No published experience exists in this area, and no guidelines specific to TS exist at present. [ahajournals.org]

Junctional EB has at least 3 distinct subtypes: JEB generalized atrophic benign, JEB gravis, and JEB-PA, all of which show autosomal recessive inheritance and usually present at or shortly after birth. [jamanetwork.com]

Carpal tunnel release surgery is indicated for patients who fail conservative management or who present with moderate-severe sensorimotor symptoms. [esehospitaldebaranoa.gov.co]

In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. [nature.com]

• Coarctation of the Aorta

  Ultrasound findings can include nuchal translucency, cystic hygroma, coarctation of the aorta and/or other left-sided heart defects, brachycephaly, renal anomalies, polyhydramnios, oligohydramnios, and growth retardation. [nature.com]

  The reason may be that the descending aorta is not “normal” in many individuals with TS, who may have dilatation associated with aortic coarctation or a diffuse vasculopathy. [ahajournals.org]

• Asymptomatic

  Perspective p 1670 For many years, the cardiovascular phenotype in TS was defined largely on clinical grounds, capturing mainly aortic valve abnormalities affecting ≈20% and aortic coarctation affecting ≈12%.7,8 In recent years, however, investigations in asymptomatic [ahajournals.org]

• Surgical Procedure

  It is helpful to elicit specific inciting events in the case of nerve injury, such as trauma or medical/surgical procedure history. [esehospitaldebaranoa.gov.co]

• Pulmonary Valve Stenosis

  Valve Stenosis Aplasia Cutis Congenita Advanced Ectodermal Dysplasias Clouston Syndrome Adenylosuccinate Lyase Deficiency Increased Head Circumference Ospedale Pediatrico Bambino Gesu Internal Medicine Male Practicing approx. 42 years Bio Marco Tartaglia [medifind.com]

• Pathologist

  Individual laboratories are responsible for meeting the Clinical Laboratory Improvement Amendments/College of American Pathologists quality assurance (QA) standards with respect to appropriate sample documentation, assay validation, general proficiency [nature.com]

• Cough

  4X (tickling, dry cough, worse at night), Ipecacuanha 4X (incessant, violent cough), Lobelia inflata 4X (dyspnea from constriction of chest), Sticta pulmonaria 4X (dry, hacking cough during night), Kreosotum 5X (hoarseness with pain in larynx) 30 mg [esehospitaldebaranoa.gov.co]

• Dyspnea

  Hyoscyamus niger 4X (dry, spasmodic night cough), 60 mg each; Antimonium tartaricum 4X (great rattling of mucus but little expectoration), Belladonna 4X (tickling, dry cough, worse at night), Ipecacuanha 4X (incessant, violent cough), Lobelia inflata 4X (dyspnea [esehospitaldebaranoa.gov.co]

• Diarrhea

  Difficulty with oral feedings and the development of diarrhea with a protein-losing enteropathy seem to be common features in many of these infants, including survivors, and are major contributing factors to death in early infancy. [jamanetwork.com]

• Low Set Ears

  Phenotypic features vary widely but commonly include short stature, ovarian failure, edema of hands or feet, nuchal folds, left-sided cardiac anomalies, low hairline, low set ears, small mandible, cubitus valgus, nail hypoplasia, hyperconvex nails, multiple [nature.com]

• Secondary Amenorrhea

  Likewise, individuals with deletions of Xq24 with primary or secondary amenorrhea without short stature are typically diagnosed with premature ovarian failure.15 Mode of inheritance Turner syndrome is sporadic. [nature.com]

• Clitoromegaly

  If the patient reveals an apparently nonmosaic 45,X karyotype and has clitoromegaly or other masculinizing features, it is very likely that there is mosaicism for a Y chromosome-containing cell line.15 FISH with probes for the X and Y centromeres should [nature.com]

• Ataxia

  […] intoxication Vitamin E deficiency Stroke Causes by Organ System Cardiovascular Stroke Chemical / poisoning Aftershave, barium sulfate, selenious acid, cone shell poisoning, erythrokeratodermia ataxia, eucalyptus oil poisoning, licorice, herbal agent [wikidoc.org]

  Renal tubular acidosis distal autosomal dominant Renal tubular acidosis distal autosomal recessive Renal tubular acidosis distal type 3 Renal tubular acidosis distal type 4 Renal tubular dysgenesis Renal tubulopathy diabetes mellitus and cerebellar ataxia [personalizedcause.com]

• Confusion

  6X (confusion; irritability), Thuja occidentalis 6X (memory deficiency), Cerebrum suis 8X (mental exhaustion; brain weakness), Ignatia amara 8X (sad, uncommunicative), Kali bichromicum 8X (vertigo; frontal headache), Manganum phosphoricum 8X (weak memory [esehospitaldebaranoa.gov.co]

The following resources can be used to stay informed about new treatments and research results related to a rare disease: PubMed PubMed is a database of published research articles. [rarediseases.info.nih.gov]

Initial treatment is conservative, but may also include steroid injections into the tarsal tunnel or surgical release. [esehospitaldebaranoa.gov.co]

Aortic distensibility and dimensions and the effects of growth hormone treatment in the Turner syndrome. Am J Cardiol. 2006; 97: 1644–1649.CrossrefMedlineGoogle Scholar 20 Khan IA, Nair CK. [ahajournals.org]

Download citation Received: 16 October 2009 Accepted: 16 October 2009 Issue Date: January 2010 DOI: https://doi.org/10.1097/GIM.0b013e3181c684b2 Keywords Turner syndrome guideline cytogenetics mosaicism Further reading Turner Syndrome: for successful treatment [nature.com]

Conclusions The poor prognosis of this condition must be considered when decisions are made regarding surgical correction. [jamanetwork.com]

Identification of Y chromosome material in females with Turner syndrome is important because of the risk of gonadoblastoma.18 A gonadoblastoma is a neoplasm composed of germ cells and sex cord elements with an excellent prognosis if detected early. [nature.com]

An appropriate examination of the spine should be performed to distinguish between central and peripheral etiologies. There are many causes of painful peripheral neuropathies, many of which are idiopathic. [esehospitaldebaranoa.gov.co]

Clinical and epidemiological description of aortic dissection in Turner’s syndrome. Cardiol Young. 2006; 16: 430–436.CrossrefMedlineGoogle Scholar 16 Lin AE, Lippe B, Rosenfeld RG. [ahajournals.org]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome. Am J Cardiol. 2005; 95: 1125–1127.CrossrefMedlineGoogle Scholar 36 Judge DP, Dietz HC. Marfan’s syndrome. [ahajournals.org]

[…] low-level sex chromosome mosaicism.25 Although the frequency of gonadoblastoma in Turner syndrome with occult Y chromosome mosaicism without evidence of virilization is not fully appreciated, additional studies are recommended in these cases to help prevent [nature.com]