Results 91 to 100 of about 10,279 (206)

Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings

Clinical Case Reports
Key Clinical Message This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)‐associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal ...
Rahiya Rehman, Leslia Gonzalez, Kelsey Kolbe, Mohammed Khurram Faizan, William Brucker, Carolina Cerezo   +5 more
doaj   +1 more source

Junctional Epidermolysis Bullosa In-utero with Pyloric Atresia and Aplasia Cutis Congenita (Carmi Syndrome): A Case Report

Journal of Clinical and Diagnostic Research
Carmi Syndrome (CS) is an extremely rare autosomal recessive genetic disorder characterised by the co-existence of Junctional Epidermolysis Bullosa (JEB), Pyloric Atresia (PA), and Aplasia Cutis Congenita (ACC).
Samuel Jeyaraj Daniel, Balaji Ganesh, S Saranya, K Desingh   +3 more
doaj   +1 more source

Spinal Muscular Atrophy and Arthrogryposis

, 1997
Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
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A New Case of PITX1-Related Mandibular–Pelvic–Patellar (MPP) Syndrome

Clinics and Practice
Background: The PITX1 gene encodes a transcription factor that plays a crucial role in the development of the lower limbs, pelvis, and structures derived from the first branchial arch.
Evgeniya Melnik, Ekaterina Petrova, Tatiana Markova, Ksenya Zabudskaya, Elena Dadali   +4 more
doaj   +1 more source

COG6‐related prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature

Molecular Genetics & Genomic Medicine
Background CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated.
Sarah Guterman, Agnese Feresin, Lucile Boutaud, Clémence Jacquin, Stanislas Lyonnet, Jean‐Pierre Bernard, Claire Colmant, Philippe Roth, Nicolas Bourgon, Pierre Mace, Alice Thoreau, Yves Ville, Joana Bengoa, Zaina Ait Arkoub, Cécile Fourrage, Ferechté Encha‐Razavi, Bettina Bessières, Tania Attié‐Bitach   +17 more
doaj   +1 more source

Content validity of mobility measures in arthrogryposis multiplex congenita: engaging clinicians and people with lived experience

Frontiers in Rehabilitation Sciences
IntroductionLower-extremity impairment is prevalent in children with Arthrogryposis multiplex congenita (AMC), frequently leading to mobility limitations.
Ahlam Zidan, Ahlam Zidan, Laurie Snider, Jaclyn Sions, Kristen Donlevie, Alexa Cirillo, Verity Pacey, Noémi Dahan-Oliel, Noémi Dahan-Oliel   +8 more
doaj   +1 more source

Extending the spectrum of distal arthrogryposis.

, 1996
We describe a mother and son with multiple, non-progressive, congenital contractures, camptodactyly and absent flexion creases, expressionless face, blepharophimosis, microstomia, and short stature.
Scott, C I, Mackenzie, W G, Nicholson, L, Brockett, B C, Gripp, K W   +4 more
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Distal arthrogryposis : clinical and genetic findings

, 2012
AIM:Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric protein genes are involved in several types of distal arthrogryposis.
Tulinius, Már,, Oldfors, Anders,, Tajsharghi, Homa,, Kimber, Eva,, Kroksmark, Anna-Karin,   +4 more
core   +1 more source

Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy

, 2001
Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise.
Connolly AM, Di Giorgio A, Falsaperla R, Pavone P, Romeo G, Parano E   +5 more
core   +1 more source

Familial distal arthrogryposis and elevated serum IgE levels

, 1995
This case report describes a 3 year old girl with type I distal arthrogryposis, who was admitted twice for staphylococcal abscesses on the abdominal wall. Immunological evaluation was significant only for a moderately elevated serum IgE level (1230 IU/mL)

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