Fetal akinesia deformation sequence: expanding the phenotypic spectrum.

Nayak, Shalini S; Kadavigere, Rajagopal; Mathew, Mary; Kumar, Pratap; Hall, Judith G; Girisha, Katta M

Nayak, Shalini S; Kadavigere, Rajagopal; Mathew, Mary; Kumar, Pratap; Hall, Judith G; Girisha, Katta M.

Affiliation

Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Karnataka, India.

Am J Med Genet A ; 164A(10): 2643-8, 2014 Oct.

Article in En | MEDLINE | ID: mdl-25045026

Subject(s)

Abnormalities, Multiple/genetics; Arthrogryposis/genetics; Cerebellar Diseases/genetics; Cleft Palate/genetics; Female; Fetus; Humans; Phenotype

Key words

Purkinje cells; arthrogryposis multiplex congenita; autopsy; bulbous tips of digits; caudal appendage; cerebellar hypoplasia; cleft palate; fetal finger pads; fetal hypokinesia sequence; multiple congenital contractures; multiple pterygium; prominent digit pad; ventriculomegaly; webbing of neck

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Abnormalities, Multiple Limits: Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: India

Fulltext

XML

PubMed Links

Search on Google