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]

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]

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

Case report: We present a 28 month old female patient with short stature, brachycephaly, characteristic facies, with female external genitalia, hypoplasic labia majora, brachydactyly, bilateral clinodactyly of the fifth finger, dislocation of the right [scielo.org.co]

• Systolic Murmur

  Auscultation of chest revealed bilateral crepitations and the cardiovascular examination revealed 3/6 systolic murmur. Palpable hepatomegaly was present in the abdomen. [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]

• Round Face

  The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first [scholars.northwestern.edu]

  Is a feature very rare, since only is has knowledge of some 25 cases in the world.It was discovered in 1963 and is associated with microcephaly (small head), micrognathia (small jaw) and round face. [wordmeaning.org]

  These often include a small head (microcephaly), a round face, upslanting eyelid folds (palpebral fissures), a flat nasal bridge, low-set malformed ears, and/or a short neck with a low hairline. [rarediseases.org]

• Thick Lips

  Additional craniofacial features reported in association with penta X syndrome have included abnormal, rudimentary outgrowths of tissue in front of the external ears (preauricular tags), a small jaw (micrognathia), thick lips, and/or incomplete closure [rarediseases.org]

• Absent Deep Tendon Reflexes

  The neurological examination was notable for diffuse hypotonia, tongue fasciculations and absent deep tendon reflexes. She also had oblique eye fissures, upward ears, thenar atrophy and normal external genitalia. [ncbi.nlm.nih.gov]

Standard Therapies Treatment Due to the wide variability in phenotypic outcome, the treatment of penta X syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.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]