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Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

✍ Scribed by Andersson, Hans C. ;Kratz, Lisa ;Kelley, Richard


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
99 KB
Volume
113
Category
Article
ISSN
0148-7299

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## Abstract We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT‐proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. U