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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.[ncbi.nlm.nih.gov] Special consideration is needed in scoliosis surgery, with challenges arising from prone positioning, neurophysiology monitoring, and blood loss.[ncbi.nlm.nih.gov] Nutritional rickets, caused by a vitamin D deficiency. Cushing’s disease. Calcium deficiency/malabsorption. Nonaccidental injury.[gillettechildrens.org]

  • 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[en.wikibooks.org] Spinal fusion for scoliosis.[orthoinfo.aaos.org] Nutritional rickets, caused by a vitamin D deficiency. Cushing’s disease. Calcium deficiency/malabsorption. Nonaccidental injury.[gillettechildrens.org]

  • Rickets

    Type 1 is characterized by fractures of varying severity, blue sclerae, abnormal tooth development, and wormian bones in the skull.[doi.org] 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[thachers.org] Vitamin D deficiency is the most common cause of rickets. Vitamin D deficiency prevents the efficient absorption of dietary calcium and phosphorus.[jci.org]

  • 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[medicinenet.com] Scoliosis is usually treated aggressively as the problem tends to progress in children with osteogenesis imperfecta.[verywell.com] Nutritional rickets, caused by a vitamin D deficiency. Cushing’s disease. Calcium deficiency/malabsorption. Nonaccidental injury.[gillettechildrens.org]

  • 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.[ncbi.nlm.nih.gov] 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[bone-abstracts.org] 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[institutobernabeu.com]

  • Cerebro-Facio-Thoracic Dysplasia

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

  • 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[ctds.info] - another condition that can cause scoliosis to arise.[scoliosissos.com] Pectus excavatum and scoliosis Pectus excavatum sufferers are more likely than average to develop scoliosis, a sideways curvature of the spine.[scoliosissos.com]

  • 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[familydiagnosis.com] Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis 613075 Genetic Test Registry Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like SCD-EDS 612350 Genetic[ukgtn.nhs.uk] , 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[centogene.com]

  • 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.[ncbi.nlm.nih.gov] (H673fs)) in a 15-year-old patient whose SATB2-associated syndrome phenotype is accompanied by osteoporosis, fractures, progressive tibial bowing, and scoliosis.[ncbi.nlm.nih.gov] […] severe vitamin D deficiency.[aclr.com.es]

  • Epidermal Nevus Syndrome

    It is a blue or gray-brown patchy area of pigmentation that grows slowly and becomes deeper in color.[medical-dictionary.thefreedictionary.com] 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[ncbi.nlm.nih.gov] Hypophosphatemic rickets can occur due to vitamin D deficiency and low phosphate.[news-medical.net]

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