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Craniofacial dysmorphism with iris coloboma, agenesis of the corpus callosum, and aortic arch dilatation with aortic valve regurgitation. Patients present with moderate mental retardation.

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Congenital disorder. First described by S. Temtamy et al. in 1991.

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Autosomal recessive.

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Unknown. A connective-tissue abnormality has been shown on electron microscopy with wide intercellular spaces and thickening of collagen fibers.

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Demonstration of clinical features of the syndrome, that is, craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation.

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Facial features described include macrodolichocephaly, arched eyebrows, antimongoloid eye slant, beaked nose, low-set ears, lop ears, long philtrum, short upper lip, micrognathia, and hypertelorism. Coloboma of the iris (“keyhole” appearance), retina, and choroid are present, and lens dislocation may occur. Mental retardation is present and the absence of the corpus callosum can be demonstrated radiographically. Connective-tissue dysplasia is a feature of the syndrome and results in aortic dilatation and aortic regurgitation.

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Careful airway assessment and planning for a potentially difficult airway. Cardiovascular assessment is very important and must include an ECG, echocardiogram, and eventually a catheterization. Examine for signs of aortic regurgitation and ventricular impairment. Laboratory investigations as indicated by procedure and current drug therapy.

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Potentially difficult airway. Mental retardation may result in behavioral problems during induction of anesthesia and premedication may be helpful. Aortic regurgitation and impaired ventricular function are the main concerns. Aim to maintain sinus rhythm, minimize myocardial depression, maintain left ventricular filling, and reduce systemic vascular resistance. Invasive monitoring should be considered. The place of regional anesthesia is controversial, especially if ventricular function is impaired.

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Ketamine is relatively contraindicated.

Temtamy S, Salam M, Aboul-Ezz E, et al: New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas, and connective tissue dysplasia. Clin Dysmorphol 5(3):231, 1996.  [PubMed: 8818452]

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