A congenital multisystem syndrome leading to
macrocephaly, cardiac anomalies, osteodysplasia, and hypertrichosis.
Cantu Sanchez Corona Hernandes 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
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
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
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 ...