Biomaterial Database

Beyond Pierre Robin sequence. 1999

C A Prows, and P L Bender

Children's Hospital Medical Center, Cincinnati, OH 455229, USA. prowc0@chmcc.org

The label Pierre Robin sequence is given to infants presenting with a triad of specific congenital anomalies: micrognathia, glossoptosis, and cleft palate. However, this label should be considered the first, not the final, step in the diagnostic process. In approximately 80 percent of newborns with Pierre Robin sequence, the triad of anomalies is part of an underlying genetic condition. This article reviews the variable etiologies of and general clinical considerations for Pierre Robin sequence. To illustrate how clinical management might vary based on the identification of an underlying condition, three case examples of neonates with Pierre Robin sequence and different underlying genetic conditions are presented.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007255	Information Services	Organized services to provide information on any questions an individual might have using databases and other sources. (From Random House Unabridged Dictionary, 2d ed)	Information Networks,Information Specialists,Services, Information,Information Network,Information Service,Information Specialist,Network, Information,Networks, Information,Service, Information,Specialist, Information,Specialists, Information
D008297	Male		Males
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010855	Pierre Robin Syndrome	Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.	Glossoptosis, Micrognathia, and Cleft Palate,Pierre Robin Sequence,Pierre Robin's Sequence,Pierre-Robin Syndrome,Robin Sequence,Pierre Robins Sequence,Robin Syndrome, Pierre,Sequence, Pierre Robin,Sequence, Pierre Robin's,Sequence, Robin,Syndrome, Pierre Robin,Syndrome, Pierre-Robin
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012657	Self-Help Groups	Organizations which provide an environment encouraging social interactions through group activities or individual relationships especially for the purpose of rehabilitating or supporting patients, individuals with common health problems, or the elderly. They include therapeutic social clubs.	Social Clubs, Therapeutic,Support Groups,Clubs, Therapeutic Social,Therapeutic Social Clubs,Club, Therapeutic Social,Group, Self-Help,Group, Support,Groups, Self-Help,Groups, Support,Self Help Groups,Self-Help Group,Social Club, Therapeutic,Support Group,Therapeutic Social Club
D017283	Neonatal Nursing	The nursing specialty that deals with the care of newborn infants during the first four weeks after birth.	Nursing, Perinatal,Perinatal Nursing,Nursing, Neonatal
D020407	Internet	A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.	World Wide Web,Cyber Space,Cyberspace,Web, World Wide,Wide Web, World