Johanson-Blizzard syndrome.
نویسندگان
چکیده
1 Full Professor of Otorhinolaryngology Health Sciences Center Federal University of Espirito Santo (UFES). Head of the Specialized Medicine Health Sciences Center Federal University of Espirito Santo (UFES) and Head of the ENT Department Cassiano Antônio de Moraes University Hospital (HUCAM). 2 MD. ENT ABORL-CCF. Preceptor at the ENT Clinic University of São Paulo Medical School (FMUSP). 3 MSc in ENT and PhD in Medicine Federal University of São Paulo Medical School (EPM-UNIFESP). MD; ENT in Vitória, ES. 4 MD, Neuropediatrician Cassiano Antônio de Moraes University Hospital (HUCAM). 5 ENT Resident University of São Paulo Medical School (FMUSP). Serviço de Otorrinolaringologia do Hospital Universitário “Cassiano Antonio de Moraes” Centro de Ciências da Saúde da Universidade Federal do Espírito Santo. Send correspondence to: Prof. Dr. Sergio Ramos Av. Saturnino de Brito 256 Enseada do Suá Vitória ES 29050-385. Tel. (0xx27) 3345-1600 Fax (0xx27) 3345-0195 Paper submitted to the BJORL-SGP (Publishing Management System – Brazilian Journal of Otorhinolaryngology) on July 24, 2006; and accepted on May 15, 2010. cod. 3295 CASE REPORT Braz J Otorhinolaryngol. 2010;76(6):794. BJORL
منابع مشابه
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 Joh...
متن کامل[Johanson-Blizzard syndrome: the importance of differential diagnostic in pediatrics].
OBJECTIVE To promote a clinical entity that could be part of differential diagnosis of most disorders that affect the pediatric age group. DESCRIPTION We describe a Brazilian girl affected by Johanson-Blizzard syndrome and review the literature. COMMENTS Johanson-Blizzard syndrome is an autosomal recessive condition characterized by hypoplastic alae nasi, scalp defect, deafness and pancreat...
متن کاملJohanson-Blizzard syndrome.
In 1971 Johanson and Blizzard' reported a new syndrome in three unrelated girls characterised by congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. Children with this syndrome had been described earlier by Morris and Fisher in 19672 and Townes in 19693 as examples of trypsinogen deficiency disease. Townes and White4 subsequently r...
متن کاملJohanson-Blizzard Syndrome: A Rare Case Report
Several of the anatomic malformations are difficult to diagnose. A group of population has characteristic anatomic changes but even in this group the diagnosis may not be considered, if one or more of the major features are present. The Johanson-Blizzard syndrome has distinctive craniofacial changes that should be easily recognized. It is an autosomal recessive condition characterized by typica...
متن کاملJohanson-Blizzard syndrome: A challenge in nasal reconstruction.
Johanson-Blizzard syndrome is rare and involves multiple congenital anomalies, including bilateral absence or deficiency of the nasal alae, giving the affected infant a characteristic appearance. Two cases are described that illustrate the difficulties of nasal reconstruction in young children. Surgical options and the timing of intervention are discussed.
متن کاملExpanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis
BACKGROUND Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway. METHODS Molecular findings in a total of 65 unrelated patients with ...
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ورودعنوان ژورنال:
- Brazilian journal of otorhinolaryngology
دوره 76 6 شماره
صفحات -
تاریخ انتشار 2010