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A severe polymalformative syndrome involving early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma,
seizures, and mental retardation. Other features include congenital heart
defect (e.g., tetralogy of Fallot, ventricular septal defect, transposition
of great vessels), conductive hearing loss, ear defect, and neurological
function.
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CHIME (Colobomas of the Eye, Heart Defects,
Ichthyosiform Dermatosis, Mental retardation, and Ear Defects)
Syndrome; CHIME Neuroectodermal Dysplasia; Neuroectodermal Syndrome Zunich type;
Zunich-Kaye Syndrome.
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Congenital genetic disorder.
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Unknown; seven case reports worldwide between 1983 and
1997. There are no new cases reported since.
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Clinically evocated by the association of eye, heart,
and ear defect combined with mental retardation and ichthyosis.
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Patients often have feeding difficulties in their
first years of life because of poor coordination of swallowing. Clinical
signs can involve skin (early onset of migratory ichthyosiform dermatosis,
sparse fine hair, thick palms and soles), head (brachycephaly, flat and broad
nasal root, short philtrum, wide mouth, full lips, widely spaced teeth,
occasional cleft palate and bifid uvula), eyes (hypertelorism, epicanthic folds,
retinal colobomas), central nervous system (CNS) (mild cerebral cortical
atrophy, mental retardation, seizures and wide-based gait, conductive hearing
loss with abnormal auditory evoked
potentials), heart (5 of 7 cases between 1983 and 1997 presented with
tetralogy of Fallot, transposition of the great arteries, peripheral pulmonary stenosis,
or ventricular septal defect), kidney (duplicated collecting system, ectopic
renal pelvis, ureteropelvic junction obstruction), and skeleton
(brachydactyly, clinodactyly, broad second toe, occasional club foot). Possible
dysregulation of cell division and immunologic dysfunction. After correction
of their cardiac defect, their general health is usually satisfactory,
except for frequent sinus infections. Exacerbation of seizures and skin rash
occur with puberty, and the pruritus associated with the dermatosis has
resulted in sudden expression of violent behavior. Mental retardation in the
majority of cases, along with the behavioral outbursts, often resulted in
the need for constant supervision.
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A complete medical
history and physical examination should be obtained. It is essential
to assess the airway and any indications of repetitive pulmonary
aspiration and recurrent infections. The presence of associated
cardiac defects as well as history of surgical correction must be
reviewed. When available, a consultation with a cardiologist must be
obtained to assess and determine the cardiac function (e.g.,
echocardiography and if necessary, cardiac catheterization). The
degree of deafness and mental retardation must be evaluated. It is
very important to review the treatment and its efficacy in patients
affected with epilepsy. Blood examination must include a complete
blood cell count because of frequent infections and the possible
association with acute lymphocytic leukemia. Hemoglobin,
electrolytes, and creatinine (renal function is rarely compromised,
but cases of ureteropelvic reflux have been described) must be
measured. Depending on the degree of mental retardation, the use of
sedative premedication may be indicated. The presence of the
patient's care provider in the preoperative area may ...