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68 Possible Causes for Abnormal Spine X-Ray, Kallmann Syndrome, Osteopenia

  • Osteoporosis

    These include Turner syndrome, Klinefelter syndrome, Kallmann syndrome, anorexia nervosa, andropause, hypothalamic amenorrhea or hyperprolactinemia.[] Most fractures in postmenopausal women occur in those with osteopenia, so therapies that are effective in women with osteopenia are needed.[] Tetrasomy 20p is a very rare chromosome abnormality, with only two single cases previously reported in the literature, both fetuses with multiple congenital anomalies, osteopenia[]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    PROKR2) Kallmann syndrome 3 KAL4 (offiz. PROK2) Hypogonadism, hypogonadotropic Kallmann syndrome 4 KAL5 (off.[] Skeletal limb abnormalities Thoracic spine x-ray WBC scan X-ray – skeleton Diagnosis and Tests ALP (Alkaline Phosphatase) Test American Association for Clinical Chemistry[] Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton.[]

  • Primary Hyperoxaluria

    INPP5E Top K Kallmann Syndrome FGFR1 KELL Antigen KEL Kennedy-Spinal bulbar SMAX1 Krabbe Disease GALC Top L Leber Retinal Congenital Amaurosis -X GUCY2D, CEP290 Leigh Complex[] Skeletal survey showed osteopenia and characteristic symmetrical metaphyseal transverse bands in long bones, progressively becoming more dense and migrating towards the diaphysis[] […] hydroxypyruvate reductase liver-specific mitochondrial 4-hydroxy-2-oxoglutarate aldolase enzyme Plain radiograph Plain radiographs demonstrate osteosclerosis as well as osteopenia[]

  • X-Linked Osteoporosis with Fractures

    Dynamic, or flexion/extension X-rays (X-rays that show the spine in motion) may be obtained to see if there is any abnormal or excessive movement or instability in the spine[] […] punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain-lung-thyroid syndrome Bruck syndrome[] The most common cause by far of osteopenia is osteoporosis.[]

  • Cole-Carpenter Syndrome

    Diagnosis is typically based on medical imaging, including plain X-rays, and symptoms. Signs on medical imaging include abnormalities in all extremeties and the spine.[] ジュベー症候群 MarieJoubert Canadian neurologist Kahn カーン Kahn test カーンテスト Kallmann カルマン Kallmann syndrome カルマン症候群 Kaposi カポジ Kaposi's sarcoma カポジ肉腫 Móric Kaposi (1837 -1902) Hungarian[] A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive[]

  • Mesomelic Dysplasia Type Savarirayan

    […] punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain-lung-thyroid syndrome Bruck syndrome[] Abnormal x-ray results that may indicate a skeletal dysplasia include: dumbbell-shaped long bones bowing of the arms and legs oval-shaped translucencies in the femur and humerus[] Osteopenia. D Bowed femora. Coxa valga. Abnormal trabecularpattern. E 15 years old. The tubular bones of the hands are shortened and wide.[]

  • Platyspondyly

    […] postnatal abnormal spine curvature X-ray Shape of spine WTSI IMPC 6.36E-5 Wdr37 Wdr37 tm1a(KOMP)Wtsi HOM postnatal abnormal spine curvature X-ray Shape of spine WTSI IMPC[] ) FGFR1 ( Pfeiffer syndrome, KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3[] Radiologic features included mild to moderate platyspondyly , mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks[]

  • Autosomal Recessive Cutis Laxa Type 1A

    Syndrom MLL2 Kallmann-Syndrom KAL1, FGFR1, CHD7, FGF8, PROK2, PROKR2, KISS1R, GNRHR kongenitales zentrales Hypoventilationssyndrom PHOX2B Lamelläre Ichtyosis ABCA12, TGM1[] A chest X-ray (posteroanterior view) showed normal findings while spine X-ray (anteroposterior view) showed mild scoliosis with spina bifida occulta.[] While the patients with GORAB mutations have severe osteopenia, the patients with PYCR1 mutations have severe mental retardation.[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    UPD chr. 14 Kallmann syndrome type 2 FGFR1 Kallmann syndrome type 4 PROK2 Kallmann syndrome type 5 CHD7 KBG syndrome ANKRD11 Keutel syndrome MGP Kleefstra syndrome EHMT1[] spine in the neutral position; if no suspicious abnormalities are seen, they should have x-rays done in flexion and extension positions.[] , skin changes (eg, hirsutism, striae, acanthosis nigricans, acne, easy bruising), virilization, delayed puberty and amenorrhea, headaches, glucose intolerance, fatigue, osteopenia[]

  • Thalassemia Minor

    We measured spine and femur BMD and whole body BMC by DXA and assessed vertebral abnormalities by morphometric Xray absorptiometry (MXA).[] Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141 WeillMarchesani Syndrome 20 Laron Dwarfism 142 WeismannNetterStuhl Syndrome 21 Lipodystrophy Acquired Generalized[] She was found to have marked axial osteopenia with lumbar spine bone mineral density that was more than three standard deviations below the mean, but had normal bone mineral[]

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