Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The anaesthetic management is described of a nine-month-old male for surgical palliation of the the functional abnormalities associated with Opitz-Frias syndrome. Features of this syndrome of interest to anaesthetists include recurrent pulmonary aspiration of intestinal contents, achalasia of the oesophagus, subglottic stenosis, hypertelorism, micrognathia and a high arched palate. No previous reports of anaesthesia for patients with this condition have been identified.
 ...
PMID:Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. 408 47

We report identical male twins with secretory diarrhea, craniofacial abnormalities often found in G syndrome, hypospadias, and abnormalities of the cholinergic nervous system including achalasia, decreased tearing, corneal hypesthesia, positive Mecholyl test (eye and esophagus), and decreased sweating. The children also lacked fungiform papillae but were clinically distinct from patients with either the Riley-Day syndrome or acquired dysfunction of the autonomic nervous system. Assessment of autonomic nervous system function should be considered in infants with recurrent diarrhea or swallowing disorders or in children with morphologically characteristics suggesting G syndrome.
 ...
PMID:Congenital cholinergic nervous system dysfunction in identical twins. 719 89