Abstract
The dysmorphic features of a child with the Johanson-Blizzard syndrome are discussed.
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Selected References
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- Day D. W., Israel J. N. Johanson--Blizzard syndrome. Birth Defects Orig Artic Ser. 1978;14(6B):275–287. [PubMed] [Google Scholar]
- Johanson A., Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr. 1971 Dec;79(6):982–987. doi: 10.1016/s0022-3476(71)80194-4. [DOI] [PubMed] [Google Scholar]
- Mardini M. K., Ghandour M., Sakati N. A., Nyhan W. L. Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet. 1978 Nov;14(5):247–250. doi: 10.1111/j.1399-0004.1978.tb02141.x. [DOI] [PubMed] [Google Scholar]
- Morris M. D., Fisher D. A. Trypsinogen deficiency disease. Am J Dis Child. 1967 Aug;114(2):203–208. doi: 10.1001/archpedi.1967.02090230133019. [DOI] [PubMed] [Google Scholar]
- Schussheim A., Choi S. J., Silverberg M. Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr. 1976 Nov;89(5):782–784. doi: 10.1016/s0022-3476(76)80806-2. [DOI] [PubMed] [Google Scholar]
- Townes P. L. Proteolytic and lipolytic deficiency of the exocrine pancreas. J Pediatr. 1969 Aug;75(2):221–228. doi: 10.1016/s0022-3476(69)80392-6. [DOI] [PubMed] [Google Scholar]
- Townes P. L., White M. R. Identity of two syndromes. Proteolytic, lipolytic, and amylolytic deficiency of the exocrine pancreas with congenital anomalies. Am J Dis Child. 1981 Mar;135(3):248–250. [PubMed] [Google Scholar]