Fraser syndrome, a potential cause of respiratory failure in a newborn

Fraser syndrome is a rare autosomal recessive disorder comprising cryptophtalmus, syndactyly and genital abnormalities. The diagnosis is usually made at birth from the obvious malformations, occasionally made on prenatal ultrasound. It is rare and is associated with various types of laryngeal abnorm...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology extra 2011-12, Vol.6 (4), p.306-309
Main Authors: Akcan, Abdullah Barış, Kul, Mustafa, Çelikel, Fatih, Gönül, Erdoğan, Cincik, Hakan, Aydemir, Gökhan, Karademir, Ferhan, Süleymanoğlu, Selami
Format: Article
Language:English
Subjects:
Cryptophtalmus
Fraser syndromel
Laryngeal web
Syndactyly
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Summary:Fraser syndrome is a rare autosomal recessive disorder comprising cryptophtalmus, syndactyly and genital abnormalities. The diagnosis is usually made at birth from the obvious malformations, occasionally made on prenatal ultrasound. It is rare and is associated with various types of laryngeal abnormalities such as subglottic stenosis, laryngeal webbing or atresia. We herein report an infant who presented with respiratory failure in neonatal intensive care unit and diagnosed as Fraser syndrome with laryngeal web that had not been recognized in prenatal period.
ISSN:1871-4048
1871-4048
DOI:10.1016/j.pedex.2011.02.004