Results 41 to 50 of about 13,759 (208)
Frontiers in Genetics, 2023 Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li +19 more
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Scoliosis: Congenital, Neuromuscular, Syndromic, and Other Nonidiopathic Types, Understanding and managing the condition: A practical guide for familiesBy Tenner J. Guillaume, Walter H. Truong, Danielle Harding, Lily Collison, and Cheryl Tveit Gillette Children's Healthcare Series. St Paul, MN: Gillette Children's Healthcare Press, 2025, £45.00 (paperback), £10.00 (eBook), pp. 316, ISBN: 9781952181214 [PDF]
Dev Med Child NeurolDevelopmental Medicine &Child Neurology, Volume 68, Issue 2, Page 295-296, February 2026.
Snyder B.
europepmc +2 more sources
Heparan sulfate proteoglycan is an important attachment factor for cell entry of Akabane and Schmallenberg viruses [PDF]
, 2017 Akabane (AKAV) and Schmallenberg (SBV) viruses are Orthobunyavirus transmitted by arthropod vectors with a broad cellular tropism in vitro as well as in vivo Both AKAV and SBV cause arthrogryposis-hydranencephaly syndrome in ruminants.
Horimoto, Taisuke +6 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2017 Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity.
Mehmet Mutlu +5 more
doaj +1 more source
Children, 2023 Background: In children with motor disabilities, knee position during walking is often of concern in rehabilitation. This study aimed to investigate knee joint position sense. Thirty-seven children with Cerebral Palsy (CP), 21 with Myelomeningocele (MMC),
Åsa Bartonek +4 more
doaj +1 more source
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders [PDF]
, 2014 Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>
Benjamin Millar +7 more
core +2 more sources
Muscle &Nerve, EarlyView.ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell +8 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39
Jingwei Liu +3 more
doaj +1 more source
Congenital Knee Dislocation: A Case Report [PDF]
Clin Case RepABSTRACT Congenital knee dislocation (CKD) is a rare anomaly characterized by anterior and lateral displacement of the tibia in relation to the femur. Its incidence is 0.017 per 1000 live births, predominating in the female sex. Its etiology is unknown, but intrinsic (genetic) and extrinsic (mechanical) predisposing factors have been identified ...
Castro‐Lara M +5 more
europepmc +2 more sources