1.
EMHJ-Eastern Mediterranean Health Journal. 2009; 15 (2): 345-352
en Inglés
| IMEMR
| ID: emr-157332
RESUMEN
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
Asunto(s)
Femenino , Humanos , Masculino , Hiperostosis Cortical Congénita/diagnóstico , Reacción en Cadena de la Polimerasa , Mutación/genética , Padres , Consanguinidad , Síndrome , Hipoparatiroidismo/congénito , Discapacidad Intelectual/congénito
2.
EMHJ-Eastern Mediterranean Health Journal. 2007; 13 (4): 975-979
en Inglés
| IMEMR
| ID: emr-157074