A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysis

Clin Dysmorphol. 2012 Apr;21(2):69-73. doi: 10.1097/MCD.0b013e32834ebf24.

Authors

Alan Lawrence Shanske¹, James Tait Goodrich, Leena Ala-Kokko, Brynn Levy

Affiliation

¹ Center for Craniofacial Disorders Department of Neurologic Surgery, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx Department of Pathology, College of Physicians and Surgeons of Columbia University, New York, New York Connective Tissue Gene Tests, Allentown, Pennsylvania, USA.

PMID: 22156914
DOI: 10.1097/MCD.0b013e32834ebf24

No abstract available

Publication types

Case Reports

MeSH terms

Carbohydrate Sulfotransferases
Consanguinity
Craniosynostoses / diagnosis*
Craniosynostoses / genetics*
Facies
Female
Heterozygote
Homozygote
Humans
Infant, Newborn
Oligonucleotide Array Sequence Analysis
Spine / pathology
Sulfotransferases / genetics
Syndrome

Substances

Sulfotransferases