Results 91 to 100 of about 11,759 (256)

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia

open access: yesClinical Genetics, Volume 107, Issue 3, Page 271-277, March 2025.
We present a cross‐sectional detailed radiographic evaluation of the skeletal phenotype in 33 patients, aged 4.5–48 years, with Mulibrey nanism (MUL). This study confirms MUL as a skeletal dysplasia with prenatal‐onset growth failure, slender bones, vertebral changes, and a high prevalence of fibrous dysplasia and fractures.
Susann Karlberg   +3 more
wiley   +1 more source

Monostotic fibrous dysplasia of the spine: report of a case involving a cervical vertebra [PDF]

open access: yes, 2018
Monostotic fibrous dysplasia of the spine is a rare entity. Only 26 cases, of which 11 were located in the cervical spine, are to be found in the literature.
Heini, P.   +3 more
core  

Fibrous Dysplasia of the Orbit in a 5-Year-Old Girl [PDF]

open access: yes, 2017
Purpose: The aim of the present study was to describe a case oforbital fibrous dysplasia in a very young child.Case report: A 5-year-old girl presented with unilateral, painless,slowly progressive proptosis of the left eye and inferotemporalglobe ...
Sadeghi Tari, Ali, Torabi, Hamidreza
core   +2 more sources

RANK‐L inhibitor as a promising agent for refractory extensive craniofacial fibrous dysplasia: A case report

open access: yesHead &Neck, Volume 46, Issue 1, Page E1-E5, January 2024.
Abstract Background McCune‐Albright syndrome is a rare disorder characterized by polyostotic fibrous dysplasia (FD), café‐au‐lait skin pigmentation, and endocrine dysfunction. Extensive FD in the craniofacial region can present significant challenges in terms of disease control and carries a high risk of permanent visual impairment.
Moataz D. Abouammo   +5 more
wiley   +1 more source

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review

open access: yesMolecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.
This study revealed three patients with familial gigantiform cementoma (FGC) carried the heterozygous mutation c.1067G>A (p.Cys356Tyr) in the ANO5 gene which was not found in 8 juvenile ossifying fibromas, 5 polyostotic fibrous dysplasia and 5 florid cemento‐osseous dysplasia.
Zheng Zhou   +5 more
wiley   +1 more source

The nature of fibrous dysplasia [PDF]

open access: yes, 2009
Fibrous dysplasia has been regarded as a developmental skeletal disorder characterized by replacement of normal bone with benign cellular fibrous connective tissue.
A Corsi   +24 more
core   +3 more sources

Orthodontic treatment of patient with maxillofacial fibrous dysplasia : a case report [PDF]

open access: yes, 2019
Fibrous dysplasia is a benign skeletal disorder in which the normal bone and marrow are replaced by fibrous tissue and haphazardly distributed woven bone.
Huja, Sarandeep S.   +3 more
core   +1 more source

Fibrous Dysplasia: Clinicopathologic Presentation of 36 Cases

open access: yesTürk Patoloji Dergisi, 2018
Objective: Fibrous dysplasia is a slowly progressing bone lesion resulting from displacement of the normal medullary bone with abnormal fibroosseous tissue.
Mine ÖZŞEN   +3 more
doaj   +1 more source

Pathological fracture in fibrous dysplasia: a case report [PDF]

open access: yes, 2022
Fibrous dysplasia (FD) is described as a growth disorder characterized by the progressive replacement of normal bone elements by fibrous-osseus tissue. Bones affected by FD is presented with bone weakening and prone to pathological fracture.
Supriyadi, Bambang
core   +2 more sources

A rare case of McCune Albright syndrome [PDF]

open access: yes, 2019
McCune Albright syndrome is characterized by the clinical triad of precocious puberty, polyostotic fibrous dysplasia, and café-au-lait pigmentation. Authors reported the case of a 6 years old girl presenting with vaginal bleeding.
Banga, Siftie-Kaur, Patil, Pooja
core   +2 more sources

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