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103 Possible Causes for Metaphyseal Spurring, Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

  • Achondrogenesis Type 1B

    spurring of long bones ulna and fibula are not ossified in most cases short bones of hands and feet are very poorly ossified and sometimes there is bipartite ossification[radiopaedia.org] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] Metaphyseal spurring gives the appearance of a "thorn apple" or (for hematologic experts) "acanthocyte."[ncbi.nlm.nih.gov]

  • Achondrogenesis

    Other anomalies include severe micromelia with bowed bones, bony spurs projecting from concave metaphyses, barrel-shaped thorax, small ilia, and short trunk with prominent[rrnursingschool.biz] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] A nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), showed defects that[symptoma.com]

  • Saldino-Noonan Syndrome

    Longitudinal metaphyseal spurs Vertebral abnormalities[fetalultrasound.com] Longitudinal metaphyseal spurs Vertebral abnormalities Adapted from reference 6.[fetalultrasound.com] Type III (Naymoff): wide metaphyses with spurs. Type IV (Beemer-Langer ): median cleft lip and ambiguous genitalia in some 46,XY individuals.[fetalmedicine.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Fracture

    Radiologic changes that should lead to further evaluation for possible deficiency include cupping and fraying of the metaphyses, sickle-shaped metaphyseal spurs, significant[pediatrics.aappublications.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Osteoporosis

    Rachitic rib changes, flail chest, and metaphyseal dysplasia (proximal humerus) in infantile hypophosphatasia Table 1.[ncbi.nlm.nih.gov] Clinical Features of Hypophosphatasia by Type Type Inheritance Cardinal Features Dental Features Clinical Diagnosis Perinatal (severe) AR Hypomineralization, osteochondral spurs[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Menkes Disease

    Skeletal findings in infants with Menkes disease, the most characteristic of which are metaphyseal spurs, long-bone fractures and wormian bones, have been widely reported.[ncbi.nlm.nih.gov] These lesions associated with femoral metaphyseal spurs could be confused with nonaccidental injury such as that seen in the shaken baby syndrome.[ncbi.nlm.nih.gov] Radiographs show generalized osteoporosis, metaphyseal flaring and spurs in the long bones, diaphyseal periosteal reaction and thickening, and Wormian bones in the cranial[orpha.net]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Short Rib-Polydactyly Syndrome

    Polydactyly, micromelia, metaphyseal spurs, widened humeral metaphyses, and shortened ribs can be prominent prenatal ultrasound findings of SRPS III.[ncbi.nlm.nih.gov] , metaphyseal spurs) (Naumoff et al. 1977; Verma et al. 1975).[rrnursingschool.biz] […] marked longitudinal spurs PAS-positive and diastase-resistant cytoplasmic inclusion bodies "bajonet" deformity of the ribs for misalignment and overlap of cartilaginous and[humpath.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Achondrogenesis, Type 1A

    In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[dict.eudic.net]

    Missing: Metaphyseal Spurring
  • Hereditary Hyperekplexia

    Multiple congenital exostosis An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's[amp.pharm.mssm.edu] Spondylo-megaepiphyseal-metaphyseal dysplasia Orofacial cleft 8 Carney complex, type 1 An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin[amp.pharm.mssm.edu]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Subperiosteal Hemorrhage

    Findings on plain radiographs include a lucent transverse metaphyseal band with an adjacent dense sclerotic band, metaphyseal spurring, and nonspecific evidence of diffuse[blogs.nejm.org] Irregularity of the metaphyseal margins frequently occurs secondary to infarctions of the epiphyseal- metaphyseal junction. 3. Pelken’s spurs. 4.[slideshare.net] JSS Medical College, Mysuru PELKAN’S SPUR • Zone of provisional calcification extends beyond the margins of the metaphysis resulting in periosteal elevation and marginal spur[slideshare.net]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

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