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Despite the natural progression of Cockayne's syndrome, affected patients also present with variable neurological and gastrointestinal damage (gastroesophageal reflux, recurrent vomiting, swallowing disorders, etc.) with varying repercussions on their growth. Acute intercurrent events such as seizures, constipation, infections can also interact with their metabolism, food intake and influence their growth. The nutritional deficit potentially involved in this growth retardation can be responsible for many manifestations such as anemia, bone fractures, fatigue, coagulation disorders responsible in total for the reduction in quality and life expectancy.
Faced with growth retardation in patients with Cockayne syndrome, medical management is difficult to establish. Is this delay part of the natural course of the pathology?
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| Measure | Description | Time Frame |
|---|---|---|
| Development of growth curves in Cockayne syndrome type 1 and type 2 from existing medical data | Files analysed retrospectively from January 01, 1985 to March 01, 2020 will be examined] |
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Inclusion criteria:
Exclusion criteria:
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Minor patient with cockayne syndrome with molecular confirmation, treated between 01/01/1985 and 01/03/2020
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Vincent LAUGEL, MD, PhD | Contact | 33 3 88 12 77 43 | vincent.laugel@chru-strasbourg.fr | |
| Saïd CHAYER, PhD, HDR | Contact | said.chayer@chru-strasbourg.fr |
| Name | Affiliation | Role |
|---|---|---|
| Vincent LAUGEL, MD, PhD | Service de Pédiatrie1 - Hôpitaux Universitaires de Strasbourg | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service de Pédiatrie1 - Hôpitaux Universitaires de Strasbourg | Recruiting | Strasbourg | 67091 | France |
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| ID | Term |
|---|---|
| D003057 | Cockayne Syndrome |
| ID | Term |
|---|---|
| D004392 | Dwarfism |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
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| D020271 |
| Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |