This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. The SOX9 protein regulates the activity of other genes, especially those involved in the development of the skeleton, including the jaw.
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Ilza L. Marques I ; Telma V. Peres IV ; Marco A. I Doutora em Pediatria. Apesar da fissura palatina estar presente na maioria dos casos, pode estar ausente em alguns 1. A etiologia da SRI tem sido discutida ao longo do tempo por diversos autores. Estudo mais controlado realizado na Inglaterra sugere O ganho ponderal deve ser monitorizado mensalmente5.
Prevalence of selected pediatric conditions in children with Pierre Robin sequence. Pediatr Dent. Sher AE. Mechanisms of airway obstruction in Robin sequence: implications for treatment. Cleft Palate Craniofac J. Endoscopic observations of obstructive sleep apnea in children with anomalous upper airways: predictive and therapeutic value. Int J Pediatr Otorhinolaryngol. Large experience with infants with Robin sequence: a prospective study on cases.
In: Lilja J, editor. Goteborg: s. Clinical experience with infants with Robin sequence: a prospective study. Growth of children with isolated Robin sequence treated by nasopharyngeal intubation: importance of a hypercaloric diet.
Cleft Palate Craniofac. Marques IL. Etiopathogenesis of isolated Robin sequence. Nasopharyngoscopy in Robin sequence: clinical and predictive value. Robin P. Glossoptosis due to atresia and hypotrophy of the mandible. Am J Dis Child. Cohen Jr MM. The Robin anomalad: its nonspecificity and associated syndromes. J Oral Surg. Clinical experience with the Robin sequence. Cleft Palate J.
Early decannulation with bilateral mandibular distraction for tracheostomy-dependent patients. Plast Reconstr Surg. Cocke Jr W. Experimental production of micrognathia and glossoptosis associated with cleft palate Pierre Robin syndrome. Latham RA. The pathogenesis of cleft palate associated with the Pierre Robin syndrome.
An analysis of a seventeen-week human foetus. Br J Plast Surg. Poswillo D. The aetiology and surgery of cleft palate with micrognathia. Ann R Coll Surg Engl. The Pierre Robin syndrome reassessed in the light of recent research. Becker R, Palm D. Zur kausalen und formalen genese des Pierre Robin syndrome. Dtsch Zahnarztl Z. Tan KL. The Pierre-Robin syndrome. J Singapore Paediatr Soc.
Patterns of abnormal myogenesis in human cleft palates. Shprintzen RJ. The implications of the diagnosis of Robin sequence. Stickler syndrome in a pedigree of Pierre Robin syndrome. Turner G. The Stickler syndrome in a family with the Pierre Robin syndrome and severe myopia. Aust Paediatr J. Salmon MA. Developmental defects and syndromes. Aylesbury: HMM; Incidence of the Robin anomalad Pierre Robin syndrome. Takagi Y, Bosma JF.
Disability of oral function in an infant associated with displacement of the tongue: therapy by feeding in prone position. Acta Paediatr Scand. Cor pulmonale and the Pierre Robin anomaly: airway management with a nasopharyngeal tube. Nasopharyngeal airways in Pierre Robin syndrome. J Pediatr. Argamaso RV. Glossopexy for upper airway obstruction in Robin sequence. Denny A, Kalantarian B.
Mandibular distraction in neonates: a strategy to avoid tracheostomy. Mandibular distraction osteogenesis in very young patients to correct airway obstruction. Dogliotti PL, Nadal E. Rev Cir Infant. Mandibular distraction osteogenesis in a neonate. Arch Otolaryngol Head Neck Surg. McCarthy JG. The role of distraction osteogenesis in the reconstruction of the mandible in unilateral craniofacial microsomia.
Clin Plast Surg. Morovic CG, Monasterio L. Distraction osteogenesis for obstructive apneas in patients with congenital craniofacial malformations. Distraction osteogenesis of the mandible for airway obstruction in children. Tracheostomy: complications and their management. Arch Otolaryngol. Paediatric tracheostomy: persistent tracheo-cutaneous fistula following decannulation. The superiorly based flap long-term tracheostomy in pediatric patients.
Am J Otolaryngol. Developmental sequelae of long-term infant tracheostomy. Dev Med Child Neurol. Supraglottic stenosis in infants and children: a preliminary report. Feeding and swallowing disorders in infancy: assessment and management. Tucson: Therapy Skill Builders; Baptista EN. The nasogastric feeding tube as a risk factor for aspiration and aspiration pneumonia. Monteiro LC. Gastroesophageal reflux in Pierre Robin sequence: early surgical treatment.
Pierre Robin sequences: secondary respiratory difficulties and intrinsic feeding abnormalities. Nassar E. Rev Bras Nutr Clin.
Pierre Robin sequence
CiteScore measures average citations received per document published. Read more. SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Newborns with Pierre-Robin sequence often suffer from serious or even life-threatening obstructions in the respiratory tract resulting from anatomic malformations micrognathia, glossoptosis and potentially a median cleft palate. Such babies require immediate effective therapeutic measures.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence see this term comprising micrognathia, cleft palate and glossoptosis. The key feature of Catel-Manzke syndrome is a bilateral hyperphalangy of the index finger in which there is an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger.
Alternative titles; symbols. Cytogenetic location: 17q Affected brothers were reported by Smith and Stowe and pictured by McKusick et al. It is possible that these brothers had either the Wagner syndrome or the Stickler syndrome In the view of Opitz , Stickler syndrome should come to mind first in cases of the Pierre Robin syndrome, especially familial cases. Sachtleben also described 2 brothers who, in addition to the usual features of Pierre Robin syndrome, had bilateral syndactyly of the second and third toes and evidence of cardiac disease. The older brother had hypospadias, bipartite scrotum, and mental retardation.