Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.
East Mediterr Health J
; 15(2): 345-52, 2009.
Article
em En
| MEDLINE
| ID: mdl-19554981
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.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Retardo do Crescimento Fetal
/
Hipocalcemia
/
Hipoparatireoidismo
/
Deficiência Intelectual
/
Microcefalia
Limite:
Humans
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Revista:
East Mediterr Health J
Assunto da revista:
MEDICINA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Kuait