++
Long columella with cleft lip/palate; eye, heart, and
intestinal anomalies, and mental retardation.
++
++
First reported in 1991 (two cases).
++
++
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.
++
Severe mental retardation, congenital heart
defect, cleft lip/palate, malrotation of intestines, displaced
kidneys, flat-tipped, bulbous nose, long columella, microphthalmia, iris
coloboma.
++
Echocardiography to assess cardiac
function. Esophageal dysfunction may lead to recurrent aspiration pneumonia.
++
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.
++
Subacute bacterial endocarditis prophylaxis may be indicated.
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]