Results 51 to 60 of about 4,542 (216)
Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome
European Journal of Neurology, Volume 33, Issue 9, September 2026.Clinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
David Muhmann +16 more
wiley +1 more source
Seasonal variation in the incidence of congenital talipes equinovarus
, 1991 A review of 77 neonates who presented with congenital talipes equinovarus over a seven-year period revealed an increase in the condition amongst babies born in the winter quarter.
RN Villar, GA Pryor, PM Scott, A Ronen
core +1 more source
Case Reports in Genetics, 2017 Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations.
Marie-Emmanuelle Naud +8 more
doaj +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Operative management of congenital talipes equinovarus deformity: experience and reason
, 2006 Background: Congenital talipes equinovarus is the most common congenital anomaly of the foot and ankle. The prevalence of this condition in our environment is not known due to dearth of medical literature on the subject.
Cosmas O Ihezie +7 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu +5 more
wiley +1 more source
Freeman-Sheldon syndrome: A dental perspective
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2013 Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. It is characterized by three basic abnormalities: microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers, and talipes ...
Bijumon, Dexton A Johns
doaj +1 more source
Trisomy 5p with bilateral congenital diaphragmatic hernia: a case report
Journal of Medical Case Reports, 2021 Background Bilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH. Case presentation A 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 ...
Noriyuki Nakamura +10 more
doaj +1 more source
Revista Médica Clínica Las Condes, 2021 Resumen: El pie bot es la deformidad congénita más frecuente de las extremidades inferiores del ser humano, afectando a 1 de cada 1000 recién nacidos vivos.
Estefanía Birrer +2 more
doaj +1 more source
Health Science Reports, Volume 9, Issue 7, July 2026.ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem +9 more
wiley +1 more source