The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
| Autor: | Nayana Lahiri, Katrina Tatton-Brown, Edward Blair, Trevor Cole, Julie Vogt, Emma McCann, Sally Ann Lynch, Anna Zachariou, Shelagh Joss, Jenny Morton, Tazeen Ashraf, Deborah J. Shears, Sahar Mansour, Elizabeth Thompson, Nicole Motton, Alex Henderson, Chey Loveday, Blanca Gener, Katie Riches, Melita Irving, Huw Dorkins, Alan Fryer, Jill Clayton-Smith, David Goudie, Alexandra Murray, Zornitza Stark, Vaughan Keeley, Alison Foster, Michael Wright |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Hearing loss Scoliosis Intellectual Disability Intellectual disability Genetics Humans Medicine Child Genetics (clinical) Muscle contracture Sotos Syndrome business.industry Sotos syndrome Macrocephaly Facies Tall Stature medicine.disease Phenotype Lymphedema Female medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:502-508 |
| ISSN: | 1552-4876 1552-4868 |
| Popis: | Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|