AB085. Diagnosis of Prader-Willi syndrome using computer-aided facial dysmorphism analysis in Thai patients

Diagnosis in Prader-Willi syndrome.

Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular g...

Molecular markers for diagnosis of Prader-Willi syndrome in thai patients by fish.

Paternal microdeletion of chromosome 15 at q11-q13 has been reported in 75% of Prader-Willi syndrome (PWS) patients in western countries. Diagnosis of PWS in Thailand is mainly based on clinical observation and, in some cases, confirmed by conventional cytogenetic analysis. Loss of a tiny segment in this region (microdeletion) has made it difficult to discriminate from the normal karyotype. An ...

Dental Management of Patients with Prader Willi Syndrome

Prader–Willi syndrome (PWS) is a genetic disorder which occurs with a frequency of about one in 10,000–30,000 live newborns. Both males and females, and all races are equally affected. PWS is a complex disorder with multiple disabilities, and the main defect is found in the hypothalamus. Child with PWS at the age between 2 and 3 years becomes constantly hungry and if the diet is not controlled,...

Early diagnosis of Prader-Willi syndrome

Prader-Willi Syndrome (PWS) — Diagnosis and Treatment

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...