Situs anomalies present a diagnostic challenge to radiologists because of the overlapping spectrum of findings commonly seen in asplenia and polysplenia. [ncbi.nlm.nih.gov]

In 18 patients (64.3%) there were 2 balanced ventricles; of the other 10 patients, 9 (32.1%) presented right and 1 (3.6%) left ventricular dominance. Ventricular septal defect was present in 12 cases (42.8%). [moh-it.pure.elsevier.com]

In her adulthood, echocardiogram presented left atrial isomerism and dextrocardia, interruption of the inferior vena cava, atrioventricular septal defect (partial presentation), patent arterial duct with aortopulmonary shunt. [rb.org.br]

• Rhinitis

  Abnormal ciliary function is associated with a wide variety of human diseases including recurrent sinusitis, rhinitis, and bronchitis (immotile cilia syndrome), infertility, hydrocephalus, anosmia, and retinitis pigmentosa. 16, 17 The majority of these [nature.com]

• Anosmia

  Abnormal ciliary function is associated with a wide variety of human diseases including recurrent sinusitis, rhinitis, and bronchitis (immotile cilia syndrome), infertility, hydrocephalus, anosmia, and retinitis pigmentosa. 16, 17 The majority of these [nature.com]

• Short Fifth Finger

  In addition, she had cerebral atrophy, hypertelorism with telecanthus, infraorbital skin furrows, ear-lobe grooves, prominent maxilla and teeth, large carp mouth, short fifth fingers with limited flexion, generalized hypotonicity, and severe psychomotor [ncbi.nlm.nih.gov]

The 34 patients were divided into two groups on the basis of their gastrointestinal workup for suspected IRFA. The 28 patients in group A had no upper gastrointestinal (GI) contrast study performed prior to symptoms suggestive of IRFA. [ncbi.nlm.nih.gov]

A minimal workup should include 1 : chest radiograph echocardiogram: to assess for congenital heart disease abdominal ultrasound: to assess intra-abdominal contents (especially spleen) upper GI series: to rule out malrotation Treatment and prognosis Treatment [radiopaedia.org]

Prophylactic surgery for malrotation is not beneficial in asymptomatic patients, and this is well described in existing literature. [8] The diagnostic workup of cases with suspected PCD requires a thorough clinical and physical examination along with [ijabmr.org]

[…] catastrophe, such as midgut or gastric volvulus, also undergo plain radiography as part of their initial diagnostic imaging examination. [21, 22] On the other hand, patients with biliary atresia do not undergo plain radiography as part of their initial workup [emedicine.medscape.com]

• Thrombocytosis

  Thrombocytosis in asplenia syndrome with congenital heart disease: a previously unrecognized risk factor for thromboembolism. Int J Cardiol. 2013;167:2259–63. CrossRef PubMed Google Scholar 32. Nagel BHP, Williams H, Stewart L, Paul J, Stümper O. [doi.org]

She had been treated for gastritis and duodenal ulcer 3 years previously and she had voluntarily stopped treatment. She constantly had the symptom of dyspepsia, but she had not received medical treatment for this. [synapse.koreamed.org]

Typically, treatment consists of prophylactic antibiotics and immunizations. 10 Malrotation of the intestinal tract can be surgically treated. [appliedradiology.com]

Appropriate treatment of midgut volvulus will reduce morbidity and mortality. [ncbi.nlm.nih.gov]

The treatment of Heterotaxy Syndrome may include medications and/or surgery to correct malformations The prognosis of Heterotaxy Syndrome is dictated by the severity of malformations. [dovemed.com]

Prognosis is generally poor in those affected with cardiac abnormalities. [appliedradiology.com]

LAI is usually associated with other cardiac malformations of different complexity, which are the main determinants of prognosis; only a minority of patients have mild disease, are asymptomatic into adult life and are diagnosed incidentally. [em-consulte.com]

Elucidation of the molecular-genetic mechanisms of left-right development will greatly increase our understanding of the etiology of this complex group of congenital heart defects. [ncbi.nlm.nih.gov]

Despite extensive diagnostic procedures, the cause of the laterality sequence disruption remains unclear, indicating its multifactorial etiology. [content.iospress.com]

Reasons for Referral: Confirm a clinical diagnosis for a genetic etiology for heterotaxia Carrier testing Positive family history Methodology: Next generation sequencing will analyze the exons or coding regions of 15 Heterotaxia-associated genes using [knightdxlabs.ohsu.edu]

Etiology In patients with heterotaxia, mutations have been identified in several genes ( LEFTY A, ACVR2B, NODAL, CFC1, INVERSINE ). All patients were heterozygous (neither compound heterozygous nor homozygous). [orpha.net]

Eva Bermejo and María Luisa Martínez-Frías, Prevention, Diagnosis and Services, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_4, (55-75), (2010). Jennifer L. Kornosky and Hamisu M. [doi.org]

An epidemiological analysis of heterotaxia‐asymmetry in children born to diabetic mothers (diabetes mellitus or gestational diabetes) is presented here. The analysis is based in the case‐control study of the ECEMC database. [onlinelibrary.wiley.com]

An epidemiological analysis of heterotaxia-asymmetry in children born to diabetic mothers (diabetes mellitus or gestational diabetes) is presented here. The analysis is based in the case-control study of the ECEMC database. [ncbi.nlm.nih.gov]

Summary Epidemiology The incidence of all lateralization defects is approximately 1/15 000. Clinical description The severity of malformations is highly variable among members of a family. Complete situs inversus is not, in itself, a problem. [orpha.net]

Bronchial tree and lungs [ edit ] Pathophysiology in the bronchial tree can be observed by radiography. [en.wikipedia.org]

Bronchial tree and lungs Pathophysiology in the bronchial tree can be observed by radiography. [ipfs.io]

We propose that evaluating patients with heterotaxia syndrome for IRFA while asymptomatic may prevent the need for emergency abdominal surgery in patients that have major cardiovascular anomalies. [ncbi.nlm.nih.gov]

Eva Bermejo and María Luisa Martínez-Frías, Prevention, Diagnosis and Services, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_4, (55-75), (2010). Jennifer L. Kornosky and Hamisu M. [doi.org]

In studies to determine the cause of these mutations, Nanette Nascone-Yoder and co-workers found that the compound also prevents normal blood-vessel formation and prevents cells from migrating by increasing cellular adhesion. [chemistryviews.org]