Nephronophthisis (NPHP) or Familial juvenile nephronophthisis (FJN) is an autosomal recessive condition equally distributed in males and females that almost always progresses to end-stage renal disease usually during adolescence. Smith and Graham first reported NPHP in 1945, but the first description has been attributed to Fanconi et al in 1951. A gene involved in the disease - NPHP 1 has been mapped to chromosome 2q13. It has been estimated that

Medical Genetics department of University of Medicine and Pharmacy "Victor Babes" Timisoara and Genetics Department of Children Hospital "Louis Turcanu" have started several years ago a project which aim was to realize a rapprochement between genetics and community. Organizing courses and case presentations, including discussion of etiology, inheritance, dysmorphology, differential diagnosis of genetic diseases investigated and followed-up in Pediatric

Introduction: In the absence of a governmental strategy for Down syndrome, the most common chromosomal disease in Romania, the social inclusion of these children remains to the private initiative of NGO's. Aim of our paper is to focus on the changes in life quality of children with this syndrome, after a multidisciplinary approach. Material: In our NGO partnership (a branch of an international NGO from Romania and a local one) we worked with 32 children

Genetic pathology often determines a complex and extremely polymorphic clinical phnotype. Among the frequently found anomalies are those in the dentomaxillary field. The Genetic Department from ,,Louis Turcanu" Children's Emergency Hospital investigated and observed between 2000-2005, 540 children with different genetic diseases. We find that 78% of them presented minor or major dentomaxillofacial anomalies. Among the registrated cases cromosomal

Background: Recent data shows that the Bmp4 plays significant roles in a large number of developmental processes, including bone formation and development. Objective: The purpose of this study was to identify the Bmp4 expression and its role in the development of ribs and sternum and analysis of the skeletal phenotypes caused by the genetic inactivation of Bmp4. along with the study of it's expression patterns. Design and Methods: Bmp4 lacZ mice,

Introduction. Hemophilia is a X-linked inherited coagulopathy, due to mutations in either FVIII (haemophilia A) or FIX (haemophilia B) genes. Without adequate therapy, bleeding within the nervous system is the most frequent mortality and morbidity in haemophiliacs. Objective. Starting from therapeutic deficiencies in Romania (prophylaxis absence, inadequate doses and duration of "on demand" therapy), we followed-up neurological manifestations and

Aim. To present 4 infants with different oro-facial clefts in which several diagnostic issues emerged after clinical examination and genetical investigations. Material and Method. 4 infants (3 boys and 1 girl) with oro-facial clefts admitted in our clinic during January 2005-January 2006 were assessed for other malformations: complete clinical examination, cardiac non-invasive explorations, abdominal ultrasonography, neurological examination, laboratory

Mongolian spot is a hereditary developmental condition caused by entrapment of melanocytes in the dermis during their migration from the neural crest into the epidermis. A child may have one or several on the lower back They are more common in dark-skinned infants and, in some cases, involve unusual sites. Nevus of Ota is a permanent unilateral congenital/aquired blue/gray patch on the face and it may involve the ocular surface. We present a five-months

Diagnostical framing of the echography find out disease, correlation between the imaging and clinical marks, setting of the evolutional stage and therapeutical indication. Material and Method: The study contained 34 cases of ventriculomegaly, selected by clinical and imaging criteria from the premature newborn hospitalized in the Clinic of Neonatology. Head ultrasonography was used as method of diagnosis and prognosis evaluation. Results: Hydrocephaly

Introduction: Holoprosencephaly appears between the 4-th to 8-th week of pregnancy due to the lack of cleavage of the prosencephalus in the telencephalus and diencephalus,. The attendance is 1 at 10.000 live newborn,; 60 times higher at aborted human embryos. Depending on the degree of differentiation and severity we can have 3 subtypes of holoprosencephaly: alobar. semilobar and lobar. Material and Method: The authors present a study on 3 premature