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Title: Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
Authors: Naguib, K.K.
Gouda, S.A.
Elshafey, A.
Mohammed, F.
Bastaki, L.
Azab, A.S.
Alawadi, S.A.
Issue Date: 2009
Language: English
Abstract: We 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
Description: 345-352
Keywords: Hyperostosis, Cortical, Congenital
Polymerase Chain Reaction
Mental Retardation
Subject: Hyperostosis, Cortical, Congenital
ISSN: 1020-3397
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Appears in Collections:EMRO Journal Articles (EMHJ)

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