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138 Possible Causes for Blue Sclera, Scoliosis, Vitamin D Deficiency with Rickets

  • Osteogenesis Imperfecta

    Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them.[] Special consideration is needed in scoliosis surgery, with challenges arising from prone positioning, neurophysiology monitoring, and blood loss.[] Nutritional rickets, caused by a vitamin D deficiency. Cushing’s disease. Calcium deficiency/malabsorption. Nonaccidental injury.[]

  • Osteogenesis Imperfecta Type 3

    […] in the perinatal period Numerous fractures and severe bone deformity Length and weight SGA Head large for body size Usually blue-gray sclera Markedly reduced ossification[] Spinal fusion for scoliosis.[] Nutritional rickets, caused by a vitamin D deficiency. Cushing’s disease. Calcium deficiency/malabsorption. Nonaccidental injury.[]

  • Rickets

    Type 1 is characterized by fractures of varying severity, blue sclerae, abnormal tooth development, and wormian bones in the skull.[] Bowleg deformity (genu varum) Bowing of long bones in legs Wrist enlargement Ankle enlargement Rib beading (rachitic rosary) Harrison's sulcus and pot belly Chest deformity Scoliosis[] Vitamin D deficiency is the most common cause of rickets. Vitamin D deficiency prevents the efficient absorption of dietary calcium and phosphorus.[]

  • Osteogenesis Imperfecta Type 2

    The disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal[] Scoliosis is usually treated aggressively as the problem tends to progress in children with osteogenesis imperfecta.[] Nutritional rickets, caused by a vitamin D deficiency. Cushing’s disease. Calcium deficiency/malabsorption. Nonaccidental injury.[]

  • Cole-Carpenter Syndrome

    In addition, these patients also had proptosis, blue sclerae, hydrocephalus, and a distinct facial gestalt. They were reported to be of normal intelligence.[] Mutations in CRTAP have been described in association with type 2 (perinatally lethal) and type 3 OI (severely-deforming bones with extreme short stature, scoliosis and dentinogenesis[] CYP27A1 2q35 Cerebrotendinous xanthomatosis 213700 CYP27B1 12q14.1 Vitamin D-dependent rickets, type I 264700 D B T 1p21.2 Maple syrup urine disease, type II 248600 D CLRE1C[]

  • Cerebro-Facio-Thoracic Dysplasia

    […] nevi): especially of the face, trunk, lips, and sclera M...[] Otherfindings included abdominal recti muscle diastasis anddorsolumbar scoliosis.[] , Vitamin D Deficiency Rieger Syndrome Ring Chromosome 4 Roberts Syndrome Robinow Syndrome Rocky Mountain Spotted Fever Romano Ward Syndrome Rosai-Dorfman Disease Rosenberg[]

  • Funnel Chest

    Return to top Blue Sclera, Pectus Excavatum and Rickets Blue sclera are found frequently in conjunction with pectus excavatum and other ricket-like features in a wide variety[] - another condition that can cause scoliosis to arise.[] Pectus excavatum and scoliosis Pectus excavatum sufferers are more likely than average to develop scoliosis, a sideways curvature of the spine.[]

  • Musculocontractural Ehlers-Danlos Syndrome Type 2

    Syndrome Inguinal hernia Brachycephaly Downslanted palpebral fissures Telecanthus Arachnodactyly Patent foramen ovale Nervous System Disorders Congenital eye abnormality Blue[] Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis 613075 Genetic Test Registry Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like SCD-EDS 612350 Genetic[] , vitamin D 25-hydroxylation-deficient, type 1B CYP2R1 Rickets, vitamin D dependent, type 1 CYP27B1 Rickets, vitamin D-resistant, type 2A VDR Sarcoidosis, early-onset NOD2[]

  • Osteoporosis

    To further characterize the significance of the mutation we studied his mother who is 30 year old with blue sclera and history of backache but no fractures.[] (H673fs)) in a 15-year-old patient whose SATB2-associated syndrome phenotype is accompanied by osteoporosis, fractures, progressive tibial bowing, and scoliosis.[] […] severe vitamin D deficiency.[]

  • Epidermal Nevus Syndrome

    It is a blue or gray-brown patchy area of pigmentation that grows slowly and becomes deeper in color.[] An 18-year-old man with epidermal nevi was diagnosed as having the syndrome based on the additional presence of scoliosis, an arachnoid cyst in the middle cranial fossa, and[] Hypophosphatemic rickets can occur due to vitamin D deficiency and low phosphate.[]

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