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NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1.
- Source :
-
Acta dermatovenerologica Alpina, Pannonica, et Adriatica [Acta Dermatovenerol Alp Pannonica Adriat] 2020 Jun; Vol. 29 (2), pp. 85-87. - Publication Year :
- 2020
-
Abstract
- Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders, resulting from a wide spectrum of mutations in the NF1 gene. The NF1 microdeletion syndrome is characterized by a more severe clinical presentation than the majority of NF1 patients, with facial dysmorphic features, cognitive impairment, developmental delay, early-onset neurofibromas, and an increased risk of malignant tumors. This report provides the phenotypical characterization of a young boy diagnosed with this syndrome.
- Subjects :
- Child
Chromosome Deletion
Chromosomes, Human, Pair 17
Craniofacial Abnormalities complications
Humans
Intellectual Disability complications
Learning Disabilities complications
Male
Neurofibromatoses complications
Craniofacial Abnormalities diagnosis
Intellectual Disability diagnosis
Learning Disabilities diagnosis
Neurofibromatoses diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1581-2979
- Volume :
- 29
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Acta dermatovenerologica Alpina, Pannonica, et Adriatica
- Publication Type :
- Academic Journal
- Accession number :
- 32566957