A 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. [scholars.opb.msu.edu]

A genetic disorder of females who present in infancy with patent ductus arteriosus, mental and growth retardation, upward slanting of eyes, carpal hypoplasia, and clinodactyly of the 5th finger Segen's Medical Dictionary. © 2012 Farlex, Inc. [medical-dictionary.thefreedictionary.com]

Cardiovascular malformations may also be present. External genitalia are generally normal but gonadal dysfunction has been reported. [orpha.net]

This text presents a comprehensive overview of the psychopathological disorders of childhood and adolescence from a brain-based perspective. [books.google.com]

Abstract A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive ureteral [unboundmedicine.com]

• Marfanoid Habitus

  A recent physical examination showed a X inactivation, the theoretically expected five equal classes mentally retarded young adult, with poor language develof cells with one active X chromosome and four inactive X opment, marfanoid habitus and disproportionate [youscribe.com]

  A recent physical examination showed a mentally retarded young adult, with poor language development, marfanoid habitus and disproportionate upper/lower body segments (Figure 1 ); her profile was very flat; with ocular hypertelorism, upslanting palpebral [doi.org]

• Pleural Effusion

  Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. [ncbi.nlm.nih.gov]

• Hyperlaxity

  1/19 [−] Congenital Heart Disease 9/20 [+] upward slanting palpebral fissures 8/19 [−] Skeletal Anomalies hypertelorism 2/6 [−] proximal radioulnar synostosis 2/6 [−] ear anomalies 11/20 [+] hand arachnodactyly 1/6 [−] depressed nasal bridge 1/6 [−] hyperlaxity [ncbi.nlm.nih.gov]

• Cranial Asymmetry

  She had microcephaly but no cranial asymmetry, and normal pinnae with some posterior rotation of the right. An epicanthic fold was indicated on the right; the nasal bridge was broad, but there was no hyper- telorism. [documents.tips]

• Pleural Effusion

  Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. [ncbi.nlm.nih.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

The therapeutic success of the treatment was strongly supported by the significant cooperation and relationship that grew up along the period of the treatment, as well as the desire to have the treatment done by both the patient and her parents. [scielo.br]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[…] developmental delay [1] [2] Complications Congenital heart disease [3] Causes 5 X chromosomes [2] Risk factors Older parents [2] Diagnostic method Chromosomal analysis [2] Differential diagnosis Down syndrome, triple X syndrome, tetrasomy X, Turner syndrome [2] Treatment [en.wikipedia.org]

Though significant disability is characteristic, there are so few diagnosed cases that confident conclusions about the presentation and prognosis remain impossible. [wikiwand.com]

However, the intellectual disabilities observed in pentasomy X are rare in Turner syndrome.[5] Prognosis[edit] The long-term prognosis of pentasomy X is unclear, due to its low prevalence.[1] Though some reviews claim a poor prognosis due to the congenital [en.wikipedia.org]

Etiology Pentasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. [orpha.net]

Each chapter includes the etiology of each disorder (including genetics), its prevalence, clinical presentation, assessment considerations, and evidence-based treatments. [books.google.com]

Summary Epidemiology The prevalence is unknown but less than 40 cases have been described in the literature so far. [orpha.net]

Geophagia syndrome] 1988 Oct [A comparative epidemiologic study of chronic juvenile arthritis in the western section of Paris and Brittany (1982)] [Epidemiology, over an 8 year period, of attempted suicides in children, seen in emergency service] 1972 [database.pherobase.com]

More @ themedicalnotes.com Download Image Klinefelter Syndrome Practice Essentials Pathophysiology... More @ medscapestatic.com Download Image Cabin Fever Indoor Winter Outings for Kids Niagara Mommy... [auto-kfz.info]

Currently, 49,XXXXX Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

This is because the extra X chromosomes usually lead to small testicles and a testosterone deficiency that delays or prevents full pubertal development. [childrenscolorado.org]

Adopting measures to promote health, as well as early preventive and curative actions is important when providing dental care for patients with special needs. [revodonto.bvsalud.org]