title: Johanson-Blizzard syndrome.
abstract: 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.
authors.affiliation: Department of Pediatric, Al-Thawra Teaching Hospital, 25122 Sana`a, Yemen. al_mashraki@yahoo.com
authors.forename: Nabeel
authors.initials: N
authors.lastname: Almashraki
authors.forename: Mukarram Zainuddin
authors.initials: MZ
authors.lastname: Abdulnabee
authors.forename: Maja
authors.initials: M
authors.lastname: Sukalo
authors.forename: Abdullah
authors.initials: A
authors.lastname: Alrajoudi
authors.forename: Iman
authors.initials: I
authors.lastname: Sharafadeen
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
mesh_terms: D000818:Animals; D001006:Anus, Imperforate; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006130:Growth Disorders; D006319:Hearing Loss, Sensorineural; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D008969:Molecular Sequence Data; D009666:Nose / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D010182:Pancreatic Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D016415:Sequence Alignment
references.citation: J Pediatr Endocrinol Metab. 2004 Aug;17(8):1141-4
references.pmid: 15379429
references.citation: J Pediatr Endocrinol Metab. 2000 Nov-Dec;13(9):1633-6
references.pmid: 11154160
references.citation: Clin Genet. 1993 Feb;43(2):98-100
references.pmid: 8448911
references.citation: Am J Med Genet A. 2008 Jul 15;146A(14):1875-9
references.pmid: 18553553
references.citation: J Pediatr Gastroenterol Nutr. 1989 Nov;9(4):535-8
references.pmid: 2621533
references.citation: HNO. 1998 Oct;46(10):876-8
references.pmid: 9846268
references.citation: Nat Genet. 2005 Dec;37(12):1345-50
references.pmid: 16311597
references.citation: Pediatr Cardiol. 2000 Jul-Aug;21(4):389-90
references.pmid: 10865022
references.citation: J AAPOS. 2009 Oct;13(5):512-4
references.pmid: 19717322
references.citation: J Pediatr. 1971 Dec;79(6):982-7
references.pmid: 5171616
references.citation: Am J Med Genet A. 2008 Dec 1;146A(23):3058-61
references.pmid: 19006206
references.citation: Int J Cancer. 1977 Mar 15;19(3):298-304
references.pmid: 844911
references.citation: Indian J Pediatr. 2004 Dec;71(12):1127-9
references.pmid: 15630323
references.citation: Am J Med Genet. 1990 Apr;35(4):546-51
references.pmid: 2185632
references.citation: J Pediatr. 1994 Sep;125(3):406-8
references.pmid: 8071749
references.citation: Arch Pediatr. 2002 Nov;9(11):1163-5
references.pmid: 12503509
references.citation: Arch Otolaryngol. 1979 Apr;105(4):222-4
references.pmid: 426713
references.citation: Pediatr Dev Pathol. 2007 Jan-Feb;10(1):55-60
references.pmid: 17378628