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.