[Johanson-Blizzard syndrome: a case report and importance of genetic counseling]

ABSTRACT

Johanson-Blizzard syndrome is one of the rare forms of ectodermal dysplasia. The main manifestations are nasal alar hypoplasia, ectodermal scalp defects, growth retardation, varying degree of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. Focusing on these diverse clinical manifestations, with so many differential diagnoses for each sign, reveals the importance of genetic counseling in patients with multiple diverse clinical sign and symptoms