Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature |
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Authors: | Annet P M van den Elzen Ben A Semmekrot Ernie M H F Bongers Patrick L M Huygen Henri A M Marres |
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Institution: | (1) Department of Paediatrics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands, NL;(2) Department of Otorhinolaryngology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands, NL;(3) Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands, NL |
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Abstract: | 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.
Received: 4 April 2000 / Accepted: 21 August 2000 |
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Keywords: | Congenital malformations Follow-up Infants and children Pierre Robin sequence Treatment |
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