Create issue ticket

13 Possible Causes for Abnormal Spine X-Ray, Severely Disproportionate Short Stature, Vitamin D Deficiency with Rickets

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] Nutritional rickets, caused by a vitamin D deficiency. Cushing’s disease. Calcium deficiency/malabsorption. Nonaccidental injury.[gillettechildrens.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] MCDS is often mistaken for vitamin D deficiency rickets. It is important that proper diagnosis is made as to avoid unnecessary and potentially harmful vitamin D therapy.[rarediseases.org] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov]

  • Growth Failure

    Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] Bone disease caused by Vitamin D deficiency or rickets can lead to short stature. Treatment with Vitamin D and calcium supplements may improve both conditions.[rileychildrens.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] D-Dependent Rickets, Type 2A Vitamin D-Dependent Rickets, Type II, With Normal Vitamin D Receptor Vitamin D Hydroxylation-Deficient Rickets, Type 1A Vitamin D Hydroxylation-Deficient[familydiagnosis.com] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net]

  • Tibia Varum

    Too much abnormal motion in the cervical spine can cause pressure on the spinal cord. Treatment for this disorder requires regular clinical exams and X-rays.[shrinershospitalsforchildren.org] Thus, a Vitamin D deficiency causes rickets in growing children, especially in the first two years of life, but also in adolescence.[omicsonline.org] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com]

  • Skeletal Dysplasia

    After 32 years of living with a misdiagnosis of “rickets”, “vitamin D deficiency ” and an overwhelming “I don’t knows” , we were able to name the enemy![globalgenes.org] Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Schmid Metaphyseal Chondrodysplasia

    X-ray demonstrates metaphyseal widening, coxa vara, without associated cervical spine abnormalities or extra-skeletal manifestations.[endocrine-abstracts.org] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] The condition is often mistaken for vitamin D-deficient rickets . 0002970 Limb undergrowth limb shortening Short limb Short limbs [ more ] 0009826 Moderately short stature[rarediseases.info.nih.gov]

  • Familial Short Stature

    Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] Vitamin D deficiency hypophosphatemia Abnormal epiphyseal development, and bowing of the extremities Immunologic diseases HIV Severe immunodeficiency Anorexia Malabsorption[amboss.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] considered very rare Occurs as a result of mutation in the PCNT gene Adult height ranges from 20 inches to 40 inches Diagnosis of MOPDII After birth by: Historical records X-rays[littlepeopleuk.org] D-dependent rickets, type I; 264700; CYP27B1 Vitamin K-dependent clotting factors, combined deficiency of, 2; 607473; VKORC1 Vitamin K-dependent coagulation defect; 277450[howlingpixel.com] […] intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs.[genome.jp]

  • Dyggve-Melchior-Clausen Syndrome

    d dependent rickets type 1a VDR D2A vitamin d dependent rickets type 2a TTPA E ataxia with vitamin e deficiency SLC6A5 3 hyperekplexia 3 DSP - skin fragility woolly hair[dokumen.tips] Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov]