Johanson‐Blizzard syndrome in a large inbred kindred with three involved members
Authors:
- 1 November 1978
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 14 (5) , 247-250
Abstract
An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson‐Blizzard syndrome. The infant failed to thrive and had evidence of malabsorption. He died at 4 months of age. The occurrence of extensive consanguinity in his family and the occurrence of two other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene.Keywords
This publication has 10 references indexed in Scilit:
- Exocrine pancreatic insufficiency with congenital anomaliesThe Journal of Pediatrics, 1976
- FRONTONASAL DYSPLASIA WITH ALAR CLEFTS IN TWO SISTERS Genetic Considerations and Surgical CorrectionPlastic and Reconstructive Surgery, 1976
- A RECESSIVE DISORDER WITH GROWTH AND MENTAL RETARDATION, PECULIAR FACIES, ABNORMAL PIGMENTATION, HEPATIC CIRRHOSIS AND AMINOACIDURIAActa Paediatrica, 1974
- A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorptionThe Journal of Pediatrics, 1971
- A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbsThe Journal of Pediatrics, 1971
- Focal Dermal Hypoplasia SyndromeArchives of Dermatology, 1970
- Trypsinogen Deficiency DiseaseArchives of Pediatrics & Adolescent Medicine, 1967
- Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephalyThe American Journal of Medicine, 1966
- Oculodentodigital dysplasiaThe Journal of Pediatrics, 1963
- HEREDITARY DEFORMITIES IN MANJournal of Heredity, 1945