Johanson-Blizzard Syndrome with Short Stature
نویسندگان
چکیده
منابع مشابه
Johanson-Blizzard syndrome.
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...
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 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 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: dental findings and management.
AIM Oral rehabilitation of a child with Johanson-Blizzard syndrome (JBS). BACKGROUND JBS is an extremely rare inherited disorder characterized by unusually small nose that appears 'beak shaped' due to the absence (aplasia) or underdevelopment (hypoplasia) of the nostrils (nasal alae), abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth, he...
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ژورنال
عنوان ژورنال: Journal of Nepal Paediatric Society
سال: 2016
ISSN: 1990-7982,1990-7974
DOI: 10.3126/jnps.v35i3.13109