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Long columella with cleft lip/palate; eye, heart, and intestinal anomalies, and mental retardation.

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Autosomal recessive.

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First reported in 1991 (two cases).

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Unknown.

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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.

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Severe mental retardation, congenital heart defect, cleft lip/palate, malrotation of intestines, displaced kidneys, flat-tipped, bulbous nose, long columella, microphthalmia, iris coloboma.

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Echocardiography to assess cardiac function. Esophageal dysfunction may lead to recurrent aspiration pneumonia.

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As determined by cardiac function. The potential for pulmonary aspiration should be considered (rapid-sequence induction).

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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.

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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]

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