Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
EMHJ-Eastern Mediterranean Health Journal. 2009; 15 (2): 345-352
in English
| IMEMR
| ID: emr-157332
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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Parents
/
Syndrome
/
Polymerase Chain Reaction
/
Hyperostosis, Cortical, Congenital
/
Consanguinity
/
Hypoparathyroidism
/
Intellectual Disability
/
Mutation
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
East Mediterr Health J.
Year:
2009
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