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Titolo:
UNUSUAL TRAITS ASSOCIATED WITH ROBINOW-SYNDROME
Autore:
SABRY MA; ISMAIL EAR; ALNAGGAR RL; ALTORKI NA; FARAH S; ALAWADI SA; OBENBERGEROVA D; BASTAKI L;
Indirizzi:
POB 31145 SULIBIKHAT 90802 KUWAIT MATERN HOSP,CTR MED GENET KUWAIT KUWAIT FARWANIYA HOSP,DEPT PAEDIAT KUWAIT KUWAIT IBN SINA HOSP,NEUROL & RADIOL DEPT KUWAIT KUWAIT
Titolo Testata:
Journal of Medical Genetics
fascicolo: 9, volume: 34, anno: 1997,
pagine: 736 - 740
SICI:
0022-2593(1997)34:9<736:UTAWR>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL HEART-DISEASE; FETAL FACE SYNDROME;
Keywords:
ROBINOW SYNDROME; CONGENITAL HEART DISEASE; JOINT LAXITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
12
Recensione:
Indirizzi per estratti:
Citazione:
M.A. Sabry et al., "UNUSUAL TRAITS ASSOCIATED WITH ROBINOW-SYNDROME", Journal of Medical Genetics, 34(9), 1997, pp. 736-740

Abstract

We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenitalheart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.

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Documento generato il 24/09/20 alle ore 05:21:15