An unusual distal arthrogryposis

An unusual distal arthrogryposis

We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has cervical vertebral anomalies, scoliosis, short stature, nuchal and axillary pterygia, and unusual facial appearance. The fetuses had a short neck, pterygium colli, retrognath...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics 1985-03, Vol.20 (3), p.425-429
Hauptverfasser: Kawira, Esther Lehman, Bender, Harvey A., Opitz, John M., Reynolds, James F.
Format: Artikel
Sprache:eng
Schlagworte:
Adult
arthrogryposis
Arthrogryposis - classification
Arthrogryposis - genetics
autosomal dominant inheritance
camptodactyly
camptodactyly, familial
Diseases in Twins
distal arthrogryposis
distal arthrogryposis, type II
familial
Female
Humans
Klippel-Feil anomaly
Male
Pregnancy
pterygia
scoliosis
short stature
Twins, Dizygotic
type II
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has cervical vertebral anomalies, scoliosis, short stature, nuchal and axillary pterygia, and unusual facial appearance. The fetuses had a short neck, pterygium colli, retrognathia, and mild apparent scoliosis. We think that these three individuals have a previously undescribed type of distal arthrogryposis.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320200302