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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -18 مورد

Approximate incidence of major clinical abnormalities in Turner syndrome

Approximate incidence of major clinical abnormalities in Turner syndrome
Abnormalities Frequency (percent) Abnormalities Frequency (percent)
Skeletal growth disturbances Other features
Short stature 95 to 100 Cardiac malformations Up to 50
Growth failure 90 to 95 Elongated transverse aortic arch 40 to 50
Increased upper-to-lower segment ratio >90 Aortic valve abnormalities
(primarily bicuspid aortic valve)		 15 to 30
Defective dental development, malocclusion Up to 75 Coarctation of the aorta 7 to 17
Characteristic facies with micrognathia 60 Pulmonary venous abnormalities 13 to 15
Cubitus valgus 50 Systemic venous abnormalities
(such as persistent left superior vena cava)		 8 to 13
Kyphosis 50 Ventricular septal defects 1 to 4
Short neck 40 Atrial septal defects 1 to 2
Genu valgum 35 Coronary artery abnormalities Up to 2
High-arched palate 35 Hypoplastic left heart <1
Widely spaced nipples, broad chest 30 to 35 Electrocardiographic abnormalities (minor) 50
Short metacarpals 35 Prolonged QTc interval 21 to 36
Scoliosis 10 to 20 Kidney and renovascular anomalies 20 to 30
Madelung deformity 5 Collecting system malformations Approximately 20
Lymphatic obstruction Horseshoe kidney 10
Low posterior hairline 40 Hypertension 30
Edema of hands/feet 20 to 30 Ocular abnormalities  
Characteristic dermatoglyphics 30 Myopia or hyperopia 20 to 50
Webbed neck 25 Strabismus 15 to 30
Earlobe anomalies (eg, rotated) 15 to 20 Amblyopia >15
Nail dysplasia 10 Ptosis 10 to 30
Germ cell chromosomal defects Ears and hearing  
Infertility 95 Recurrent otitis media 50 to 70
Ovarian failure 90 Sensorineural hearing loss 50 (by adulthood)
Gonadal dysgenesis 85 to 90 Conductive hearing loss 10 to 40
Gonadoblastoma 5 Cholesteatoma 5
  Skin  
Multiple pigmented nevi 25
Vitiligo 5
Alopecia 5
Autoimmune
Thyroiditis (rate increases with age) 15 to 30
Celiac disease 6
Inflammatory bowel disease 4
References:
  1. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998; 51:147.
  2. Sylvén L, Hagenfeldt K, Bröndum-Nielsen K, von Schoultz B. Middle-aged women with Turner's syndrome. Medical status, hormonal treatment and social life. Acta Endocrinol (Copenh) 1991; 125:359.
  3. Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991; 20:121.
  4. Gøtzsche CO, Krag-Olsen B, Nielsen J, et al. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 1994; 71:433.
  5. Kim HK, Gottliebson W, Hor K, et al. Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population. AJR Am J Roentgenol 2011; 196:454.
  6. Mortensen KH, Andersen NH, Gravholt CH. Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology. Endocr Rev 2012; 33:677.
  7. Bondy CA, Van PL, Bakalov VK, et al. Prolongation of the cardiac QTc interval in Turner syndrome. Medicine (Baltimore) 2006; 85:75.
  8. Bondy CA, Ceniceros I, Van PL, et al. Prolonged rate-corrected QT interval and other electrocardiogram abnormalities in girls with Turner syndrome. Pediatrics 2006; 118:e1220.
  9. Bondy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007; 92:10.
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