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66 Possible Causes for Prenatal and Postnatal Short Stature, Turner Syndrome

  • Familial Short Stature

    short stature.[] Ellison JW et al. (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome. [ ] 14.[] Syndrome 2281 Genetics and Growth Response to Growth Hormone Treatment in Comparison with Turner Syndrome 2299 138 Zinc Transporter Mutations and Human Growth 2319 139 Growth[]

  • Coarctation of the Aorta

    Increased nuchal translucency and aortic coarctation with a small ventricular septal defect were described prenatally, hypertrophic cardiomyopathy was detected postnatally[] Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve.[] Cardiovascular abnormalities are frequently encountered in patients with Turner's syndrome.[]

  • Turner Syndrome

    […] counseling and management after the diagnosis was made either prenatally or postnatally.[] This is the test of choice to diagnose Turner syndrome. As a chromosomal condition, there is no cure for Turner syndrome.[] - Turner Karyotype 45, X Monosomy X Turner syndrome (disorder) Turner's syndrome NOS Turner's syndrome NOS (disorder) XO syndrome monosomy X syndrome Ullrich–Turner syndrome[]

  • Mesomelic Dysplasia Type Langer

    Auxological parameters are fundamental to investigate potential short stature (SS), either with a known diagnosis, e.g. disproportionate or proportionate, prenatal and/or[] Our case presented with severe short stature and skeletal deformities with Turner syndrome (TS) and a SHOX gene abnormality due to a downstream allele deletion in her normal[] SHOX haploinsufficiency has been implicated in three human growth disorders: Turner syndrome, idiopathic short stature, and Leri-Weill dyschondrosteosis.[]

  • Autosomal Dominant Mental Retardation Type 21

    In addition, affected individuals may remain low in weight and exhibit abnormally short stature (prenatal and postnatal growth retardation), failure to thrive during infancy[] Turner's Syndrome Turner's syndrome is a chromosomal abnormality in which all or part of the X chromosome is missing, resulting in an XO female.[] Q87.1 Sjögren-Larsson syndrome Q87.1 Syndrome - see also Disease pseudo -Turner's Q87.1 Turner-like syndrome Q87.1 Ullrich Q87.1 (-Bonnevie)(-Turner) - see also Turner's syndrome[]

  • Osteoporosis

    […] teeth Clinical course, radiographs, laboratory findings Childhood (juvenile) AR or AD Short stature, skeletal deformity, bone pain/fractures Premature loss, deciduous teeth[] These include Turner syndrome, Klinefelter syndrome, Kallmann syndrome, anorexia nervosa, andropause, hypothalamic amenorrhea or hyperprolactinemia.[] syndrome Chronic illness Cystic fibrosis Connective tissue disorders (lupus, juvenile idiopathic arthritis, juvenile dermatomyositis) Inflammatory bowel disease, celiac disease[]

  • Coxa Valga

    […] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[] Turner syndrome, mucopolysaccharidoses unilateral trauma causing growth plate arrest Plain radiograph Coxa valga occurs when the angle formed between the neck of the femur[] Turner syndrome, mucopolysaccharidoses Unilateral Trauma causing growth plate arrest Imaging Plain X-rays The angle formed between the neck of the femur and its shaft is increased[]

  • Wolf-Hirschhorn Syndrome

    Short stature and slow weight gain is common postnatally. Central nervous system Neurologic concerns are common and include the following.[] Up to date there are no WHS-specific growth charts available in contrast to more common chromosomal disorders like Down’s syndrome, Turner syndrome and Prader-Willi syndrome[] The nonlethal monosomy affecting the X-chromosome (Turner’s syndrome) will be considered below.[]

  • Russell-Silver Syndrome

    Systematic testing of cases suspected prenatally or postnatally would be informative regarding the individual contribution of each factor.[] After delivery she was noted to have features not explainable on the basis of Turner syndrome. Her phenotype actually was quite consistent with Russell-Silver syndrome.[] Ranke MB, Stubbe P, Majewski F, Bierich JR (1988) Spontaneous growth in Turner's syndrome. Acta Paediatr Scand [Suppl] 343:22–30 Google Scholar 20.[]

  • Ring Chromosome 15

    She had prenatal and postnatal growth deficiency with a severe short stature, peculiar facies characterized by a triangular face, a pinched nose with anteverted nostrils and[] Molar Pregnancy 16 HAIRAN Syndrome 138 Turner Syndrome 17 Hermaphroditism True 139 Von HippelLindau Disease 18 Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141[] 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy, other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,[]

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