Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pallister-Killian syndrome (PKS) is a rare mosaic genetic disorder defined by the presence of isochromosome for the short arm of chromosome 12. The authors report 2 new cases of PKS with prenatal diagnosis of tetrasomy 12p made by cytogenetic study of amniocytes. Typical dysmorphic craniofacial features were noted postnatally. Both newborns were referred to a surgical department because of congenital anomalies requiring operative management. One had an imperforate anus with an anocutaneous fistula and underwent minor anorectoplasty on day 2 of life. The second newborn required emergency laparotomy because of malrotation with midgut volvulus. This is the first report of clinical manifestation of malrotation in a patient with PKS. The authors undertook a detailed review of reported to date cases of PKS with special emphasis on its surgical aspects.
 ...
PMID:Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects. 1855 13

Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgitation and vomiting which may lead to aspiration pneumonia, abdominal pain, distention, and constipation. We present a 19-year-old male diagnosed with ATR-X syndrome, who suffered from recurrent colonic volvulus that ultimately led to bowel necrosis with severe septic shock requiring emergent surgical intervention. During 1 year, the patient was readmitted four times due to poor oral intake, dehydration and abdominal distention. Investigation revealed partial small bowel volvulus which resolved with non-operative treatment. Small and large bowel volvulus are uncommon and life-threatening gastrointestinal manifestations of ATR-X patients, which may contribute to the common phenomenon of prolonged food refusal in these patients.
 ...
PMID:Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature. 2617 13