AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM
| العنوان: | AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM |
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| المؤلفون: | S, Erol, N, Demirel, A Y, Bas, B, Ozcan, I H, Celik, D Ulubas, Isik |
| المصدر: | Genetic counseling (Geneva, Switzerland). 27(3) |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Male, Cerebellum, Infant, Newborn, Brain, Humans, Abnormalities, Multiple, Eye Abnormalities, Agenesis of Corpus Callosum, Kidney Diseases, Cystic, Prognosis, Magnetic Resonance Imaging, Hypopituitarism, Retina |
| الوصف: | The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD), are the clinically and genetically heterogen disorders in which the obligatory hallmark is the molar tooth sign (MTS). In this report, it was described the association of the molar tooth sign, absence of pituitary gland and corpus callosum agenesis on an infant with JSRD. To the best of our knowledge, this is the first case diagnosed as JSRD and panhypopituitarism without features of OFD VI. |
| تدمد: | 1015-8146 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=pmid________::621e24375d8ac3814bc18e7c9b32feb6 https://pubmed.ncbi.nlm.nih.gov/30204965 |
| رقم الانضمام: | edsair.pmid..........621e24375d8ac3814bc18e7c9b32feb6 |
| قاعدة البيانات: | OpenAIRE |
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