RESUMO
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
Assuntos
Feminino , Humanos , Masculino , Hiperostose Cortical Congênita/diagnóstico , Reação em Cadeia da Polimerase , Mutação/genética , Pais , Consanguinidade , Síndrome , Hipoparatireoidismo/congênito , Deficiência Intelectual/congênitoRESUMO
A 10-year old Sudanese patient is reported who had the Sjogren-Larsson syndrome presenting with congenital ichthyosis, spastic diplegia and mental retardation. Histology of the skin biopsy confirmed the ichthyosis to be of the lamellar type. Biochemical assay of the fatty alcohol: NAD oxidoreductase in the cultured skin fibroblasts from the patient should deficient activity