Background. Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by genetic defects in certain regions of chromosome 15q11-13. Commonly associated characteristics of this disorder include hypotonia, obesity, mental retardation, short stature, hypogonadotropic hypogonadism, small hands and feet, facial dysmorphy, learning and behavioural difficulties, and dental abnormalities (thick viscous saliva). Aim. To describe the oro-dental phenotypic

Background: BPES (Blepharophimosis-Ptosis-Epicantus inversus Syndrome) is an autosomal, rare and complex dominant malformation of the eyelids that may severely impair visual function. BPES locus was assigned to 3q23. BPES syndrome Ohdo type is extremely rare. It is characterized by BPES anomalies and in addition neurological anomalies, growth retardation, congenital heart disease, abnormal ears and clynodactily of fifth fingers are noticed. Material

Cluj-Napoca

Conferinta est-europeana privind sindromul Prader Willi, Timisoara, 24-26 aprilie 2009

The purpose of this research is to establish the new hypotheses that are responsible for Prader- Willi/Angelman syndromes. Our study has as objectives the implementation of new molecular methods for genetic/ epigenetic investigation and establishment of national centers with high expertise in approaching the two syndromes, the rare genetic diseases that will develop educational reference and release centers. We also aim to evolve efficient partnership

Laurence-Moon-Bardet-Biedl syndrome has as principal abnormalities: obesity, mental deficiency, polydactyly and/or syndactyly, retinitis pigmentosa, genital hypoplasia or both, and has an autosomal recessive transmission. We present the case of a 16 year old boy, who was admitted to our clinic because of cyanosis, especially on effort, dyspnea and fatigue. On clinical examination, we noted an obese child, grade III, 82 kg, with cyanotic congenital

The aim of the study is to present the evolution of the congenital heart defects(CHD) in children from Timisoara, over a period of 11 years, time in which we felt the consequences of the nuclear accident in Chernobyl-Russia and the war in Yugoslavia, country nearby.The study was done on a cohort of 1113 children with CHD, classified in two groups: 226 children between 1990-1994 and 887 children between 1995-2001.The number of CHD between first and

Craniostenosis is defined as a premature closure of cranial sutures. The incidence of primary craniostenosis aproximates 1 per 2,000 births. The cause may be chromosomial abnormalities, genic anomalies or multifactorial. Most cases of craniostenosis are evident at birth. Matherials and methods: Four cases with congenital deformities of the skull are presented, two males and two females, aged 3-18 months. Results: By clinical examination, X-ray films

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of hereditable connective tissue disorders characterized by articular hypermobility, skin hyperextensibility, and tissue fragility. EDS type IV being the most life-threatening form. It is characterized by a type III collagen deficiency and this disease involves a col3A1 gene mutation. We report the case of a 47 year-old woman with type IV EDS. The medical history of our patient included multiple

Hypospadias is a congenital malformation with a complex etiology which consist in abnormal opening of penile urethra. We have studied 756 cases of hypospadias in our clinic between 1975 -2000. This trial was statistical significant. In order to determine the role of genetic factors familial study were performed to investigate the frequency of such malformation in relatives. An increase frequency could be explained by the transmission of an enzymatic