Genetic and Metabolic Disorders

All Items

• Exocrine pancreatic insufficiency: a pancreatic variant of Carmi syndrome?

  N Daadaa, S Youssef, S Gannouni, N Doss, MR Dhaoui (Author)

  61-64

• A tibial bone deformation: What diagnosis? — Neurofibromatosis Type 1: A multivisceral disease

  R Guedri, H Hadhri, A Akkari, Z Fitouri, S Ben Becher (Author)

  70-73

• Congenital tufting enteropathy : diagnostic features and management difficulties

  R Ben Rabeh Trabelsi, N Missaoui, S Atitallah, S Yahyaoui, S Mazigh, S Bouraoui, AS Lahmer, S Boukthir (Author)

  59-62

• Facial asymmetry revealing Cayler Syndrome

  F Khalsi, R Ouerfelli, I Trabelsi, M Ben Romdhane, I Belhadj, L Kraoua, S Hamouda, R Mrad, K Boussetta (Author)

  44-46

• A Tunisian case of a rare cause of mixed hyperbilirubinemia : A Rotor Syndrome

  I Selmi, R Ben Khelifa, E Marmech, Z Khlayfia, H Ouerda, O Azzabi, N Siala (Author)

  46-47

• Say-Barber-Biesecker-Yong-Simpson syndrome (SBBYSS) or Ohdo Blepharophimosis syndrome : A first Tunisian case

  I Selmi, O Azzabi, E Marmech, Z Khlayfia, J Kanzari, H Ouerda, N Siala (Author)

  48-50

• Gaucher Disease revealed by bone biopsy in a child with recurrent osteomyelitis

  H Besbes, N Djobbi, R Hadj Salem, M Nejima, Y Othmen, J Saad, M Zrig, M Golli, A Abid, S Ferchichi, A Zakhama, C Chouchane, S Chouchane (Author)

  42-45

• Psychomotor regression: « The eye and the ears are the windows of the brain »

  R Ben Abdelaziz, S Skouri, A Ben Chehida, H Boudabous, I Ouertani, S Marrakchi, MS Abdelmoula, R Mrad, H Ben Turkia, H Azzouz, N Tebib (Author)

  56-58

• Cornelia de Lange syndrome about two cases

  M Kmari, O Abdelhakim, R Abilkassem, A Agadr (Author)

  45-47

• Genetic study of Noonan Syndrome about 3 cases

  M Kmari, R Abilkassem, A Agadr (Author)

  41-44

• The role of molecular approach in the diagnosis of Prader-Willi syndrome: the experience of a Tunisian laboratory

  Y Halleb, S Nouri, A Touati, J Mathlouthi, M Barka, Fz Chioukh, J Bouguila, N Soyah, A Sboui, S Kmiha, S Mougou, M Gribaa, K Monastiri, N Mahdhaoui, A Saad, D H'mida (Author)

  21-27

• Toni-Debré-Fanconi syndrome

  A Boussetta, M Jellouli, O Naija, T Gargah (Author)

  7-14

• 3M Syndrome Revealed by severe and early growth retardation

  R Kebaili, S Ghorbel, H Ben Belgacem, A Attig, M Abdelbari, A Tej, S Tilouche, N Soyah, J Bouguila, L Boughamoura (Author)

  62-66

• Syndrome de Joubert : A propos de deux observations néonatales de présentations différentes

  M Bellelah, J Methlouthi, H Ayech, A Guith, O Mghirbi, H Zaghouani, I Kacem, S Nouri, N Mahdhaoui (Author)

  41-44

• Ring chromosome 20 syndrome: Electroclinical description about one case

  L Sfaihi, I Maaloul, N Belguith, I Kamoun, S Kmiha, H Aloulou, T Kamoun (Author)

  38-40

• Refractory anemia: Think about genetic iron metabolism defects!

  S Yahyaoui, R Benrabeh, O Bouyahya, S Mazigh, S Boukthir (Author)

  52-54

• Lameness in a child. Which is your diagnosis?

  L Essaddam, R Guedri, N Matoussi, Z Fitouri, S Ben Becher (Author)

  59-62

• Allgrove syndrome in a child: a case report

  N Siala, Z Khlayfia, H Hafsi, H Ouarda, I Fetni, I Selmi, Y Dridi, S Halioui, O Azzabi, A Maherzi (Author)

  49-51

• Classical homocystinuria: at the crossroads of specialties

  R Ben Abdelaziz, A Ben Chehida, S Ben Messaoud, H Hajji, H Boudabous, MS Abdelmoula, H Azzouz, N Tebib (Author)

  7-14

• Neonatal acrodermatitis enteropathica-like cutaneous lesions in organic aciduria

  FZ Chioukh, K Ben Ameur, T Khemis, H Ben Hamida, K Msalbi, A Jlassi, A Turki, K Monastiri (Author)

  46-48

• Bilateral glioma of the optical nerve revealing Von Recklinghausen disease

  A Chebil, A Hsairi, R Mammouri, M Marzouki, L Elmatri (Author)

  42-44

• Otocephaly-dysgnathia complex: a new case report

  S Nouri Merchaoui, N Mahdhaoui, M Bellalah, H Ayache, I Kacem, A Ghith, J Methlouthi, H Seboui (Author)

  48-51

• Smith-Lemli-Opitz syndrome: Clinical and biochemical features in a Tunisian infant

  H Jilani, O Azzabi, I Rejeb, Y Elaribi, N Siala, I Selmi, S Halioui, C Saban, A Maherzi, L Ben Jemaa (Author)

  49-51

• Neurological manifestations of Tuberous Sclerosis of Bourneville: study of 9 observations

  N Soyah, A Fourati, N Mama Larbi, K Tlili Graiess, L Boughamoura (Author)

  21-25

• Duarte variant in congenital galactosemia: Diagnosis difficulties

  A Ben Chehida, O Azzabi, H Azzouz, R Ben Abdelaziz, H Boudabous, I Fetni, A Omezzine, A Bouslema, H Ben Turkia, A Maherzi, N Tebib (Author)

  45-48