Johanson--blizzard syndrome.
Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. cafe-au-lait spots.
Kulkarni
M L
ML
Department of Pediatrics, Jagadguru Jayadeva Murugarajendra Medical College, Davangere, India.
Shetty
S K
SK
Kallambella
K S
KS
Kulkarni
P M
PM
D000015:Abnormalities, Multiple; D019080:Cafe-au-Lait Spots / Q000150:complications; D019465:Craniofacial Abnormalities / Q000150:complications; D004476:Ectodermal Dysplasia / Q000150:complications; D017809:Fatal Outcome; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D013577:Syndrome