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Short Stature - Wormian Bones - Dextrocardia Syndrome
Stratton-Parker Syndrome

Presentation

Slight motor delay was present in both cases; in our case this has normalized as the patient has grown. [docslide.us]

Clinical presentation. 1. General: growth deficiency. 2. [nursekey.com]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.de]

Finally, we shall present a review of a few, less frequent dysmorphic syndromes with short stature, in which a growth hormone deficiency has been diagnosed and replacement treatment attempted. © 1995 S. [karger.com]

Entire Body System

  • Recurrent Infection

    […] syndrome Levic Stefanovic Nikolic syndrome Muscular dystrophy white matter spongiosis Wilms' tumor Retinal vasculopathy with cerebral leukodystrophy Chediak-Higashi syndrome Cockayne syndrome type II Sickle cell - hemoglobin D disease Holoprosencephaly, recurrent [checkrare.com]

Respiratoric

  • Anosmia

    Variegate porphyria Carnitine-acylcarnitine translocase deficiency King Denborough syndrome N syndrome Periventricular heterotopia Naxos disease Alpha-1 antitrypsin deficiency Methionine adenosyltransferase deficiency Myoglobinuria recurrent Congenital anosmia [checkrare.com]

Breast

  • Large Breast

    Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing. Breast Cancer Res Treat. 2012 May;133(1):393–8. [revistamedicinadelaboratorio.es]

Treatment

More Symptoms of Short stature wormian bones dextrocardia » Diagnosis See also related information on diagnosis: Diagnosis of Short Stature Treatments See also the following treatment articles: Treatments for Short Stature Causes See also causal information [familydiagnosis.com]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Treatment. 1. Depending on the type of osteogenesis, treatment will vary extensively. Type I patients may require little or no treatment, whereas type II patients may die before any treatment is begun. [nursekey.com]

Finally, we shall present a review of a few, less frequent dysmorphic syndromes with short stature, in which a growth hormone deficiency has been diagnosed and replacement treatment attempted. © 1995 S. [karger.com]

However, here post treatment endoscopic biopsy was the strongest predictor of OS following treatment, as no pathologic staging statistics was available. [spigogroup.com]

Prognosis

Prognosis Mortality and morbidity are very variable. There is normal life expectancy in type I and it is only slightly reduced in type IV. Where deformity is severe - eg, type III - the patient may lose mobility and become wheelchair-bound. [patient.info]

Prognosis for infants with this disorder is poor. More than 90% of infants will succumb in the first 6 months of life, 5% will survive to 1 year ( Haldeman-Englert et al., 2012b ). 2. [nursekey.com]

Familial occurrences of PHPV have been reported in dizygotic twins, in two brothers, and in a mother and son. 93 Visual prognosis in PHPV is generally guarded. [entokey.com]

Etiology

Etiology. The etiology of 50% to 60% of congenital anomalies is unknown ( Moore and Persaud, 2013 ). [nursekey.com]

Etiology  Unclear etiology  poor development of the jaw at about the 6th to the 11th week of fetal life 10. [slideshare.net]

Epidemiology

Epidemiology The reported incidence is variable, ranging from around 10% (in Caucasian skulls) and 40% (in Indian skulls) to 80% (in Chinese skulls) ref. In general, males are more frequently affected than females ref. [radiopaedia.org]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Epidemiology Incidence is approximately 1/15,000-1/20,000 live births but this may be underestimated, as milder forms can evade diagnosis [ 7 ]. It is the leading cause of lethal short-limbed dwarfism and skeletal dysplasia. [patient.info]

[…] advocacy organizations in the field of rare diseases Rare Disease Day 2018 was a success IRDiRC released its roadmap for 2018 Addressing challenges in the diagnosis and treatment of rare genetic diseases Spotlight on the second edition of “Rare Diseases Epidemiology [irdirc.org]

EPIDEMIOLOGY AND PATHOPHYSIOLOGY A elementary truce of the tumor type on the side of which surgery is planned is noted to optimize the anesthetic manage- ment of the acquiescent. [nhha.org]

Pathophysiology

However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ]. [patient.info]

EPIDEMIOLOGY AND PATHOPHYSIOLOGY A elementary truce of the tumor type on the side of which surgery is planned is noted to optimize the anesthetic manage- ment of the acquiescent. [nhha.org]

Key words: Insulin resistance Pathophysiology Metabolic syndrome El Texto completo está disponible en PDF Bibliografía [1.] G. Reaven. Metabolic syndrome: pathophysiology and implications for management of cardiovascular disease. [revespcardiol.org]

Prevention

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

CREB also binds to Regulator of G Protein Signaling 13 (RGS13), which prevents p300 and CBP binding and, therefore, represses transcription of CREB-responsive genes. [spigogroup.com]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

Prevention In families with known collagen mutations, fetal DNA analysis from chorionic villus biopsy in the first trimester, may be possible. [patient.info]

Treatment is centered around minimizing pain and prevention of future fractures. a. [nursekey.com]

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