Johanson-Blizzard syndrome: A challenge in nasal reconstruction.
نویسندگان
چکیده
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.
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 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 ...
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: 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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عنوان ژورنال:
- The Canadian journal of plastic surgery = Journal canadien de chirurgie plastique
دوره 12 2 شماره
صفحات -
تاریخ انتشار 2004