Case Report
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World J Gastroenterol. Oct 7, 2011; 17(37): 4247-4250
Published online Oct 7, 2011. doi: 10.3748/wjg.v17.i37.4247
Johanson-Blizzard syndrome
Nabeel Almashraki, Mukarram Zainuddin Abdulnabee, Maja Sukalo, Abdullah Alrajoudi, Iman Sharafadeen, Martin Zenker
Nabeel Almashraki, Mukarram Zainuddin Abdulnabee, Abdullah Alrajoudi, Iman Sharafadeen, Department of Pediatric, Al-Thawra Teaching Hospital, 25122 Sana`a, Yemen
Martin Zenker, Maja Sukalo, Institute of Human Genetics, University Hospital, Magdeburg, Leipziger Str. 44, 39120 Magdeburg, Germany
Author contributions: Almashraki N, Abdulnabee MZ, Alrajoudi A, Sharafadeen I designed the study and collected clinical data; Sukalo M and Zenker M performed the molecular genetic analysis; Almashraki N, Abdulnabee MZ and Zenker M wrote the paper.
Correspondence to: Nabeel Almashraki, MD, Department of Pediatric, Al-Thawra Teaching Hospital, PO Box, 25122 Sana`a, Yemen.
Telephone: +967-01-711731632 Fax: +967-01-486642
Received: January 22, 2011
Revised: March 2, 2011
Accepted: March 9, 2011
Published online: October 7, 2011

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 cases of this syndrome have been reported to date. We describe the case of a male infant with typical symptoms of JBS. In addition, a new clinical feature which has not previously been documented, that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed. A molecular study was performed which revealed a novel homozygous UBR1 mutation. Possible explanations for this new association are discussed.

Keywords: Alae nasi aplasia, Anemia, Cutis aplasia, Exocrine pancreatic insufficiency, Johanson-Blizzard syndrome