Artículos de revistas
Mobius Sequence in a Girl and Arthrogryposis in her Half-Brother: Distinct Phenotypes Caused By Prenatal Injuries
Fecha
2011Registro en:
FETAL AND PEDIATRIC PATHOLOGY, v.30, n.4, p.260-265, 2011
1551-3815
10.3109/15513815.2011.555812
Autor
BORLOT, Felippe
PAZ, Jose Albino da
GONZALEZ, Claudette Hajaj
LUCATO, Leandro Tavares
MARQUES-DIAS, Maria Joaquina
Institución
Resumen
Mobius sequence is a congenital facial and abducens nerve palsy, frequently associated to abnormalities of extremities. Arthrogryposis multiplex congenital is defined as a congenital fixation of multiple joints seldom of neurogenic origin. Both sequences must have a genetic origin, but usually are sporadic cases related to environmental factors such as drugs exposition and maternal trauma. A 5-year-old girl and a 1-year-old boy were born with Mobius sequence and arthrogryposis multiplex congenital, respectively. During pregnancies, the mother had vaginal bleeding at 7 weeks and used crack (free-based cocaine) in the first trimester, respectively. The girl also has equinovarus talipes and autistic behavior. The boy has arthrogryposis with flexion contractures of the feet and knees. A vascular disruption, due to hemorrhage and cocaine exposure, causing a transient ischemic insult to embryos in a critical period of development may be responsible for distinct phenotypes in these cases.