brachydactyly
Malocclusion
Thigh
Respiratory Tract Infections
Lower Extremity
Knee
Tooth
Bone and Bones
Metaphyseal acroscyphodysplasia
Pyle disease

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Bronchiectasis In Metaphyseal Acroscyphodysplasia With Cone-Shaped Epiphyses (Bellini Disease): A Five Years Follow Up. / Maggio, Maria Cristina; Costa, Anna; Ferlisi, Annalisa; Ficili, Francesca; Serraino, Francesca.

In: THE INTERNET JOURNAL OF PEDIATRICS AND NEONATOLOGY, Vol. 16, 2013.

Risultato della ricerca: Article

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abstract = "We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up.This is the first case reported in literature of a patient with this extremely rare metaphyseal dysplasia, the Bellini disease, associated with bronchiectasis.",
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AU - Ficili, Francesca

AU - Serraino, Francesca

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AB - We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up.This is the first case reported in literature of a patient with this extremely rare metaphyseal dysplasia, the Bellini disease, associated with bronchiectasis.

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