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8 Possible Causes for Short Trunk Not Evident at Birth

  • Spondyloepiphyseal Dysplasia Congenita

    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal[ncbi.nlm.nih.gov] Manifestations are present at birth. We ascertained a 4-generation family exhibiting the clinical manifestations of the disorder.[ncbi.nlm.nih.gov] Previous evidence suggesting defects of type II collagen associated with the SEDC phenotype led us to genotype the family for various COL2A1 gene-associated RFLPs.[ncbi.nlm.nih.gov]

  • Boomerang Dysplasia

    Individuals with spondylocarpotarsal syndrome have normal or near-normal birth length; however, progressive vertebral fusion results in poor growth of the trunk and short[ncbi.nlm.nih.gov] […] stature becomes evident postnatally.[ncbi.nlm.nih.gov]

  • Spondyloepiphyseal Dysplasia

    Disproportionate (short-trunked) short stature in a male, with or without back pain, is the common presenting feature.[nature.com] […] at birth, the usual age of presentation being after the first decade of life.[nature.com] […] is a well-defined, X-linked primary skeletal dysplasia that predominantly affects the spinal vertebral bodies and epiphyses during skeletal growth. 1 The condition is not evident[nature.com]

  • Spondylometaphyseal Dysplasia

    Symptoms & Signs Characteristic symptoms resemble those of spondyloepiphyseal dysplasia, congenital type which include: short stature evident from birth, short trunk & shortened[signssymptoms.org] Symptoms and Signs Characteristic symptoms resemble those of spondyloepiphyseal dysplasia, congenital type which include: short stature evident from birth, short trunk and[medigest.uk]

  • X-Linked Spondyloepimetaphyseal Dysplasia

    Disproportionate (short-trunked) short stature in a male, with or without back pain, is the common presenting feature.[nature.com] […] at birth, the usual age of presentation being after the first decade of life.[nature.com] […] is a well-defined, X-linked primary skeletal dysplasia that predominantly affects the spinal vertebral bodies and epiphyses during skeletal growth. 1 The condition is not evident[nature.com]

  • Spondyloepiphyseal Dysplasia Tarda

    Disproportionate (short-trunked) short stature in a male, with or without back pain, is the common presenting feature.[nature.com] […] at birth, the usual age of presentation being after the first decade of life.[nature.com] […] is a well-defined, X-linked primary skeletal dysplasia that predominantly affects the spinal vertebral bodies and epiphyses during skeletal growth. 1 The condition is not evident[nature.com]

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    Mesomelic dwarfism There is disproportionately short middle segment of extremities. (Mesomelic brachymelia) A . Severe forms may be evident at birth : 1 .[atulchoube.wordpress.com] Langer dwarfism : Relatively normal trunk , severe mesomelia with hypoplasia of ulna , fibula and mandible. Autosomal recessive inheritance. 2 .[atulchoube.wordpress.com] Later on proportions reverse with predominant shortening of trunk. Spine shows kyphoscoliosis and wedge deformity of lumber vertebrae. Inheritance autosomal recessive.[atulchoube.wordpress.com]

  • Tibial-Metacarpal Chondrodysplasia Punctata

    Mesomelic dwarfism There is disproportionately short middle segment of extremities. (Mesomelic brachymelia) A . Severe forms may be evident at birth : 1 .[atulchoube.wordpress.com] Langer dwarfism : Relatively normal trunk , severe mesomelia with hypoplasia of ulna , fibula and mandible. Autosomal recessive inheritance. 2 .[atulchoube.wordpress.com] Later on proportions reverse with predominant shortening of trunk. Spine shows kyphoscoliosis and wedge deformity of lumber vertebrae. Inheritance autosomal recessive.[atulchoube.wordpress.com]

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