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The Carpenter syndrome phenotype

✍ Scribed by Erkan Tarhan; Haldun Oǧuz; Mustafa Asim Şafak; Erdal Samim

Book ID
116563548
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
150 KB
Volume
68
Category
Article
ISSN
0165-5876

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We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Collagen analysis was normal. These fea