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Year: 2013  Vol. 17   Num. Suppl. 1  - Print:
RICHIERI-COSTA-PEREIRA SYNDROME: REPORT OF TWO CASES WITH SEVERE RESPIRATORY DYSFUNCTION
Author(s):
Michelle Manzini, Caroline Persch Royer, Claudia Schweiger, Denise Manica, Gabriel Kuhl, Jefferson Bauer
Abstract:

INTRODUCTION Richieri-Costa-Pereira Syndrome is an acrofacial dysostosis characterized by the presence of the Pierre Robin sequence, jaw fissures, and limb abnormalities. We report 2 cases that differ from the other 30 cases reported in the literature because of severe respiratory distress. CASE 1: A full-term, 7-day-old, female infant presented with planovalgus feet, retrognathy, stridor, and severe respiratory distress from birth requiring intubation. Airway endoscopy revealed no epiglottis, but Grade III glossoptosis. CT revealed no bone on the anterior portion of the jaw. A tracheostomy and reconstructive jaw surgery were performed. The patient, who is now 2 years old, still has a tracheostomy. CASE 2: A 40-day-old, male infant presented with subcostal effort, micrognathy, and bone fail upon palpation of the right jaw. Airway endoscopy diagnosed epiglottis agenesis, supraglottic membrane, and Grade III glossoptosis. Polissonography showed an AHI of 41. A tracheostomy and reconstructive jaw surgery were indicated. DISCUSSION: All cases of RCPS identified in our literature review, bar 1 in France, were registered in Brazil. Vale do Ribeira, in So Paulo, is the most populated region. We do not know if the small number of described patients and their concentration in South and Southeast Brazil is due to a local unknown factor or because some children are not being diagnosed. We therefore wish to make the syndrome known as a possible diagnosis for children who present with limb abnormalities and laryngeal and pharyngeal malformations.

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