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4 results on '"Han Brunner"'

1. BARDET-BIEDL SYNDROME – CASE PRESENTATION

Author

Heleen H. Arts, Dana Fintina, Sorin Ioan Iurian, and Han Brunner

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Polydactyly, obesity (overweight), Retinal dystrophy, business.industry, General Medicine, Case presentation, polydactyly, Overweight, medicine.disease, RJ1-570, nervous system diseases, Developmental psychology, Bardet–Biedl syndrome, medicine, Medicine, medicine.symptom, business, bardet-biedl syndrome
Abstract

Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypo-genitalism.

Published
2015

2. SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ

Author

Sibiu Spital Clinic de Pediatrie, Han Brunner, Sibiu Universitatea „Lucian Blaga', Departamentul de Genetică Medicală, Universitatea Radboud, Nijmegen, Olanda, Sorin Ioan Iurian, Heleen H. Arts, and Dana Fintina

Subjects
polidactilie, Medicine, General Medicine, sindrom bardet-biedl, paratrofi e, Pediatrics, RJ1-570
Abstract

Sindromul Bardet-Biedl (transmitere autozomal-recesivă) este caracterizat prin obezitate, degenerescenţă retiniană, polidactilie şi retard mental. Autorii prezintă demersul diagnostic la un sugar cu paratrofie, polidactilie şi hipogenitalism.

Published
2015

3. SINDROMUL SMITH-LEMLI-OPITZ. PREZENTARE DE CAZ

Author

Bogdan Ionuţ Mehedinţu, Laboratorul de Medicină Translaţională, Nijmegen, Olanda, Departamentul de Genetică Medicală, Universitatea Radboud, Nijmegen, Olanda, Petr E. Jira, Dana Fintina, Sorin Ioan Iurian, Clinica Neonatologie, Spitalul Clinic de Urgenţă, Sibiu, Livia Ognean, Leo Kluijtmans, Han Brunner, Sibiu Universitatea „Lucian Blaga', Sibiu Spitalul Clinic de Pediatrie, and Spitalul Jreoen Bosch, Departamentul Pediatrie, Olanda

Subjects
sugar, sindromul smith-lemli-opitz, hipocolesterolemie, Medicine, General Medicine, Pediatrics, RJ1-570
Abstract

Sindromul Smith-Lemli-Opitz (SSLO) reprezintă o afecţiune cu transmitere autozomal-recesivă caracterizată prin multiple anomalii şi care se datorează anomaliilor în sinteza colesterolului. Autorii prezintă particularităţile diagnostice şi terapeutice la un sugar cu ambiguitate genitală.

Published
2015

4. SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

Author

Livia Ognean, Petr E. Jira, Leo Kluijtmans, Sorin Ioan Iurian, Han Brunner, Dana Fintina, and Bogdan Ionut Mehedintu

Subjects
Cholesterol synthesis, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, hypocholesterolemia, business.industry, Treatment options, nutritional and metabolic diseases, General Medicine, medicine.disease, infant, RJ1-570, Ambiguous genitalia, smith-lemli-opitz syndrome, Smith–Lemli–Opitz syndrome, medicine, Medicine, Inherited disease, business
Abstract

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment. The authors present diagnosis peculiarities and limitation of treatment options in a 5-weeks old infant with ambiguous genitalia.

Published
2015

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