An inherited polymalformative syndrome characterized by pterygium colli, anomalies of fingers and toes, and mental retardation.
Pterygium Colli, Mental Retardation, and Digital Anomalies Syndrome.
This medical condition was first described by M. M. Khalifa and G. Graham in 1994.
The exact incidence remains unknown.
One reported case in the literature. It is presumed either autosomal dominant or X-linked inheritance pattern.
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.
Other conditions to be considered
Noonan Syndrome: Relatively common medical condition characterized by congenital heart defect including a pulmonary valve stenosis, atrial septal defect and hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and facial features described as a pterygium colli, and a flat nose bridge. The incidence of the disease is estimated at 1:1,000 to 2,500 births worldwide. It is one of the most common genetic syndromes associated with congenital heart disease with Down Syndrome. The variability with the range and severity of features can vary greatly in patients with Noonan Syndrome (NS). It is not always identified at an early age. It was named after Jacqueline Noonan, a pediatric cardiologist, in 1971 while she worked at the University of Kentucky. She also first described the Hypoplastic Left Heart Syndrome. It is referred to as the male version of Turner’s Syndrome.
Isolated Pterygium Colli Syndrome: Characterized by low posterior hairline, protruding ears with an uplifted lower pinna bilaterally, loose facial skin, pterygium colli, epicanthal folds, and a short nose. It was first described by J.M. Graham and D.W. Smith in 1981 in an 11-week-old infant evaluated for possible XO Turner Syndrome because of the presence of a pterygium colli.
LEOPARD Syndrome (Noonan Syndrome with Multiple Lentigines; Multiple Lentigines Syndrome): An acronym that stands for Lentigines (multiple black or dark brown spots on the skin); Electrocardiographic conduction defects; Ocular hypertelorism; Pulmonary stenosis; Abnormalities of ...