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53 Possible Causes for Kyphoscoliosis, Prenatal and Postnatal Short Stature

  • Osteoporosis

    […] teeth Clinical course, radiographs, laboratory findings Childhood (juvenile) AR or AD Short stature, skeletal deformity, bone pain/fractures Premature loss, deciduous teeth[web.archive.org] Multiple fractures of the spine can cause loss of height and significant spinal deformities and patients may develop marked abnormal curvature of the spine (kyphoscoliosis[yourhormones.info] […] course Prenatal ultrasound examination, clinical course Infantile 2 Mostly AR Craniosynostosis, Hypomineralization, rachitic ribs, hypercalciuria Premature loss, deciduous[web.archive.org]

  • Spondylometaphyseal Dysplasia

    DIAGNOSIS The diagnosis of a skeletal dysplasia should be considered in any patient who has disproportionately short stature or abnormal development of one or more bones.[musculoskeletalkey.com] Etiology Kozlowski type of spondylometaphyseal dysplasia results in severe kyphoscoliosis and is caused by mutations in the TRPV4 gene (locus 12q24.1).[orpha.net] Showing of 24 80%-99% of people have these symptoms Abnormality of the wrist Abnormalities of the wrists 0003019 Genu valgum Knock knees 0002857 Kyphoscoliosis 0002751 Metaphyseal[rarediseases.info.nih.gov]

  • Platyspondyly

    […] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[ncbi.nlm.nih.gov] Kniest syndrome (autosomal dominant; kyphoscoliosis, shortened tubular bones). Metatrophic dysplasia (severe kyphoscoliosis, narrow chest, metaphyseal flaring).[fetalultrasound.com] In addition, the older sister had strike precocious calcification of costal cartilage while her sister and brother had severe kyphoscoliosis.[read.qxmd.com]

  • 3M Syndrome Type 1

    In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism[scienceopen.com] Anterior wedging of thoracic vertebral bodies, irregular upper and lower endplates, thoracic kyphoscoliosis and spina bifida occulta may also be features of the 3-M syndrome[ncbi.nlm.nih.gov] Examine back annually for kyphoscoliosis.[ncbi.nlm.nih.gov]

  • Progressive Pseudorheumatoid Dysplasia

    […] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[mendelian.co] […] interphalangeal joints ; Enlarged metacarpophalangeal joints ; Enlargement of the proximal femoral epiphysis ; Flattened epiphysis ; Genu varum ; Joint stiffness ; Joint swelling ; Kyphoscoliosis[mousephenotype.org] […] proximal femoral epiphysis Enlarged end part of innermost thighbone 0003371 Genu varum Outward bow-leggedness Outward bowing at knees [ more ] 0002970 Joint swelling 0001386 Kyphoscoliosis[rarediseases.info.nih.gov]

  • Skeletal Dysplasia

    When presented with a patient that may have a skeletal dysplasia, the following must be performed: (a) Clinical evaluation: assessment of disproportionate short stature (prenatal[analesdepediatria.org] In addition, the older sister had strike precocious calcification of costal cartilage while her sister and brother had severe kyphoscoliosis.[ncbi.nlm.nih.gov] In addition, facial dysmorphism was absent, as were radial deviation of the second fingers and thoracolumbar kyphoscoliosis.[ncbi.nlm.nih.gov]

  • Familial Short Stature

    short stature.[ncbi.nlm.nih.gov] […] stature with shortening of the distal or proximal sections of upper or lower extremities is indicative of skeletal dysplasia; additional skeletal deformities may be present; kyphoscoliosis[online.epocrates.com] Other frequent signs are hyperacusis, thick voice, articular hyperlaxity, kyphoscoliosis and lordosis.[intechopen.com]

  • Kenny-Caffey Syndrome Type 1

    […] and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to[malacards.org] Pulmonary disease included severe restrictive disease due to kyphoscoliosis, mild obstructive disease, recurrent infections, and chronic congestion.[nejm.org] Orpha Number: 93324 Disease definition A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature , cortical thickening and medullary[rarediseases.info.nih.gov]

  • Coxa Valga

    […] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[ncbi.nlm.nih.gov] Progressive kyphoscoliosis is one of the most difficult aspects of long-term care.[ncbi.nlm.nih.gov] C4012146 • Disease or Syndrome Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal[ncbi.nlm.nih.gov]

  • Diastrophic Dysplasia

    There may be additional disorders that are characterized by growth delays before and after birth (prenatal and postnatal growth retardation); abnormally short arms and legs[peachynay.tripod.com] […] morphological features of the fetal long bones and extremities allowed an early diagnosis of this rare pathology that leads to a progressive physical handicap, due mainly to severe kyphoscoliosis[ncbi.nlm.nih.gov] […] nonlethal form of skeletal dysplasia with marked short stature, bilateral clubfoot, cleft palate, characteristic hand deformities, changes of the ear pinnae, progressive kyphoscoliosis[sybil-fp7.eu]

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