A case of Pfeiffer syndrome

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal crani...

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Bibliographic Details
Published in:Journal of Korean medical science 2006-04, Vol.21 (2), p.374-378
Main Authors: Park, Moon Sung, Yoo, Jae Eon, Chung, Jaiho, Yoon, Soo Han
Format: Article
Language:English
Subjects:
Acrocephalosyndactylia - diagnosis
Acrocephalosyndactylia - diagnostic imaging
Acrocephalosyndactylia - genetics
Acrocephalosyndactylia - surgery
Case Report
Female
Humans
Infant, Newborn
Korea
Radiography
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Summary:Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
ISSN:1011-8934
1598-6357
DOI:10.3346/jkms.2006.21.2.374