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June 1974

Picture of the Month

Author Affiliations

Boston; Santa Clara, Calif
From the Permanente Medical Group, Santa Clara, Calif.

Am J Dis Child. 1974;127(6):873-874. doi:10.1001/archpedi.1974.02110250099014

Denouement and Discussion 

Cerebro-Hepato-Renal Syndrome (Zellweger and Bowen Syndrome) 

Manifestations  Major manifestations include severe hypotonia, classical facial appearance, neonatal jaundice, hepatomegaly, failure to thrive, mentalmotor retardation, and short life span. The distinctive facies consists of a high forehead, brachycephaly, persistence of the metopic suture, rounded face, apparent ocular hypertelorism with hypoplastic supraorbital ridges, and micrognathia. The ears are usually low-set with abnormal helices. Glaucoma, corneal clouding, epicanthal folds, Brushfield spots, and nystagmus are frequent ocular findings. Congenital heart disease, usually patent ductus arteriosus or septal defects, may also be present. Neurologically, these patients respond very poorly and frequently require tube feedings because of extremely poor sucking and swallowing reflexes. The spleen is occasionally enlarged. Skeletal abnormalities consist of camptodactyly, metatarsus adductus, cubitus valgus, and club feet.Laboratory findings include hypoprothrombinemia that may lead to bleeding episodes. Other findings are abnormal liver function test values, albuminuria, elevated serum iron level and iron-binding capacity, and hemosiderosis and iron deposition in the

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