An inherited polymalformative syndrome
characterized by pterygium colli, anomalies of fingers and toes, and mental
Pterygium Colli, Mental Retardation, and Digital
Exact incidence unknown. One
reported case. Presumed autosomal dominant or X-linked inheritance.
In the one reported case, craniofacial
abnormalities included brachycephaly, inverted epicanthal folds, angulated
eyebrows, severe webbing of the neck (pterygium colli), up-slanting of the
palpebral fissures, ptosis, hypertelorism, and prominent, low-set ears
rotated posteriorly. The hands and feet were edematous at birth, but this resolved
soon after. Hypotonia was present at birth.
At the age of 18 years the patient had proximally displaced small
thumbs, widened interphalangeal joints, and broad terminal phalanges.
The patient suffered from mental
Potential for difficult airway
management should always be considered in patients with craniofacial
abnormalities. In this patient, a short webbed neck may make visualization
of the larynx difficult. Difficult placement of a peripheral venous cannula should be expected in the presence
Developmentally delayed patients may lack the ability to cooperate.
Khalifa MM, Graham G: New dominant syndrome of pterygium colli, mental
retardation, and digital anomalies. Am J Med Genet