Mobius Sequence in a Girl and Arthrogryposis in her Half-Brother: Distinct Phenotypes Caused By Prenatal Injuries

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP BORLOT, Felippe FMUSP-HC
PAZ, Jose Albino da FMUSP-HC
GONZALEZ, Claudette Hajaj
LUCATO, Leandro Tavares FMUSP-HC
MARQUES-DIAS, Maria Joaquina FMUSP-HC 2011
dc.identifier.citation FETAL AND PEDIATRIC PATHOLOGY, v.30, n.4, p.260-265, 2011
dc.identifier.issn 1551-3815
dc.description.abstract 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.
dc.language.iso eng
dc.relation.ispartof Fetal and Pediatric Pathology
dc.rights restrictedAccess
dc.subject Mobius sequence; arthrogryposis; maternal bleeding; cocaine; vascular disruption
dc.subject.other supply disruption sequence; brain-stem; multiplex-congenita; vascular etiology; moebius syndrome; 1st trimester; pregnancy; children; misoprostol; ergotamine
dc.title Mobius Sequence in a Girl and Arthrogryposis in her Half-Brother: Distinct Phenotypes Caused By Prenatal Injuries
dc.type article
dc.rights.holder Copyright INFORMA HEALTHCARE LIM/44
dc.identifier.doi 10.3109/15513815.2011.555812
dc.identifier.pmid 21434832
dc.type.category original article
dc.type.version publishedVersion BORLOT, Felippe:FM: PAZ, Jose Albino da:HC:ICR LUCATO, Leandro Tavares:HC:INRAD MARQUES-DIAS, Maria Joaquina:FM:MNE · GONZALEZ, Claudette Hajaj:Univ Sao Paulo, Inst Biociencias, Dept Genet & Evolut Biol, Sao Paulo, Brazil WOS:000292319500008 2-s2.0-79960010538 LONDON ENGLAND
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dc.description.index MEDLINE
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hcfmusp.citation.wos 1 Brasil

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