Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
AbstractWe studied 21 patients with Sanjad-Sakati syndrome [SSS] from 16 families. Parental consanguinity was recorded in 2 families [12.5%]. All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp [155-166del] in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers
Naguib, K.K., Gouda, S.A., Elshafey, A., Mohammed, F., Bastaki, L. et al. (2009). Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. EMHJ - Eastern Mediterranean Health Journal, 15 (2), 345-352, 2009 http://www.who.int/iris/handle/10665/117645
JournalEMHJ - Eastern Mediterranean Health Journal, 15 (2), 345-352, 2009
MetadataShow full item record
Showing items related by title and MeSH subject.
Summary report on the twenty-third intercountry meeting of national AIDS programme managers, Beirut, Lebanon, 27–29 October 2015 World Health Organization, Regional Office for the Eastern Mediterranean (WHO-EM/STD/178/E, 2015)
كلمة الدكتور علاء الدين العلوان المدير الإقليمي لمنظمة الصحة العالمية لإقليم شرق المتوسط بمناسبة اليوم العالمي للإيدز 2014 - 1 كانون الأول/ديسمبر 2014 World Health Organization, Regional Office for the Eastern Mediterranean (2015-12-01)
Malik, M.; Elkholy, A.A.; Khan, W.; Hassounah, S.; Abubakar, A.; Minh, N. Tran; Mala, P. (2016-07)A literature review of publically available information was undertaken to summarize current understanding and gaps in knowledge about Middle East respiratory syndrome coronavirus [MERS-CoV], including its origin, transmission, effective control measures and management. Major databases were searched and relevant published papers and reports during 2012-2015 were reviewed. Of the 2520 publications initially retrieved, 164 were deemed relevant. The collected results suggest that much remains to be discovered about MERS-CoV. Improved surveillance, ...