Congenital cataract with epimetaphyseal
dysplasia and facial anomalies.
Epimetaphyseal Dysplasia with Cataract.
One reported case. Mode of
Peculiar, “old-looking,” face with small mouth
opening, small jaw with hypoplastic mandibular rami, small and irregular
teeth, narrow, sharp nose, and cataracts in both eyes. The chest was small with
protruding sternum and scapulae. Lumbar lordosis was present, but no kyphoscoliosis. The extremities were
relatively long and thin, with large hands and feet and muscle tone
was decreased. Skeletal radiographs
showed marked, generalized epiphyseal and metaphyseal ossification
disturbances. Mental and developmental delay were present.
The electrocardiogram showed signs of right ventricular hypertrophy. All laboratory investigations were normal except for elevated
gonadotropins and sustained elevation of blood glucose levels after glucose
The facial abnormalities could make airway
management difficult. Micrognathia and a small mouth opening may interfere with
laryngoscopy. The cause of the right ventricular hypertrophy is
unknown. Congenital heart defects and pulmonary hypertension resulting from
an abnormally shaped chest are two possibilities. The exact cause needs to
be determined prior to anesthesia and surgery. Significant lumbar lordosis
and skeletal abnormalities make proper positioning more difficult, and
special attention must be paid to careful padding of susceptible pressure points.
Patients with glucose intolerance may develop overt diabetes mellitus
perioperatively and require insulin therapy to maintain normal blood glucose
Kozlowski K, Rafinski T, Kucharska K: Metaphyseal and epiphyseal
dysplasia with unusual facies and cataract. Am J Dis Child