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2,379 Possible Causes for Early-Onset Coronary Artery Stenosis, Skeletal Dysplasia

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[] In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation.[] Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth ceases.[]

  • Malnutrition

    Nutrients. 2018 Jun 19;10(6). pii: E786. doi: 10.3390/nu10060786. Author information 1 UMR-204 Nutripass, Institut de Recherche pour le Développement, IRD/UM/SupAgro, 34390 Montpellier, France. 2 UNICEF-Cambodia, Phnom Penh, Cambodia. 3 UMR-204 Nutripass, Institut de[…][]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[] Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[] NAGLU and CYP26B1 mutations were related to MPS IIIB and skeletal dysplasia, respectively.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Hydrocephalus

    Hydrocephalus is also a frequent component of skeletal dysplasias and craniosynostosis syndromes in which there is a disparity between brain size and skull size.[] Developmental hydrocephalus includes also cases due to crowding of the posterior fossa (Chiari I, skeletal dysplasias), and other poorly cases of hydrocephalus without an[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Growth Hormone Deficiency

    dysplasia.[] . • Skeletal dysplasia • Nonnan syndrome 31.[] dysplasias, familial short stature, Russell-Silver Syndrome, Turner Syndrome, etc.).[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Osteogenesis Imperfecta

    When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[] Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol 2014;6:808-25. [ PUBMED ] 20. Trejo P, Rauch F.[] Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Schwartz-Jampel Syndrome

    dysplasia .[] dysplasia Burton syndrome myotonic chondrodystrophy SJS SCHWARTZ-JAMPEL SYNDROME, TYPE 1 Chondrodystrophic Myotonia Dysostosis enchondralis metaepiphysaria, Catel-Hempel[] We suggest that the relaxation of myotonia due to early diagnosis and treatment may prevent development of the classic skeletal dysplasia of Schwartz-Jampel syndrome.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Cleidocranial Dysplasia

    Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[] Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia.[] Cleidocranial dysplasias is an autosomal dominant disorder that presents with skeletal dysplasia.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pituitary Dwarfism

    […] form of Skeletal Dysplasia.[] The most common types of dwarfism, known as skeletal dysplasias, are genetic.[] What is Skeletal Dysplasia?[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pseudopseudohypoparathyroidism

    Although synovial manifestations of other rare skeletal dysplasias have been reported, the association of synovial osteochondromatosis and PPH has not been described. 28,29[] Dysplasias NGS panel.[] […] or congenital skeletal malformations 9 ; dyschondroplasia with soft tissue calcification and ossification, and normal parathyroid functions 10 ; dystrophie d’Albright Type[]

    Missing: Early-Onset Coronary Artery Stenosis

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