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149 Possible Causes for Congenital Pectus Carinatum, Kyphosis

  • Mucopolysaccharidosis 4

    Children may develop: A pronounced curvature of the spine (i.e. scoliosis or kyphosis) Cloudy corneas of the eyes A heart murmur Inguinal hernia Liver enlargement Loss of[chop.edu] These included short stature, mental retardation, pectus carinatum, shortened fourth metacarpal, congenital dislocation of the hip, and unusual configuration of the lumbar[annals.org] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com]

  • Mucopolysaccharidosis 4A

    When kyphosis exceeds 45 degrees, progression is likely.[ncbi.nlm.nih.gov] These included short stature, mental retardation, pectus carinatum, shortened fourth metacarpal, congenital dislocation of the hip, and unusual configuration of the lumbar[annals.org] MPS-IVA commonly manifests in form of kyphosis or gibbus, scoliosis, pectus carinatum, genu valgum, gait disturbances and frequent falls, but the clinical presentation varies[symptoma.com]

  • Mucopolysaccharidosis

    […] and distal junctional kyphosis angles, and the apical vertebral wedge angle.[ncbi.nlm.nih.gov] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.nlm.nih.gov] Kyphosis due to retrolisthesis of the beaked lumbar vertebrae and acute sacrococcygeal angulations were other remarkable findings.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    […] also known as Maroteaux-Lamy syndrome is an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis[drugs.com] Musculoskeletal findings include dysostosis multiplex and thoracolumbar kyphosis, and the trunk appears short in length when compared to the length of the extremities.[emedicine.medscape.com] Kyphosis — An abnormal outward curvature of the spine, with a hump at the upper back.[medical-dictionary.thefreedictionary.com]

  • Homocystinuria

    Skeletal changes include genu valgum and pes cavus, followed by dolichostenomelia, pectus excavatum or carinatum and kyphosis, or scoliosis and osteoporosis.[orpha.net]

  • King Syndrome

    KS is a progressive condition and is characterized by worsening myopathy which may first appear as developmental delay in the motor domain, kyphosis, scoliosis, winged scapula[symptoma.com] Thoracic kyphosis , lumbar lordosis , and scoliosis often develop as the condition progresses. [2] Last updated: 10/2/2013 Where can I learn more about King-Denborough syndrome[rarediseases.info.nih.gov] […] development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis[orpha.net]

  • Osteogenesis Imperfecta

    Spinal manifestations include scoliosis, kyphosis, craniocervical junction abnormalities, and lumbosacral pathology.[ncbi.nlm.nih.gov] […] compression fractures codfish vertebrae platyspondyly chest pectus excavatum or carinatum pelvis acetabular protrusio coxa vara general severe osteoporosis deformed, gracile[radiopaedia.org] We paid particular attention to symptoms that could be associated with SDB in this population - scoliosis, kyphosis, vertebral arthrodesis, chest wall deformities, basilar[ncbi.nlm.nih.gov]

  • Spondylometaphyseal Dysplasia

    PATIENT SAMPLE: Patient with SMD-K having multiple vertebral anomalies and a thoracolumbar kyphosis.[ncbi.nlm.nih.gov] * Flat nose bridge * Wide nose bridge * Antevereted nostrils * Strabismus * Searching nystagmus * Knee contractures * Hip contractures * Hyperextensible fingers * Severe kyphosis[checkorphan.org] ; thoracic hypoplasia, which causes respiratory problems in the neonatal period and increases susceptibility to respiratory tract infection ( 4 ) ; scoliosis with dorsal kyphosis[ncbi.nlm.nih.gov]

  • Marfan Syndrome

    […] the eye, widening of the aorta as it exits the heart, heart valve abnormalities, knock-knee deformities, foot abnormalities such as bunions, chest wall deformities, and kyphosis[scoliosisassociates.com] Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine ( scoliosis or kyphosis ), stretch marks (striae) not related to weight[ghr.nlm.nih.gov] Kyphosis — An abnormal outward curvature of the spine, with a hump at the upper back.[medical-dictionary.thefreedictionary.com]

  • Mucopolysaccharidosis 6

    […] drome ( mah-rō-tō' lah'mē ), [MIM*253200] an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis[medical-dictionary.thefreedictionary.com]

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