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12 Possible Causes for Mild Rib Sclerosis, Short Extremities, Sudden Death

  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] These complications include respiratory failure, apnea and sudden death.[symptoma.com] […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com]

  • Osteogenesis Imperfecta

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] If left untreated, causes of brainstem compression such as tonsillar herniation may lead to rapid neurologic deterioration, respiratory arrest, or sudden death ( 27 ).[doi.org] Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov]

  • Skeletal Dysplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] death in early childhood.[ncbi.nlm.nih.gov] The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with brachydactyly[ncbi.nlm.nih.gov]

  • Congenital Cortical Hyperostoses

    rib sclerosis, mild clavicular sclerosis, mild vertebral body sclerosis, metacarpal and metatarsal diaphyseal endosteal sclerosis.[iofbonehealth.org] sudden infant death syndrome and true accidents Prevalence 1.7 million cases reported, 833,000 of which were substantiated in United States in 1990 Results in 2,500-5,000[learningradiology.com] […] of top and bottom extremities (fig.), and also a clavicle and a mandible.[bigmed.info]

  • Thoracolaryngopelvic Dysplasia

    There is mild platyspondyly and generalised shortening of ribs and long bones.[bmcpediatr.biomedcentral.com] Thiene G, Nava A, Corrado D et al (1988) Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318:129–133 CrossRef PubMed Google Scholar 3.[link.springer.com] The major distinctive clinical features are long, narrow thorax, short extremities, short hand, progressive renal disease and hepatic fibrosis (4,5).[czytelniamedyczna.pl]

  • Osteosclerosis

    Pyknodysostosis is, on the other hand, characterized by a short stature, short extremities and an enlarged skull with misplaced teeth.[symptoma.com] rib sclerosis, mild clavicular sclerosis, mild vertebral body sclerosis, metacarpal and metatarsal diaphyseal endosteal sclerosis.[iofbonehealth.org] Heavy caffeine intake during pregnancy may increase the risk of SIDS (sudden infant death syndrome). Very high doses of caffeine have been linked with birth defects.[livingnaturally.com]

  • Autosomal Dominant Mental Retardation Type 21

    There are marked thickening and sclerosis of the skull and whole facial bones. The ribs are also thickened and sclerotic.[iofbonehealth.org] […] infant death(SIDS), encephalopathy, myopathy, cardiomyopathy.[intechopen.com] Human disorders attributable to a single dominant gene trait conspicuous signs achondroplasia dwarfism, large head, short extremities, short fingers and toes osteogenesis[britannica.com]

  • Craniodiaphyseal Dysplasia

    There are marked thickening and sclerosis of the skull and whole facial bones. The ribs are also thickened and sclerotic.[iofbonehealth.org] Increased intracranial pressure may result in sudden death from impaction of the brain stem in the foramen magnum.[encyclopedia.com] […] limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild[amp.pharm.mssm.edu]

  • Multiple Epiphyseal Dysplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Weese‐Mayer, 3′ UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: Haplotype analysis, American Journal of Medical Genetics Part A, 140A,[doi.org] Patients carrying mutations within the five-aspartates repeat (aa 469-473) in the seventh CLR were extremely short (below -6 SD).[ncbi.nlm.nih.gov]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    There are marked thickening and sclerosis of the skull and whole facial bones. The ribs are also thickened and sclerotic.[iofbonehealth.org] […] cause nonsyndromic deafness Jervell and Lange-Nielsen syndrome Congenital deafness Prolongation of QT wave on ultrasound Can be detected by EKG Syncopal episodes can cause sudden[en.wikibooks.org] […] affected Hemiplegia Difference in function of right and left extremities noticed after birth or 6-12 months Accounts for about 1/3 of children with cerebral palsy Affects[en.wikibooks.org]

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