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An inherited polymalformative syndrome characterized by pterygium colli, anomalies of fingers and toes, and mental retardation.

Pterygium Colli, Mental Retardation, and Digital Anomalies.

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 retardation.

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 of edemas. 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 52:55, 1994.  [PubMed: 7977463]

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