Search

Acquired: Partial Lipodystrophy (Barraquer-Simons Syndrome) The onset of acquired partial lipodystrophy usually occurs around 8-10 years of age and is usually preceded by an episode of acute viral infection. It is rare -approximately 250 patients of various ethnic origins have been described. It is characterized by the loss of fat from the face, extending to involve the neck, shoulders, arms, forearms, thoracic region and upper abdomen occasionally extending to the groin or thighs

Inherited: Familial Partial Lipodystrophy - Mandibuloacral Dysplasia Variety (FPL-MAD) Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicals, abbreviated and club- shaped terminal phalanges, acroosteolysis, and atrophy of the skin of the hands and feet, and typical facial changes. The syndrome is also associated with lipodystrophy and clinical features of metabolic sundrome

Inherited: Familial Partial Lipodystrophies, other Types Familial Partial Lipodystrophy- PPAR gamma (Peroxisome Proliferator Activated Receptor- γ) gene mutations Only about twenty patients with FPL due to heterozygous mutation in PPARG have been reported so far. It is either much less common than FPL, Dunnigan variety or is less recognized likely due to milder phenotype. We recently reported heterozygous mutation (Arg397Cys) of peroxisome proliferator-activated receptor gamma

Inherited: Neonatal Progeroid Syndrome (Wiedemann-Rautenstrauch syndrome) Neonatal progeroid syndrome (NPS), also known as Wiedemann- Rautenstrauch Syndrome, is a rare autosomal recessive disorder characterized by accelerated aging and lipodystrophy from birth. Affected children have extreme intrauterine growth retardation, poor postnatal weight gain, and have a characteristic progeroid face (triangular, old-looking face with a beak shaped or pinched nose), pseudohydrocephalus, wide

The DNA Genotyping Core facility performs allelic discrimination using an Applied Biosystems 7900HT real-time PCR instrument and the TaqMan Assay.