A Filipino child with schinzel-giedion syndrome

@#Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.

Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic

Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias. Early diagnosis and treatment can greatly improve the quality of life in these children. In this study we studied 46 MPS patients diagnosed on enzyme and/or DNA testing and we found that the MPS II was the most common type followed by MPS I and MPS IVA. While the mean age of onset of symptoms was 12 months, the mean age at diagnosis was 4.5 years, a significant delay. One of major presenting features was recurrent respiratory problems, more prevalent in MPS II cases. Many patients also had short stature and contractures. Increasing awareness among physicians is of paramount importance for the early diagnosis and optimal treatment and prevention by prenatal testing and counselling.

A Patient With Coarse Facies And Skin Changes — A Case Report Of Undiagnosed Hansen's Disease Presenting To Primary Care. When Should We Suspect It, And What Should We Do?

A 44-year-old Malay gentleman was seen at the polyclinic on the advice of a medical social worker. He was noted to have coarse facies, extensive skin peeling, and nail deformities in all 4 limbs. He was suspected to have leprosy and referred to the National Skin Centre (NSC) which confirmed the diagnosis of Lepromatous Leprosy by histology. He has shown good progress since starting on a course of treatment. A brief review is presented here as a reminder of the challenges faced in the care of a condition largely forgotten in our highly urbanised setting: Hansen’s disease.