Craniofacial dysmorphism with iris coloboma, agenesis
of the corpus callosum, and aortic arch dilatation with aortic
valve regurgitation. Patients present with moderate mental retardation.
Congenital disorder. First described by S. Temtamy et al.
Unknown. A connective-tissue abnormality has been
shown on electron microscopy with wide intercellular spaces and thickening
of collagen fibers.
Demonstration of clinical features of the syndrome, that
is, craniofacial dysmorphism with ocular coloboma, absent corpus callosum,
and aortic dilatation.
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
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.
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.
Ketamine is relatively
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