Pierre Robin Syndrome (Syndrome, Pierre Robin)

An autosomal recessive disorder characterized by brachygnathia and cleft palate, often associated with glossoptosis, backward and upward displacement of the larynx, and angulation of the manubrium sterni. Cleft palate makes sucking and swallowing difficult, permitting easy access of fluids into the larynx. It may appear in several syndromes or as an isolated hypoplasia. (Dorland, 27th ed)

Also Known As:

Networked: 44 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Apnea
2.	Airway Obstruction (Choking)
3.	Tracheomalacia
4.	Muscular Diseases (Myopathy)
5.	Cleft Palate (Palate, Cleft)

Experts

1.	Takeuchi, Mamoru: 2 articles (06/2014 - 06/2005)
2.	Park, Wyun Kon: 2 articles (02/2013 - 04/2004)
3.	Hirabayashi, Yoshihiro: 1 article (06/2014)
4.	Iwai, Hidetaka: 1 article (06/2014)
5.	Mouri, Hideyuki: 1 article (06/2014)
6.	Lee, Jaemin: 1 article (04/2014)
7.	Kim, Jeong Eun: 1 article (04/2014)
8.	Jeong, Da Hye: 1 article (04/2014)
9.	Kim, Yongsuk: 1 article (04/2014)
10.	Choi, Eun Kyeong: 1 article (02/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pierre Robin Syndrome:

1.	Bone Morphogenetic Protein 2IBA 07/01/2010 - "This study was performed to establish the safety and effectiveness of rapid protocol distraction osteogenesis with recombinant human bone morphogenetic protein 2 (rhBMP-2) in neonates with the Pierre Robin syndrome. "
2.	tranilast (N 5')IBA 04/01/2005 - "Ten infants (median age 9.5 months, range 3-18) with laryngomalacia (n=5), tracheomalacia (n=3), tracheal hypoplasia (n=1), and Pierre Robin syndrome (n=1). " 01/01/1990 - "The conditions necessitating tracheostomy were trauma (n = 21), acquired subglottic stenosis (n = 21), subglottic haemangioma (n = 16), Guillain-Barré syndrome (n = 14), Pierre Robin syndrome (n = 9), craniofacial disorders (n = 9), micrognathia (n = 5), and others in 47. "
3.	LecithinsIBA 07/01/1977 - "Failure of determination of fetal lung maturation due to false-negative lecithin/sphingomyelin ratio in a case of pierre robin syndrome."
4.	Thalidomide (Thalomid)FDA Link 09/01/1965 - "[Non-thalidomide-induced severe dysmelia associated with Pierre Robin syndrome]."
5.	HormonesIBA 02/01/1984 - "A case of the inappropriate secretion of antidiuretic hormone syndrome (SIADH) associated with uneventful repair of a cleft palate in a child with Pierre Robin syndrome is reported. "
6.	Follicle Stimulating Hormone (Follitropin)FDA Link 03/23/1995 - "A few ActRcII-deficient mice had skeletal and facial abnormalities reminiscent of the Pierre-Robin syndrome in humans, but most lacked these defects and developed into adults; their follicle-stimulating hormone was suppressed, and their reproductive performance was defective. "
7.	Carnitine (L-Carnitine)FDA LinkGeneric 10/01/1997 - "Other medical conditions affecting the children are summarized as follows: autonomic dysfunction in 10 patients (43%), recurrent hypoglycemia in 9 (39%), asthma in 9 (39%), cholecystitis in 7 (30%), low serum carnitine level in 6 (26%), urinary dysfunction in 6 (26%), pancreatitis in 5 (22%), behavioral problems in 5 (22%), myopathy in 2 (9%), idiopathic thrombocytopenia in 2 (8%), velopharyngeal insufficiency in 1 (4%), oculocutaneous albinism in 1 (4%), Pierre-Robin syndrome in 1 (4%), and protein C deficiency in 1 (4%). "
8.	Carbon DioxideIBA 02/01/1985 - "Five infants with Pierre Robin syndrome developed evidence of carbon dioxide retention and congestive cardiac failure despite measures to alleviate upper airway obstruction. "
9.	Caffeine (No Doz)FDA LinkGeneric 05/01/1991 - "Caffeine acetylator phenotype was studied during maturation in 54 8- to 447-d-old children hospitalized for minor disease (group A) and in five 3- to 630-d-old children with Pierre Robin syndrome (group B). "
10.	Congenital diaphragmatic herniaIBA 07/01/1988 - "Musculoskeletal abnormalities were identified in 133 patients (scoliosis, 107; kyphosis, 4; myopathy, 3; Poland's syndrome, 3; Marfan's syndrome, 2; Pierre Robin syndrome, 2; prune belly syndrome, 2; neurofibromatosis, 3; cerebral palsy, 4; tuberous sclerosis, 1; and congenital diaphragmatic hernia, 2). "

Therapies and Procedures

1.	Nursing Care 11/21/1984 - "3. Nursing care study: Pierre Robin syndrome." 10/16/1975 - "Nursing care study: a baby with Pierre Robin syndrome."
2.	Tracheostomy 04/01/2009 - "Utility of LMA for emergency tracheostomy in an infant with pierre Robin syndrome." 10/01/1961 - "A plea against tracheostomy in the Pierre-Robin syndrome." 06/01/2014 - "A 36-day-old boy weighing 2.8 kg with Pierre Robin syndrome presented for tracheostomy after several weeks of trial airway management in prone position, who had failed to relieve his obstructive apnea. " 04/01/1992 - "Indications for tracheostomy were tracheomalacia (32%), obstructive airway lesions (23%), central nervous system lesions (16%), vocal cord paralysis (9%), Pierre Robin syndrome (9%), and a list of miscellaneous conditions (11%). " 07/01/2012 - "Obstructive sleep apnea (OSA) is often associated with congenital craniofacial malformations such as Pierre-Robin Syndrome, Hemifacial Microsomia, Treacher Collins Syndrome resulting in decreased pharyngeal airway, which, in severe cases, leads to tracheostomy dependence. "
3.	Airway Management 01/01/2009 - "We present two cases of difficult airway management for patients with Pierre Robin syndrome and right ventricular outflow tract obstruction in infants. " 12/01/2008 - "Babies with Pierre Robin syndrome have serious life-threatening risks because of acute respiratory distress and difficult airway management. " 10/01/1966 - "Airway management in patients with Pierre Robin syndrome." 04/01/2012 - "Percutaneous dilational tracheotomy for airway management in a newborn with Pierre-Robin syndrome and a glossopharyngeal web." 06/01/2014 - "A 36-day-old boy weighing 2.8 kg with Pierre Robin syndrome presented for tracheostomy after several weeks of trial airway management in prone position, who had failed to relieve his obstructive apnea. "
4.	Distraction Osteogenesis 07/01/2010 - "Three patients with the Pierre Robin syndrome who underwent distraction osteogenesis with rhBMP-2 were identified. " 01/01/2010 - "To investigate the feasibility of mandibular distraction osteogenesis (MDO) in the treatment of airway obstruction in Pierre Robin syndrome (PRS). " 01/01/2010 - "[Treatment of airway obstruction with mandibular distraction osteogenesis in Pierre Robin syndrome]." 01/01/2012 - "The terms Pierre Robin syndrome/sequence, micrognathia, retrognathia, and cleft palate were combined with airway obstruction, treatment, tongue-lip plication, and osteogenesis distraction to perform an Ovid literature search, yielding 341 references. " 07/01/2010 - "This study was performed to establish the safety and effectiveness of rapid protocol distraction osteogenesis with recombinant human bone morphogenetic protein 2 (rhBMP-2) in neonates with the Pierre Robin syndrome. "
5.	Bronchoscopes 02/01/2008 - "However, a fibreoptic bronchoscope and an anaesthetist trained in fibreoptic intubation must still be present when dealing with severe Pierre Robin syndrome infants." 04/01/2004 - "Nasotracheal intubation in an infant with Pierre Robin syndrome using two fibreoptic bronchoscopes of different diameter."