Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a...

Full description

Bibliographic Details
Main Authors:	A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker
Format:	Article
Language:	English
Published:	Hindawi Limited 2017-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2017/9327169

Similar Items

Anaesthesia challenges in Freeman-Sheldon syndrome
by: Kiran Patel, et al.
Published: (2013-01-01)

Freeman-Sheldon syndrome: A dental perspective
by: Bijumon, et al.
Published: (2013-01-01)

Freeman-Sheldon Syndrome Associated with Hemophilia-A in a Newborn
by: Bilge Tanyeri Bayraktar, et al.
Published: (2016-12-01)

Freeman-Sheldon syndrome with cerebral venous thrombosis: Is it a coincidence?
by: Al-Sajee D, et al.
Published: (2010-01-01)

Síndrome de Freeman-Sheldon: Revisión bibliográfica
by: Manuel Estrada Sarmiento, et al.
Published: (2001-12-01)

Forma recessiva da síndrome de Freeman-Sheldon: relato de dois irmãos afetados Recessive type of Freeman-Sheldon syndrome: report of two affected siblings
by: Gerson Carakushansky, et al.
Published: (2001-10-01)

Síndrome Freeman- Sheldon. Presentación de un caso
by: Elayne Esther Santana Hernández
Published: (2021-03-01)

Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery
by: S. Viehmeyer, et al.
Published: (2018-01-01)

Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa
by: Marieke C.J. Dekker, et al.
Published: (2020-01-01)

Comisuroplastia en 1 paciente con el síndrome de Freeman-Sheldon
by: Manuel Estrada Sarmiento, et al.
Published: (2002-09-01)

Conduta anestésica em criança portadora da síndrome de Freeman-Sheldon
by: Bruno de Arruda Bravim, et al.

Anesthetic management of a patient with Freeman‐Sheldon syndrome undergoing oral surgery: A case report
by: Aiji Sato (Boku), et al.
Published: (2021-06-01)

Treatment results of teratologic arthrogryposis in a case of Freeman-Sheldon syndrome: A 25-year follow-up
by: Tsung-Mu Wu, et al.
Published: (2021-01-01)

Sheldon-Hall syndrome
by: Bamshad Michael J, et al.
Published: (2009-03-01)

Síndrome de Freeman Sheldon reporte de caso y revisión de la literatura.
by: Federico Reina-Ramírez, et al.
Published: (2017-06-01)

Síndroma de Freeman-Sheldon (S.F.S.) A Propósito de Um Caso Clínico *
by: Filipe Pinheiro Torres, et al.
Published: (2014-09-01)

Síndrome de Freeman Sheldon reporte de caso y revisión de la literatura.
by: Federico Reina-Ramírez, et al.
Published: (2017-06-01)

Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency
by: Jihyun Park, et al.
Published: (2020-04-01)

Freeman-Burian syndrome
by: Mikaela I. Poling, et al.
Published: (2019-01-01)

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
by: M. C. J. Dekker, et al.
Published: (2019-01-01)

Molecular evidence confirms occurrence of Rhipicephalus microplus Clade A in Kenya and sub-Saharan Africa
by: Esther G. Kanduma, et al.
Published: (2020-08-01)

Polanyi contre Freeman Polanyi against Freeman Polanyi contra Freeman
by: Nicolas Postel, et al.
Published: (2011-06-01)

Sheldon Wolin's Anarchism
by: Abram, Isaac
Published: (2013)

Response: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70)
by: Jihyun Park, et al.
Published: (2020-10-01)

Letter: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70)
by: Mikaela I. Poling, et al.
Published: (2020-10-01)

Laboratory-confirmed bloodstream infections in two large neonatal units in sub-Saharan Africa
by: Alemayehu Mekonnen Gezmu, et al.
Published: (2021-02-01)

HLA in sub-Saharan Africa
by: Allsopp, Catherine E. M.
Published: (1992)

William H. Sheldon and the culture of the somatotype
by: Gatlin, Stephen H.
Published: (2014)

Finance-growth nexus in sub-Saharan Africa
by: Celsa M.D.C. Machado, et al.
Published: (2021-02-01)

Prospects for malaria eradication in sub-Saharan Africa.
by: Ricardo Aguas, et al.
Published: (2008-03-01)

Paediatric emergencies in sub-Saharan Africa
by: Elizabeth M. Molyneux, et al.
Published: (2017-01-01)

Barriers to urban agriculture in Sub-Saharan Africa
by: Battersby, J., et al.
Published: (2021)

First Case of COVID-19-Associated Collapsing Glomerulopathy in Sub-Saharan Africa
by: Yannick M. Nlandu, et al.
Published: (2020-01-01)

Polanyi contre Freeman
by: Nicolas Postel, et al.
Published: (2011-06-01)

An interview with Donald Freeman
by: Karim Sadeghi
Published: (2019-10-01)

Freeman on Deduction/Induction
by: George Englebretsen
Published: (1984-01-01)

Lindsey A. Freeman
by: Lindsey A. Freeman
Published: (2021-05-01)

Malaria and urbanization in sub-Saharan Africa
by: Klinkenberg Eveline, et al.
Published: (2005-02-01)

mHealth in Sub-Saharan Africa
by: Thomas J. Betjeman, et al.
Published: (2013-01-01)

Fistula in sub-Saharan Africa
by: Karen Ballard, et al.
Published: (2015-08-01)

Cannot write session to /tmp/vufind_sessions/sess_jo9i0rmds4uj1853gggffj9pjq