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930 Possible Causes for prenatal and postnatal, Short Stature, Turner Syndrome

  • Growth Failure

    Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov] Syndrome. 1 Growth failure due to Turner Syndrome, which affects approximately 1:2,000 girls, is a genetic defect in which all or part of one of the two X-chromosomes is[hcp.merckgroup.com] Thus, while GH does not appear to be essential for intrauterine growth, IGF-I itself is critically involved in both prenatal and postnatal growth.[oncohemakey.com]

  • Familial Short Stature

    Abstract This study was planned to search for the presence of possible tubular bone abnormalities in familial short stature (FSS) as has been previously noted in some reports[ncbi.nlm.nih.gov] Ellison JW et al. (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome. [ ] 14.[moldiag.com] The same mutation was also identified in her mother, who presented prenatal and postnatal growth failure, and her short-statured maternal grandmother, both of whom exhibited[ncbi.nlm.nih.gov]

  • Turner Syndrome

    stature (Short-Stature Group) were enrolled.[ncbi.nlm.nih.gov] - 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[wikidata.org] Research Prenatal and postnatal...[doi.org]

  • Russell-Silver Syndrome

    Abstract A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism.[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov] Russell-Silver syndrome (RSS) should be suspected in patients with prenatal and postnatal growth retardation.[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    […] signalling pathways involved in short stature.[doi.org] Synonym(s): Male Turner Syndrome / Turner Syndrome, Male / Female Pseudo-Turner Syndrome / Turner's Syndrome, Male [hon.ch] Diagnosis (prenatal vs postnatal) Table 1: Noonan Syndrome, major and minor diagnostic criteria.[pedclerk.bsd.uchicago.edu]

  • Klinefelter Syndrome

    We present a patient with Klinefelter syndrome and short stature due to growth hormone deficiency.[ncbi.nlm.nih.gov] Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases.[ncbi.nlm.nih.gov] The objective of this study was to describe the prevalence of Klinefelter syndrome (KS) prenatally and postnatally in Denmark and determine the influence of maternal age.[ncbi.nlm.nih.gov]

  • 45,X/46,XY Mixed Gonadal Dysgenesis

    In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found.[orpha.net] The external genitalia are always masculinized to some extent, on occasion achieveing a normal male phenotype: the somatic signs of Turner's syndrome are frequently present[pediatrics.aappublications.org] There exist substantial differences between prenatally and postnatally diagnosed cases of 45,X/46,XY mosaicism.[pediatrics.aappublications.org]

  • Hypogonadotropic Hypogonadism

    Aged 17 years, the boy was referred because of short stature (162 cm) and overweight (62.5 kg).[ncbi.nlm.nih.gov] Abstract Turner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted 1.[oadoi.org] Annual frequency and prevalence of KS diagnoses in the period 1970–2000 diagnosed prenatally or postnatally Year Prenatal diagnosis of KS Postnatal diagnosis of KS All prenatal[doi.org]

  • Autosomal Dominant Mental Retardation Type 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] 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.[diapedia.org] Individuals with CdLS exhibit abnormal growth delays that affect both weight and linear growth before and after birth (prenatal and postnatal growth retardation).[rarediseases.org]

  • Wolf-Hirschhorn Syndrome

    This case, together with a familial 4p deletion involving the distal 400 kb reported in normal women, may narrow the critical region for short stature on 4p to 360-760 kb.[ncbi.nlm.nih.gov] 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[dx.doi.org] The major features of this disorder include a characteristic facial appearance known as the "Greek helmet," delayed growth and development; prenatally and postnatally, intellectual[ncbi.nlm.nih.gov]

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