Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature
| Autor: | Henri A. M. Marres, Ben A. Semmekrot, Ernie M.H.F. Bongers, Annet P. M. van den Elzen, Patrick L. M. Huygen |
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| Rok vydání: | 2001 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Elucidation of hereditary disorders and their molecular diagnosis medicine.medical_treatment Eye disease medicine Gehoor en communicatie Humans Stickler syndrome Child Retrospective Studies Pierre Robin Syndrome business.industry Glossoptosis Retrospective cohort study Prognosis medicine.disease Hypoplasia El Niño Hearing and Communication Disorders Pediatrics Perinatology and Child Health Pierre Robin syndrome Female Airway management medicine.symptom Opheldering van erfelijke ziekten en hun moleculaire diagnostiek business |
| Zdroj: | European Journal of Pediatrics, 160, 1, pp. 47-5-53 European Journal of Pediatrics, 160, 47-5-53 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s004310000646 |
| Popis: | Item does not contain fulltext We performed a retrospective study of all children with Pierre Robin sequence (PRS), admitted to our hospital from 1981-1998 in order to evaluate diagnosis, treatment and prognosis. Patients were divided into two categories: isolated PRS (group 1) and PRS plus, i.e. PRS as part of a more complex syndrome (group 2). A total of 74 patients with PRS were found, 29 (39%) males and 45 (61%) females of whom 47 (63.5%) could be categorised as isolated PRS and 27 (36.8%) as PRS plus. The most frequent diagnoses in patients with PRS plus were Stickler syndrome and the velocardiofacial syndrome. Ophthalmological and fluorescent in situ hybridisation of chromosome 22 investigations should therefore be performed in all patients, as soon as the diagnosis of PRS is established. Some form of airway treatment was necessary in the majority of patients (52 of 74), most could be treated conservatively with prone/lateral positioning and close observation. Endotracheal intubation was necessary in one child from group 1 versus five from group 2. Tracheostomy was performed in three children from group 1 and two from group 2. Feeding problems occurred in about 25% of all PRS patients and stunted growth was seen especially in boys with isolated PRS before the age of 10 months. CONCLUSION: In our series, 33% of patients with Pierre Robin sequence plus had Stickler and velocardiofacial syndromes. Conservative airway management was a sufficient treatment for respiratory problems in the majority of patients. Feeding and growth need special attention in patients with Pierre Robin sequence. |
| Databáze: | OpenAIRE |
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