Johanson-Blizzard syndrome with Diamond-Blackfan anemia.
Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Johanson Blizzard syndrome with classical clinical features, pancreatic insufficiency and Diamond-Blackfan anemia.
Saeed
Muhammad
M
Department of Neurology, The Children's Hospital, Al Taif, Kingdom of Saudi Arabia. muhammad964@hotmail.com
Rana
Muhammad Nasir
MN
Ahmad
Tahir Masood
TM
D000015:Abnormalities, Multiple; D029503:Anemia, Diamond-Blackfan / Q000150:complications*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome