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Möbius sequence in a girl and arthrogryposis in her half-brother: distinct phenotypes caused by prenatal injuries

Möbius sequence in a girl and arthrogryposis in her half-brother: distinct phenotypes caused by prenatal injuries

Fetal and Pediatric Pathology 30(4): 260-265

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.

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Accession: 054525882

Download citation: RISBibTeXText

PMID: 21434832

DOI: 10.3109/15513815.2011.555812

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