A familial case of cleidocranial dysostosis presenting upper limb ischemia

A familial case of cleidocranial dysostosis presenting upper limb ischemia

CONTEXT: Upper limb ischemia is not as common as lower limb ischemia but may cause severe impairment or disability if it is misdiagnosed. CASE REPORT: A case of a woman with cleidocranial dysostosis resulting in upper right limb ischemia is presented. This uncommon condition is an exceedingly rare c...

Full description

Bibliographic Details
Main Authors:	Walter Campos Júnior, Roberta Murasaki Cardoso, Ronald Fidelis, Erasmo Simão da Silva, Rodrigo Ramos
Format:	Article
Language:	English
Published:	Associação Paulista de Medicina
Series:	São Paulo Medical Journal
Subjects:	Cleidocranial dysplasia Craniofacial dysostosis Dysostosis Mandibulofacial dysostosis
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802005000600009&lng=en&tlng=en

Similar Items

Mandibulofacial dysostosis
by: Hein Els, et al.
Published: (2012-02-01)

Cleidocranial dysplasia: Spectrum of clinical and radiological findings in seven cases
by: Shikha Gupta, et al.
Published: (2015-01-01)

Sindrome de Nager: Presentacion de caso
by: Elayne E Santana Hernández

Craniofacial dysostosis and a case report include surgical treatment of a Crouzon syndrome
by: Mahmood Hashemi H.
Published: (1999-07-01)

Investigation of uncharacterized spondylocostal dysostosis using whole exome sequencing
by: Doherty, Theodore Brian
Published: (2016)

Treacher Collins Syndrome: A Case Report and Review of Literature
by: Effat Khodadadi, et al.
Published: (2019-01-01)

Cementum analysis in cleidocranial dysostosis
by: Manjunath K, et al.
Published: (2008-01-01)

Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature
by: Raj Renju, et al.
Published: (2014-01-01)

Nager′s acrofacial dysostosis
by: Arpita Rai, et al.
Published: (2013-01-01)

Cleidocranial dysplasia: A case report
by: Hemalatha R, et al.
Published: (2008-03-01)

Novel Splice Site Pathogenic Variant of <em>EFTUD2</em> Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea
by: So Young Kim, et al.
Published: (2020-05-01)

Treacher Collins Syndrome
by: Alexander, et al.
Published: (2010-01-01)

Refinamento fenotípico da disostose mandibulofacial tipo Bauru
by: Priscila Padilha Moura
Published: (2013)

Caracterização morfológica de arco zigomático, maxila e mandíbula em indivíduos com disostose mandibulofacial
by: Priscila Padilha Moura
Published: (2016)

Refinamento fenotípico da disostose mandibulofacial tipo Bauru
by: Moura, Priscila Padilha
Published: (2013)

Caracterização morfológica de arco zigomático, maxila e mandíbula em indivíduos com disostose mandibulofacial
by: Moura, Priscila Padilha
Published: (2016)

Cleidocranial Dysplasia: Report of Two Cases
by: Avinash Kshar, et al.
Published: (2010-01-01)

Congenital Pseudoarthrosis of Clavicle: A Rare Diagnosis in Neonate
by: Tapas Bandyopadhyay, et al.
Published: (2017-04-01)

Spondylocostal dysostosis with severe ARDS and review of literature
by: Bal Mukund, et al.
Published: (2018-01-01)

Cleidocranial dysplasia: A report of two cases
by: D N Mehta, et al.
Published: (2011-01-01)

Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome
by: Alexandra Kolontai de Sousa Oliveira, et al.
Published: (2013-04-01)

Revisión bibliográfica sobre síndrome de Treacher Collins
by: Sandra Carolina Quiroga, et al.
Published: (2019-05-01)

Treacher Collins Syndrome; Anesthetic considerations and Molecular Findings
by: Shahram Sayyadi, et al.
Published: (2018-01-01)

Aspekt chirurgiczny opieki nad pacjentem z dysplazją obojczykowo-czaszkową – opis przypadku = Surgical aspect of patient care with cleidocranial dysplasia - case report
by: Aleksandra Szczepkowska, et al.
Published: (2016-05-01)

Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
by: Rimshah Shaukat, et al.
Published: (2016-07-01)

ORAL CAVITY CHANGES IN PATIENTS WITH DYSOSTOSIS CLEIDOCRANIALIS – CASE REPORT
by: Matjaž Rode, et al.
Published: (2004-11-01)

A linguagem na Síndrome de Treacher Collins: uma análise dialógica
by: Giselle Massi, et al.
Published: (2019-02-01)

Microssomia otomandibular: relato de caso Otomandibular microsomia: case report
by: Jozinete Vieira Pereira, et al.
Published: (2011-02-01)

Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review
by: Tomoaki Sasaki, MD, PhD, et al.
Published: (2021-03-01)

Crouzon syndrome in a ten-week-old infant: A case report
by: Sangeeta Gupta, et al.
Published: (2020-01-01)

Você conhece esta síndrome? Do you know this syndrome?
by: Maurício Pedreira Paixão, et al.
Published: (2007-06-01)

Oro-dental and Radiographic Findings of Weyers Acrofacial Dysostosis: Report of a Rare Case
by: Esra ÖZ, et al.
Published: (2020-01-01)

Imaging features of a rare case of scapuloiliac dysostosis (Kosenow syndrome) in an ambulatory child
by: John Joseph, et al.
Published: (2011-02-01)

Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies
by: Handan Hakyemez Toptan, et al.
Published: (2017-03-01)

Pyknodysostosis: Oral findings and differential diagnosis
by: Soares L, et al.
Published: (2008-05-01)

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system
by: Luciana Paula Maximino, et al.

A CASE OF TREACHER COLLINS SYNDROME
by: Ulusal S., et al.
Published: (2013-12-01)

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report
by: Arthur Jacob, et al.
Published: (2020-09-01)

Morphometric analysis of the craniofacial development in the CD-1 mouse embryo exposed to alcohol on gestational day eight /
by: Epstein, Debra Lee
Published: (1986)

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene
by: Udhaya H Kotecha, et al.
Published: (2014-01-01)