Expanded spectrum of findings in Marden-Walker syndrome.
Recently, we examined a small-for-gestational age infant with blepharophimosis, congenital contractures of elbows, hips, and knees, fixed facial expression, and hypotonia. These congenital anomalies are consistent with a diagnosis of the Marden-Walker syndrome. The infant also had an omphalomesenteric duct, left hypoplastic kidney, hypoplastic right lower lobe of the lung, and displacement of the larynx to the right; these anomalies have not been described previously in this syndrome. A summary of the clinical manifestations of the previously reported patients is presented.
Department of Newborn Medicine, Saint Francis Hospital, University of Oklahoma College of Medicine, Tulsa.
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D000015:Abnormalities, Multiple / Q000473:pathology*; D004550:Elbow / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities; D006615:Hip / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007668:Kidney / Q000002:abnormalities; D007717:Knee / Q000002:abnormalities; D007830:Larynx / Q000002:abnormalities; D008168:Lung / Q000002:abnormalities; D008297:Male; D013577:Syndrome