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58 Possible Causes for Anterior Vertebral Height Increased, Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood

  • Wolcott-Rallison Syndrome

    Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org] Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent[ncbi.nlm.nih.gov] Diagnosis Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome. [1] The other symptoms include[wikiwand.com]

    Missing: Anterior Vertebral Height Increased
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    : short stature, rhizomelic Skeletal Spine: pear-shaped vertebral bodies increased anterior vertebral height[malacards.org] This was the case for one of our samples, in which a complete clinical definition allowed us to identify a pathogenic mutation in the EIF2AK3 gene, with a depth of coverage[journals.plos.org] anterior vertebral height 0004581 Lateral femoral bowing 0005090 Medial widening of clavicles 0006599 Pear-shaped vertebrae 0004566 Proximal femoral metaphyseal irregularity[rarediseases.info.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Osteoporosis

    Loss of vertebral body height and increased biconcavity characterize vertebral compression fractures.[merckmanuals.com] Thoracic vertebral fractures may cause anterior wedging of the bone. In long bones, although the cortices may be thin, the periosteal surface remains smooth.[merckmanuals.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Hypoaldosteronism

    A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid.[ncbi.nlm.nih.gov] A homozygous mutation in EIF2AK3 gene confirmed the clinical diagnosis of WRS. She was euthyroid on L -thyroxine therapy.[abstracts.eurospe.org]

    Missing: Anterior Vertebral Height Increased Onset of Renal Dysfunction in Early Childhood
  • Vertebral Compression Fracture

    Anterior wedging can produce a loss of vertebral body height greater than 50%. This has an increased possibility of being an unstable injury.[emedicine.medscape.com] Its objective is not to restore the height of the vertebral body; in static fractures the average increase in anterior body height is only 2.5 mm.[ncbi.nlm.nih.gov] There is 50% loss of vertebral body height, with a mild anterior wedge deformity.[clinical-mri.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • DEND Syndrome

    NEUROD1, IER3IP1, NEUROG3, NKX2-2 ), recessively inherited mutations in the EIF2AK3 gene, which cause Wolcott Rallison Syndrome, are the most common cause of PNDM in consanguineous[diapedia.org] NEUROD1, IER3IP1, MNX1, NEUROG3, NKX2-2, RFX6, GLIS3, PTF1A, PDX1 ), recessively inherited mutations in the EIF2AK3 gene, which cause Wolcott-Rallison syndrome, are the most[diapedia.org] Other rare causes of NDM include mutations in genes encoding transporters such as glucose transporter (GLUT)2 and thiamine transporter (see Table 1 ).[dovepress.com]

    Missing: Anterior Vertebral Height Increased Onset of Renal Dysfunction in Early Childhood
  • Lumbar Compression Fracture

    There is 50% loss of vertebral body height, with a mild anterior wedge deformity.[clinical-mri.com] Decreased signal intensity (SI) within this vertebral body on the T1-weighted scan, with increased SI on the T2-weighted scan is consistent with edema.[clinical-mri.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Double Outlet Right Ventricle

    Genetic examination showed classic mutations in the EIF2AK3 gene - eukaryotic translation initiation factor 2α kinase 3.[ncbi.nlm.nih.gov]

    Missing: Anterior Vertebral Height Increased Onset of Renal Dysfunction in Early Childhood
  • Transverse Process Fracture

    Radiographically the anterior border of the vertebral body has diminished height and increased concavity along with increased density due to bony impaction (see the image[emedicine.medscape.com] The anterior vertebral body bears most of the force, sustaining simple wedge compression anteriorly without any posterior disruption.[emedicine.medscape.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Cervical Spine Fracture

    Radiographically the anterior border of the vertebral body has diminished height and increased concavity along with increased density due to bony impaction (see the image[emedicine.medscape.com] Compression fractures appear as wedging and increased density of the anterior part of the vertebral body or loss of more than 3 mm body height anteriorly.[trauma.org] The anterior vertebral body bears most of the force, sustaining simple wedge compression anteriorly without any posterior disruption.[emedicine.medscape.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood