title: Identity of two syndromes. Proteolytic, lipolytic, and amylolytic deficiency of the exocrine pancreas with congenital anomalies.
abstract: We describe further a patient previously reported to have "proteolytic and lipolytic deficiency of the exocrine pancreas." Features not previously reported include absent permanent teeth, hypoplastic alae nasi, scalp defect, normal thyroid function, and normal gonadotropins. Moreover, the normal amylase activity initially assumed to be of pancreatic origin proves to be of salivary origin. Thus the pancreatic deficiency is not only proteolytic and lipolytic but amylolytic as well. This disorder is identical with the "syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption" subsequently reported by Johanson and Blizzard. The euthyroid status of this patient and that of another described in the literature suggest that hypothyroidism is probably not a major feature of this disorder. Our studies point to deficiency of the exocrine pancreas as the major cause of growth failure.
mesh_terms: D000681:Amylases / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000178:diet therapy / Q000201:enzymology; D006801:Humans; D007223:Infant; D008066:Lipolysis; D010179:Pancreas / Q000002:abnormalities* / Q000201:enzymology; D010447:Peptide Hydrolases / Q000172:deficiency* / Q000627:therapeutic use
chemical_list: D000681:Amylases; D010447:Peptide Hydrolases