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6,260 Possible Causes for All Reported Mutations Have Occurred De Novo, Pediatric Disorder, Sacral Fusion

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  • Cerebro-Costo-Mandibular Syndrome

    Musculoskeletal anomalies occasionally include clinodactyly, sacral fusion, flask shaped pelvis, and hypoplasia of the humerus, sternum, clavicles, and pubic rami. [9], [11[] A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[]

  • Spinal Osteochondrosis

    Anomalies of the spinal column, for example, vertebra fissure, sacralization. Syndrome Forrest. 2 and 3 trimester of pregnancy. Fusion fractures of the spine.[] As it relates to Congenital Malformations, Deformations, and Chromosomal Abnormalities, Q Codes, there are some possible reasons for Upper Back Pain from these disorders.[] Q76.0 ) spinal curvature in: · osteoporosis ( M80-M81 ) · Paget's disease of bone [osteitis deformans] ( M88.- ) M43.0 Spondylolysis M43.1 Spondylolisthesis M43.2 Other fusion[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Hypospadias

    In some cases, abnormal side-to-side curvature of the spine (scoliosis) and absence of the tailbone, the lowest bone of the spinal column (sacral agenesis) may also occur.[] According to pediatric neurologists: Hypospadias is a disorder that primarily affects male newborns. Hypospadias also has a genetic component.[] Hughes, Evaluation and Management of Disorders of Sex Development, Brook's Clinical Pediatric Endocrinology, (192-212), (2010). W.-W. Wang, C.-H. Deng, L.-W. Chen, L.-Y.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Acute Gastroenteritis

    Seventy children with acute gastroenteritis and their parents completed the Rome III Diagnostic Questionnaire for Pediatric Functional GI Disorders and the Children's Somatization[] Rotavirus gastroenteritis: precursor of functional gastrointestinal disorders?. J Pediatr Gastroenterol Nutr. 2009 Nov. 49(5):580-3. [Medline].[]

    Missing: All Reported Mutations Have Occurred De Novo Sacral Fusion
  • Brandt Syndrome

    It is characterized by the fusion of the lower extremities ( Lutz et al ., 2004 ).[] Acrodermatitis enteropathica is a rare genetic disorder, especially in pediatric and dermatology clinics.[] A genetic test can confirm clinical diagnosis of the disorder, but a pediatric neurologist or developmental pediatrician must order that test.[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Vitamin D Deficiency

    Hypocalcemic and hypercalcemic disorders in children. Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[]

    Missing: All Reported Mutations Have Occurred De Novo Sacral Fusion
  • Tibia Varum

    .: Cauda Equina Syndrome (CES) Following In Situ Fusion of Severe Spondylolisthesis of the Lumbo-Sacral Junction. J Bone Joint Surg 1990 (72A:369-77).[] 12/18/2017 by Megan Young, MD, Children’s National Medical Center, Washington, DC Pediatric Lower Extremity Disorders Topics covered in this section: Genu varum Physiologic[] Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make[]

    Missing: All Reported Mutations Have Occurred De Novo
  • Acute Alcohol Intoxication

    Psychiatry Association Text Revision Estimated blood alcohol concentrations for child and adolescent drinking and their implications for screening instruments, Pediatrics[] The inactive ALDH2(2) allele is dominant, J Clin Invest, 1989, vol. 83 (pg. 314 - 6 ) Diagnostic and Statistical Manual of Mental Disorders, 2000 4th ed Washington, DC American[]

    Missing: All Reported Mutations Have Occurred De Novo Sacral Fusion
  • Congenital Cortical Hyperostoses

    […] agenesis Congenital absence of the pedicles Transitional vertebrae Scoliosis Congenital kyphosis Congenital malformations of the thorax Cervical ribs Costal fusion Other[] Spina bifida Butterfly vertebra Anterior spina bifida Incomplete segmentation of vertebral segments Spondylolysis and spondylolisthesis Hemivertebrae Sacrococcygeal agenesis Sacral[]

    Missing: All Reported Mutations Have Occurred De Novo
  • SHORT Syndrome

    Other authors found more distal lesions such as fusion of L5-S1, sacral dysplasia and agenesis of the coccyx, 2 and other patients, including patients 7, had hemivertebrae[] Pediatric disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed.[] Nelson textbook of pediatrics. 1. 20th ed. Philadelphia: Elsevier; 2016.p. 84-9. [ Links ] 5 Ergun-Longmire B, Wajnrajch MP. Growth and growth disorders.[]

    Missing: All Reported Mutations Have Occurred De Novo