title: Möbius sequence in a girl and arthrogryposis in her half-brother: distinct phenotypes caused by prenatal injuries.
abstract: Möbius 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 Möbius 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.
authors: Department of Neurology, Instituto da Criança, São Paulo, SP, Brazil. felippe.borlot@yahoo.com.br
authors: Felippe
authors: F
authors: Borlot
authors: José Albino
authors: JA
authors: da Paz
authors: Claudette Hajaj
authors: CH
authors: Gonzalez
authors: Leandro Tavares
authors: LT
authors: Lucato
authors: Maria Joaquina
authors: MJ
authors: Marques-Dias
mesh_terms: D001176:Arthrogryposis / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D019970:Cocaine-Related Disorders / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020331:Mobius Syndrome / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D011247:Pregnancy; D011248:Pregnancy Complications; D011261:Pregnancy Trimester, First; D011297:Prenatal Exposure Delayed Effects; D049188:Prenatal Injuries / Q000473:pathology* / Q000503:physiopathology*; D035781:Siblings