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349 Possible Causes for Shortened Long Bone

  • Osteoporosis

    Undermineralization, small thoracic cavity, shortened long bones, and bowing are typical features of autosomal recessive and severe hypophosphatasia.[web.archive.org] Bowed and shortened long bones have been observed on prenatal ultrasound in individuals who ultimately were shown to have benign perinatal, childhood (juvenile), and adult[web.archive.org] bones.[web.archive.org]

  • Hypophosphatasia

    After birth, infants with the disorder typically have apnea, seizures, and shortened long bones.[everydayhealth.com] At 34 weeks, however, a small chest and shortening of distal long bones came to attention.[ncbi.nlm.nih.gov] Apnea, seizures, craniosynostosis, and marked shortening of the long bones may be noted.[boneandspine.com]

  • Pseudohypoparathyroidism

    4th long bone of hand 0010044 Short 5th metacarpal Shortened 5th long bone of hand 0010047 Short fifth metatarsal Short 5th long bone of foot 0004704 Short neck Decreased[rarediseases.info.nih.gov] […] mineral density Low solidness and mass of the bones 0004349 Sensorineural hearing impairment 0000407 Short 3rd metacarpal Shortened 3rd long bone of hand 0010041 Spinal cord[rarediseases.info.nih.gov] long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short toe Short toes Stubby toes [ more ] 0001831 Showing of 72 Last updated: 12/1/2018 Making[rarediseases.info.nih.gov]

  • Russell-Silver Syndrome

    Fetal biometric parameters may show shortened fetal long bones.[radiopaedia.org]

  • Spondyloperipheral Dysplasia

    Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower[ghr.nlm.nih.gov] This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big)[ghr.nlm.nih.gov]

  • Langer Mesomelic Dysplasia

    Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia).[malacards.org] Clinically and radiologically the disease is characterized by severe shortening of long bones (limb's both proximal and median segments are affected), aplasia or severe hypoplasia[en.wikipedia.org] The homozygous state of the gene for Leri-Weill syndrome causes Langer mesomelic dysplasia which is characterized mainly by shortening of the long tubular bones, more markedly[ncbi.nlm.nih.gov]

  • Thanatophoric Dysplasia

    Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia.[ncbi.nlm.nih.gov] Postmortem radiographs revealed short ribs, flat vertebral bodies (platyspondyly), hypoplastic iliac bones, marked shortening of long bones including short and mild bowing[ncbi.nlm.nih.gov] RESULTS: Generalized shortening of long bones was observed in TD.[ncbi.nlm.nih.gov]

  • Hunermann Conradi Syndrome

    […] of the long bones, and cataracts.[jhu.pure.elsevier.com] Conradi-Hunermann syndrome is commonly associated with disproportionate and assymetric shortening of long bones, particularly those of the upper arms (humeri) and the thigh[healthetreatment.com] An ultrasound of the fetus at 29 weeks’ gestation revealed shortened long bones (arms and legs). Chromosome analysis was normal.[the-dermatologist.com]

  • Geleophysic Dysplasia 2

    Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.[orpha.net] Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[diseaseinfosearch.org] Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip[diseaseinfosearch.org]

  • Chondrodysplasia Punctata

    , brachydactyly, shortened long bones and epiphyseal stippling.[ncbi.nlm.nih.gov] Fetus 1: Presented with epiphyseal stippling involving the vertebrae, upper and lower limbs, asymmetric shortening of the long bones and flat facial profile.[ncbi.nlm.nih.gov] Fetal biometry showed shortened long bones.[ncbi.nlm.nih.gov]

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