Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
(East. Mediterr. health j).
em En
| WHOLIS
| ID: who-117645
Biblioteca responsável:
CH1.1
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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Texto completo:
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Coleções:
04-international_org
Base de dados:
WHOLIS
Assunto principal:
Pais
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Síndrome
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Reação em Cadeia da Polimerase
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Hiperostose Cortical Congênita
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Consanguinidade
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Hipoparatireoidismo
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Deficiência Intelectual
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Mutação
Idioma:
En
Revista:
East. Mediterr. health j
Ano de publicação:
2009