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A congenital multisystem syndrome leading to macrocephaly, cardiac anomalies, osteodysplasia, and hypertrichosis.

Cantu Sanchez Corona Hernandes Syndrome; Craniofaciocardioskeletal Syndrome.

Extremely rare. Fewer than 30 cases have been reported in the literature.

Most cases are sporadic. De novo autosomal dominant as well as X-linked dominant transmission have been discussed. Microdeletions seem to be the most likely cause of this disorder. Phenotypic variability exists. No sexual predilection.

Unknown. Histologic analysis of multiple organs is nonspecific.

Based on the clinical findings of mild mental deficiency and the distinct malformations. Storage disorders must be excluded.

The principle features are short stature, osteochondrodysplasia, macrocephaly with frontal bossing, exophthalmos and hypertelorism, macroglossia, cardiac anomalies (e.g., concentric hypertrophic cardiomyopathy, septal defects, pericardial effusions, and cardiomegaly), joint hyperextensibility, cutis laxa with wrinkled palms and soles, and hypertrichosis. Skeletal anomalies include abnormally small vertebral bodies, wide ribs, narrow chest, and slender long bones. Computed tomography scanning or magnetic resonance imaging of the head may reveal bilateral calcifications of the arteriae thalamostriatae and enlargement of the lateral ventricles and external cerebrospinal fluid spaces. Pyloric stenosis and elevated serum alkaline phosphatase levels have been described. A single case of pulmonary hypertension responsive to steroid therapy has been reported.

Anesthesia care has not been described, although at least one child did undergo cardiac surgery. Cardiomegaly on chest radiographs is indicative of cardiac involvement and requires further evaluation including echocardiography. Airway examination should include oral cavity inspection, as a number of patients have a large, bulky tongue. Mental retardation may result in increased anxiety and limited cooperation. Sedative and anxiolytic premedication and the presence of the primary caregiver during induction of anesthesia may be helpful.

Direct laryngoscopy can be difficult (macroglossia), and spontaneous ventilation must be preserved until the airway has been secured. Consider draining hemodynamically significant pericardial effusions preoperatively (or at least after induction of anesthesia). Vascular access can be difficult in the presence of cutis laxa. Central neuraxial blockade is not contraindicated per se, however, cooperation may be limited (mental retardation) and access difficult due to vertebral anomalies. Care should be taken with regard to intraoperative positioning of patients with hyperelastic joints. Careful protection of the eyes (lubrication and taped shut) must be provided because patients are at high risk for corneal damage due to exophthalmos.

Avoid neuromuscular blockers until the airway has been secured. Subacute bacterial endocarditis prophylaxis may be required.

Costello Syndrome: A syndrome characterized by postnatal growth deficiency, coarse facies, redundant skin on the neck, acanthosis nigricans, developmental delay, and papillomata.

De Barsy Moens Diercks Syndrome: Extremely rare disorder inherited as an autosomal recessive trait. The main characteristics are frontal bossing, large prominent ears, athetosis, cloudy cornea, hypotonia and hyperlaxity of small joints, and/or short stature.

Engels H, Bosse K, Ehrbrecht A, et al: Further case of Cantu ...

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