Results 71 to 80 of about 4,694 (215)
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
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
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
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
Congenital talipes equinovarus: II. A staged method of surgical management
, 1987 A staged method of surgical management for congenital talipes equinovarus is described. The hindfoot was corrected and rebalanced early in 125 feet, and in 66 feet a second-stage medial forefoot correction was performed in the second, third or fourth ...
RW Porter
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
Clinical outcome of congenital talipes equinovarus diagnosed antenatally by ultrasound
, 2000 Congenital talipes equinovarus is a common anomaly which can now be diagnosed prenatally on a routine ultrasound scan at 20 weeks of gestation. Prenatal counselling is increasingly offered to parents with affected fetuses, but it is difficult to counsel
R. L. Tillett +3 more
core +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
Assessment of talipes equinovarus treated by Ponseti technique:Three-year preliminary report
, 2012 The Ponseti method has become increasingly popular in the treatment of congenital talipes equinovarus (CTEV). Current methods of assessment focus on clinical, functional and radiological outcomes which are subjective and often difficult to repeat ...
Wang, W; id_orcid +5 more
core +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source