Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + At a Glance Download Section PDF Listen ++ Long columella with cleft lip/palate; eye, heart, and intestinal anomalies, and mental retardation. + Genetic Inheritance Download Section PDF Listen ++ Autosomal recessive. + History Download Section PDF Listen ++ First reported in 1991 (two cases). + Pathophysiology Download Section PDF Listen ++ Unknown. + Diagnosis Download Section PDF Listen ++ The presence of multiple congenital anomalies with coloboma of the iris, cardiac defects (atrial and/or and ventricular septal defects, tetralogy of Fallot), mental retardation, urogenital and ear abnormalities, and facial cleft will point to the diagnosis. Recurrent episodes of bowel obstruction. Abnormal EEG. + Clinical Aspects Download Section PDF Listen ++ Severe mental retardation, congenital heart defect, cleft lip/palate, malrotation of intestines, displaced kidneys, flat-tipped, bulbous nose, long columella, microphthalmia, iris coloboma. + Precautions before Anesthesia Download Section PDF Listen ++ Echocardiography to assess cardiac function. Esophageal dysfunction may lead to recurrent aspiration pneumonia. + Anesthetic Considerations Download Section PDF Listen ++ As determined by cardiac function. The potential for pulmonary aspiration should be considered (rapid-sequence induction). ++ Patient cooperation may be limited secondary to mental retardation. Sedative and/or anxiolytic premedication and presence of the primary caregiver for induction of anesthesia may be helpful. + Pharmacological Implications Download Section PDF Listen ++ Subacute bacterial endocarditis prophylaxis may be indicated. + References Download Section PDF Listen ++Kapur S, Toriello HV: Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart and intestine anomalies. Am J Med Genet 41:423, 1991. [PubMed: 1776630]