Long‐term follow‐up in Stuve–Wiedemann syndrome: A clinical report
| Autor: | Nathalie Dagoneau, Pedro Cabral, M. Manuel Vilhena, Madalena Tuna, Valerie Cormier Daire, I.M. Gaspar, Raoul C.M. Hennekam, Tiago Saldanha, Cristina Costa |
|---|---|
| Přispěvatelé: | APH - Amsterdam Public Health, ANS - Amsterdam Neuroscience, Paediatric Genetics, ARD - Amsterdam Reproduction and Development |
| Rok vydání: | 2008 |
| Předmět: |
Pediatrics
medicine.medical_specialty Leukemia Inhibitory Factor Receptor alpha Subunit Long term follow up Schwartz–Jampel syndrome Genes Recessive Short stature Dysautonomia Familial Genetics medicine Humans Abnormalities Multiple Child Genetics (clinical) Sequence Deletion Muscle contracture Bone Diseases Developmental business.industry Infant Newborn Infant Dysautonomia Syndrome medicine.disease Osteochondrodysplasia STUVE-WIEDEMANN SYNDROME Radiography Natural history Child Preschool Female medicine.symptom business Follow-Up Studies |
| Zdroj: | American journal of medical genetics. Part A, 146A(13), 1748-1753. Wiley-Liss Inc. |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.32325 |
| Popis: | Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractures, and by neurological features that resemble dysautonomia. Here we report on the natural history of a Portuguese girl from birth till 12 years. The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text