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- Title
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.
- Authors
Naguib KK; Gouda SA; Elshafey A; Mohammed F; Bastaki L; Azab AS; Alawadi SA
- 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.
- Publication
Eastern Mediterranean Health Journal, 2009, Vol 15, Issue 2, p345
- ISSN
1020-3397
- Publication type
Journal Article
- DOI
10.26719/2009.15.2.345