Mobius Sequence in a Girl and Arthrogryposis in her Half-Brother: Distinct Phenotypes Caused By Prenatal Injuries
Nenhuma Miniatura disponível
Citações na Scopus
2
Tipo de produção
article
Data de publicação
2011
Editora
INFORMA HEALTHCARE
Indexadores
Título da Revista
ISSN da Revista
Título do Volume
Autores
GONZALEZ, Claudette Hajaj
Autor de Grupo de pesquisa
Editores
Coordenadores
Organizadores
Citação
FETAL AND PEDIATRIC PATHOLOGY, v.30, n.4, p.260-265, 2011
Resumo
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.
Palavras-chave
Mobius sequence, arthrogryposis, maternal bleeding, cocaine, vascular disruption
Referências
- Leong S, 1997, NEUROTOXICOL TERATOL, V19, P265, DOI 10.1016/S0892-0362(97)00020-2
- DCRUZ OF, 1993, J CHILD NEUROL, V8, P260
- Harden CL, 2009, EPILEPSIA, V50, P1237, DOI 10.1111/j.1528-1167.2009.02129.x
- Dolovich LR, 1998, BRIT MED J, V317, P839
- BANKER BQ, 1986, HUM PATHOL, V17, P656, DOI 10.1016/S0046-8177(86)80177-0
- BAVINCK JNB, 1986, AM J MED GENET, V23, P903, DOI 10.1002/ajmg.1320230405
- CLARREN SK, 1983, J NEUROL SCI, V58, P89, DOI 10.1016/0022-510X(83)90112-0
- FEDERMAN R, 1975, J ORAL SURG, V33, P676
- FEDRIZZI E, 1993, PEDIATR NEUROL, V9, P343, DOI 10.1016/0887-8994(93)90102-I
- GONZALEZ CH, 1993, AM J MED GENET, V47, P59, DOI 10.1002/ajmg.1320470113
- Gonzalez CH, 1998, LANCET, V351, P1624, DOI 10.1016/S0140-6736(97)12363-7
- GOVAERT P, 1989, PEDIATRICS, V84, P570
- Graf WD, 1997, J CHILD NEUROL, V12, P225
- Sells JM, 1996, PEDIATRICS, V97, P225
- Hall JG, 1997, J PEDIATR ORTHOP B, V6, P159
- HALL JG, 1981, PEDIATR ANN, V10, P15
- Hall JG, 1996, AM J MED GENET, V63, P293, DOI 10.1002/(SICI)1096-8628(19960503)63:1<293::AID-AJMG48>3.0.CO;2-G
- HUGHES HE, 1988, J MED GENET, V25, P396, DOI 10.1136/jmg.25.6.396
- KANKIRAWATANA P, 1993, PEDIATR NEUROL, V9, P71, DOI 10.1016/0887-8994(93)90016-6
- LIPSON AH, 1989, TERATOLOGY, V40, P339, DOI 10.1002/tera.1420400406
- Maalouf E F, 1997, Eur J Paediatr Neurol, V1, P183, DOI 10.1016/S1090-3798(97)80056-6
- Marques-Dias MJ, 2003, BIRTH DEFECTS RES A, V67, P1002, DOI 10.1002/bdra.10144
- Mobius PJ, 1888, MUNCHEN MED WOCHEN, V35, P91
- PUHO EH, 2007, CLEFT PALATE-CRAN J, V4, P194
- Smets K, 2004, J CHILD NEUROL, V19, P398, DOI 10.1177/088307380401900518
- STCHARLES S, 1993, AM J MED GENET, V47, P289
- Stern WG, 1923, J AMER MED ASSOC, V81, P1507
- THAKKAR N, 1977, ARCH NEUROL-CHICAGO, V34, P124
- Wong V, 1997, BRAIN DEV-JPN, V19, P187, DOI 10.1016/S0387-7604(96)00557-8
- Yoon KH, 1997, PEDIATR RADIOL, V27, P150, DOI 10.1007/s002470050088