Results 41 to 50 of about 240,041 (144)
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
Diagnostics, 2022 Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations.
Ali Al Kaissi +11 more
doaj +1 more source
BMC Medical Genomics, 2022 Background Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes.
Jing Chen +7 more
doaj +1 more source
Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect
Case Reports in Medicine, 2011 We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD), and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS) and ...
L. Rozendaal +3 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 8, Issue 10, October 2020., 2020 We report on a pediatric patient with skin fragility suggestive for classical Ehlers–Danlos syndrome (cEDS) but without marked skin hyperextensibility, who came to our attention with unconvincing results of an external next generation sequencing (NGS) panel that included all cEDS‐associated genes.
Marco Ritelli +3 more
wiley +1 more source
Clinical Genetics, Volume 97, Issue 2, Page 235-245, February 2020., 2020 Abstract Genome‐scale high‐throughput sequencing enables the detection of unprecedented numbers of sequence variants. Variant filtering and interpretation are facilitated by mutation databases, in silico tools, and population‐based reference datasets such as ExAC/gnomAD, while variants are classified using the ACMG/AMP guidelines.
Arash Najafi +5 more
wiley +1 more source
Journal of Biomedicine and Translational Research, 2018 Marfan syndrome is named after the French pediatrician Antoine Bernard-Jean Marfan who described in 1896 a girl with arachnodactyly and long limbs1. The patient also had congenital contractures of the elbows and would not fulfill the current criteria for
Gerard Pals
doaj +1 more source
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly [PDF]
Ultrasound in Obstetrics & Gynecology, 2002 AbstractCongenital contractural arachnodactyly (CCA) or Beals–Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin‐2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations.Our
Kölble N +5 more
openaire +3 more sources
Familial chilblain and late contractural arachnodactyly: A novel association?
, 2009 We report an Italian family suffering from chilblain. Seven members over three generations affected, two of them presenting association with late contractural arachnodactyly.
PIGA, MATTEO +4 more
core +1 more source
, 2022 Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-
Zhihong Wu (224503) +20 more
core +1 more source
, 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
Jie-Yuan Jin (8888750) +8 more
core +1 more source