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344 Possible Causes for Congenital Pectus Carinatum

  • Marfan Syndrome

    Marfan syndrome is an autosomal dominant disorder of the connective tissue. It was first described by the French pediatrician Antoine Marfan in 1896. There are more than 25-30 different signs and symptoms in Marfan syndrome which can be of variable intensity and differ from patient to patient. Some people may[…][symptoma.com]

  • Osteogenesis Imperfecta

    […] compression fractures codfish vertebrae platyspondyly chest pectus excavatum or carinatum pelvis acetabular protrusio coxa vara general severe osteoporosis deformed, gracile[radiopaedia.org] Associations congenital cataracts Plain radiograph This is the preferred initial examination. head, neck and spine basilar invagination wormian bones kyphoscoliosis vertebral[radiopaedia.org]

  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 4A

    These included short stature, mental retardation, pectus carinatum, shortened fourth metacarpal, congenital dislocation of the hip, and unusual configuration of the lumbar[annals.org]

  • Mucopolysaccharidosis 4

    These included short stature, mental retardation, pectus carinatum, shortened fourth metacarpal, congenital dislocation of the hip, and unusual configuration of the lumbar[annals.org]

  • Mucopolysaccharidosis 2

    Summary Epidemiology Prevalence at birth in Europe is 1/166,000. It is an X-linked recessive disorder; very rare cases of female presentation have been reported. Clinical description MPS2 patients appear healthy at birth, with initial symptoms appearing between 18 months and 4 years of age. Macrocephaly develops[…][orpha.net]

  • Turner Syndrome

    Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen[…][en.wikipedia.org]

  • Mucopolysaccharidosis 6

    Maroteaux–Lamy syndrome is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB). [2] It is named after Pierre Maroteaux (1926–) and his mentor Maurice Emil Joseph Lamy (1895–1975), both French physicians. [3] [4] Symptoms [ edit ] Children with Maroteaux–Lamy syndrome usually have[…][en.wikipedia.org]

  • King Syndrome

    King syndrome, also known as King-Denborough syndrome, is a congenital disease that consists of myopathy, malignant hyperthermia, dysmorphic facial features and musculoskeletal deformities. It may be linked to a genetic etiology. Patients with King syndrome present in childhood, although the disease is seen from[…][symptoma.com]

  • Hereditary Hyperphosphatasia

    We provide a 20 year follow-up of a family with three siblings affected by hereditary hyperphosphatasia (HH). An iliac crest bone biopsy was performed on one of the siblings following double-tetracycline labeling, with results reported quantitatively in a standard histomorphometric format. Biochemical parameters of[…][ncbi.nlm.nih.gov]

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