Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?

Clin Dysmorphol. 2010 Oct;19(4):175-180. doi: 10.1097/MCD.0b013e3283398730.

Authors

Jennifer Vassel¹, Rosemarie Rupps, Deborah Krakow, Narman Puvanachandra, Jane A Gardiner, Sharon R Lazeo, Cornelius F Boerkoel

Affiliation

¹ Rare Disease Foundation Provincial Medical Genetics Program Department of Medical Genetics, Child and Family Research Institute Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver Klondike Medical Clinic, Whitehorse, Yukon Territory, Canada Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, California, USA.

PMID: 20717009
DOI: 10.1097/MCD.0b013e3283398730

No abstract available

Publication types

Case Reports

MeSH terms

Contractile Proteins / genetics
Female
Fetal Alcohol Spectrum Disorders / diagnostic imaging
Fetal Alcohol Spectrum Disorders / pathology*
Filamins
Humans
Infant, Newborn
Microfilament Proteins / genetics
Mutation
Pregnancy
Radiography
Syndrome
Synostosis / pathology*
Tarsal Bones / abnormalities*

Substances

Contractile Proteins
Filamins
Microfilament Proteins