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         Pierre Robin Syndrome:     more detail

41. NORD - National Organization For Rare Disorders, Inc.
syndrome is a rare genetic disorder characterized by distinctive abnormalitiesof the index fingers; the classic features of pierre robin syndrome; and, in
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Catel Manzke

42. Medical Pierre Robin Syndrome
pierre robin syndrome. Mrs Jacqui Mitchell, pierre robin syndrome Contact group83 Swallowfield road London SE7 7NT (Tel 0181 853 1811 evenings).
http://www.james.hopkins.easynet.co.uk/med_p1.html
Pierre Robin Syndrome The condition is characterised by a small mandible (jaw bone), lack of tongue control with a high arched or cleft palate. Obstruction of the airway can occur due to the position of the tongue. Associated problems are feeding and breathing difficulties may be severe. However, the jaw continues to grow after birth and the condition improves with age. Inheritance Patterns : Most are sporadic events; some cases may be due to Stickler Syndrome which has autosomal dominant inheritance. Pre-Natal Diagnosis : Where a cleft palate is present it may be able to identify this using ultrasound scanning.
Further information available from: Mrs Jacqui Mitchell,
Pierre Robin Syndrome Contact group
83 Swallowfield road
London
(Tel: 0181 853 1811 evenings)
The Pierre robin contact group is a small Contact group. It offers:
  • Support especially for parents with new babies with the syndrome
  • Support and encouragement for parents with older children
Return to the Medical Index HOME EVENTS NEWS ... CONTACT US

43. Neonatology On The Web: Pierre Robin Sequence
speech abnormal? Bibliography. McKusick, Victor A., 261800 pierre robin syndrome,Mendelian Inheritance in Man, Johns Hopkins University Press.
http://www.neonatology.org/syllabus/pierre.robin.html
Neo Home New Clinical Computers ... Links
Pierre Robin Sequence
Prepared by Sharon Young, M.D.
CSMC NICU Teaching Rounds, 1 May 1997
Classic Triad
  • micrognathia (hypoplasia of mandible is initiating event)
  • cleft palate (U-shaped cleft)
  • relative macroglossia
Pathology and Embryology
Genetics
  • Autosomal dominant
  • 1:2000-30,000 live births
  • associated with 300 syndromes
  • 30% may represent Stichler's Syndrome:
    • micrognathia
    • maxillary hypoplasia
    • epicanthal folds
    • depressed nasal bridge
    • hypotonia
    • hyperextensible joints
    • myopia, cataracts, retinal detachment
  • trisomy 18
    • feeble cry
    • polyhydramnios with small placenta
    • renal and cardiac abnormalities
    • short palpebral fissures
  • cryptorchidism
    • hypoplasia of nails
    • scissoring of limbs
    Associated Features
    • eyes
      • esotropia
      • congenital glaucoma
    • cardiac defects
      • ASD
      • PDA
      • VSD
    • Increased Morbidity
      • upper airway obstruction
        • onset of significant obstruction within neonatal period
        • obstructive sleep apnea is common
        • stridor
        • laryngomalacia
      • cor pulmonale, secondary to pulmonary HTN
      • failure to thrive, secondary to feeding problems
      • cerebral anoxia, likely secondary to upper airway obstruction and hypoxia
      • speech problems
      • chronic ear infections leading to conductive hearing loss
      • orthodontic problems
      Work-Up
      Requires team approach
      • genetics consult
      • ophthalmologic evaluation
      • hearing evaluation
      • ENT evaluation
      • speech tx
      • orthodontic evaluation
      Treatment
      • airway management
        • observe for 7-14 days
          • trial of positional treatment: prone (with sling and pulley?)

44. Pierre Robins Yndrome
It Pierre Robin information from Wide Smiles A genetic followup study of 64 patientswith the Pierre Robin complex pierre robin syndrome information from OMIM.
http://www.communicationdisorders.net/PierreRobinsyndrome.html
Pierre-Robin syndrome
Learn More About It
Pierre Robin information from Wide Smiles

A genetic follow-up study of 64 patients
with the Pierre Robin complex
Pierre Robin Syndrome information from OMIM
Web Sites
Pierre Robin Network

This page is for my son, Logan

General Pierre Robin Information

HOME

45. CCDD: Physician: Patient Care: Descriptions Of Disorders: Pierre-Robin Sequence
pierre robin syndrome characteristics of hearing loss, effect ofage on hearing level and possibilities in therapy planning. J
http://www.hopkinsmedicine.org/craniofacial/PatientCare/Article.cfm?ArticleID=67

46. Searchalot Directory For Pierre Robin Syndrome
Sponsored Links. Top Health Conditions and Diseases Rare Disorders Pierre RobinSyndrome (4). Support Groups (0). Related Web Sites.
http://www.searchalot.com/Top/Health/ConditionsandDiseases/RareDisorders/PierreR
Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Rare Disorders : Pierre Robin Syndrome Related Web Sites
  • Pierre Robin Network - Information from a network of parents and family members who have children with Pierre Robin syndrome
  • The CaF Directory - A look at what Pierre Robin Syndrome is, the causes, treatments and a support group based in the United Kingdom.
  • NORD - Pierre Robin Syndrome - A general discussion about this disorder, a list of alternative names and resources.
  • Drkoop.com: Medical Encyclopedia - Pierre Robin syndrome, a description, risks, symptoms, tests, treatment, prognosis and possible complications.
Related Categories All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light

47. Health Library Find Information On Pierre Robin Syndrome At
Find information on pierre robin syndrome at MerckSource. Learn more aboutPierre pierre robin syndrome. Definition A group of abnormalities
http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

48. ThirdAge - Adam - Pierre Robin Syndrome - Overview
pierre robin syndrome. Alternative names Robin sequence. The specific causes ofpierre robin syndrome are unknown; it can be part of many genetic syndromes.
http://thirdage.adam.com/ency/article/001607.htm

49. Welcome To ENH.org - Health Encyclopedia: Pierre Robin Syndrome
pierre robin syndrome. Causes, incidence, and risk factors The specific causes ofpierre robin syndrome are unknown; it can be part of many genetic syndromes.
http://www.enh.org/Encyclopedia/ency/article/001607.asp

Disease Reference
Injury Reference Test Reference Nutrition Reference ... Symptoms Reference
Pierre Robin syndrome
Disease Injury Nutrition Poison ... Z Definition: A group of abnormalities marked primarily by a very small lower jaw with a tongue that falls back and downward. The syndrome may include a high arched palate or cleft palate.
Alternative Names: Robin sequence
Causes, incidence, and risk factors: The specific causes of Pierre Robin syndrome are unknown; it can be part of many genetic syndromes. The lower jaw develops slowly over the first few months of fetal life but catches up over the first year after birth. Posterior placement of the tongue may cause choking episodes, feeding difficulty and breathing difficulties , especially while asleep.
Symptoms:
  • very small jaw with marked receding chin tongue appears large (is actually normal size but big relative to jaw) and is placed unusually far back in the oropharynx high arched palate cleft soft palate choking on tongue natal teeth

Signs and tests: Physical examination is usually sufficient for your health care provider to diagnose this condition.

50. Stomatognathic Diseases
Fibrous Dysplasia, part I, and part II Oral Pathology/USC (US). PierreRobin Syndrome About pierre robin syndrome Surgery - Erlanger
http://www.mic.ki.se/Diseases/c7.html
search help staff
Stomatognathic Diseases
Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases

Search PubMed at NCBI/NLM

51. PIERRE ROBIN SYNDROME, THE (GLOSSOPTOSIS...
Article, pierre robin syndrome, THE (GLOSSOPTOSIS, MICROGNATHIA, CLEFT PALATE) A REVIEW OF 39 CASES WITH EMPHASIS ON ASSOCIATED OCULAR LESIONS.
http://www.cidg.com/Filand/aw3/i/n/m008415.htm
# Article : A0001687 Cote SS Auteur
  • LAWTON SMITH, J. ; STOWE, FRED R. ; Titre MALADIES II - ANOMALIE CONGENITALE (19.35) Article PIERRE ROBIN SYNDROME, THE (GLOSSOPTOSIS, MICROGNATHIA, CLEFT PALATE) : A REVIEW OF 39 CASES WITH EMPHASIS ON ASSOCIATED OCULAR LESIONS Identification NO 13 30 MARS 24 1992 Descripteurs
  • SYNDROME PIERRE ROBIN
  • MALADIE
  • SYNDROME PRADER-WILLI
  • 52. AD HOC BIBLIO - INDEX SUJETS_S 01/06/26
    SYNDROME PIERRE ROBIN pierre robin syndrome, THE (GLOSSOPTOSIS,MICROGNATHIA, CLEFT PALATE) A REVIEW a; SYNDROME DE
    http://www.cidg.com/Filand/aw3/i/mid6s.htm
    S
  • Syndrome "Cat-Eye"...
    Trisomie 22... [m]
  • Syndrome Alcoo-foetal...
    Fetal alcohol syndrome : the preventable tragedy... [m]
  • Syndrome alcoolique du foetus...
    [m]
  • Syndrome alcoolique du foetus...
    Documentation concernant le syndrome alcoolique du foetus... [m]
  • Fetal alcohol syndrome : the preventable tragedy... [m]
  • Syndrome d'alcoolisme foetal... [m]
  • Syndrome aortique supravalvulaire...
    Canadian Association for Williams Syndrome, The... [m]
  • Children with Williams Syndrome and Infantile Hypercalcaemia : Guidelines for Pa... [m]
  • Children with Williams Syndrome and Infantile Hypercalcaemia : Guidelines for Te... [m]
  • Documentation concernant le syndrome de Williams... [m]
  • Documentation concernant le syndrome de Williams... [m]
  • Documentation concernant le syndrome de Williams... [m]
  • [m]
  • [m]
  • Histoire de cas d'un enfant avec le syndrome de William... [m]
  • Propos du syndrome de Williams, A... [m]
  • [m]
  • Syndrome de Williams, Le : recommandations... [m]
  • Syndrome de Williams, Le... [m]
  • Vitamin D metabolites in idiopathic infantile hypercalcaemia... [m]
  • Williams Syndrome...
  • 53. Orthoguide.com Pierre Robin Syndrome
    Search results for pierre robin syndrome . NO MATCHES FOUNDPlease select a differentkeyword or category OR Search AltaVista for 'pierre robin syndrome'.
    http://www.orthoguide.com/ortho/Pierre_Robin_Syndrome.php3
    Search results for "Pierre Robin Syndrome"
    NO MATCHES FOUND-Please select a different keyword or category OR
    Search AltaVista for 'Pierre Robin Syndrome'
    Global Search
    Add Url Free Medline ... Search
    Enter Keywords to Search and Your Choice of Search Arguments
    Or And Match entire phrase Orthoguide.com

    54. MOEBIUS SYNDROME SUPPORT NETWORK HOMEPAGE
    Bringing together information from and links to medical and lay support for those affected by Moebius Category Health Conditions and Diseases Mobius Syndrome...... Moebius Syndrome is sometimes accompanied by pierre robin syndrome andPoland's Anomaly. How does it occur? Children are born with it.
    http://www.ciaccess.com/moebius/
    "Our Smiles Come From Our Hearts"
    What is it?

    What are the Symptoms?

    How does it occur?

    How is it treated?
    ...
    The 12 Cranial Nerves

    Go to www.moebiussyndrome.com to find out about the Last Conference Foundation Resources and Links (Updated August 2002!)
    Read A Letter from Dr. Zuker

    Our Readers Respond

    Moebius Syndrome Conference 2002 (Update Coming)
    Moebius Syndrome News
    Our Scrapbook**New** Some Visually Enhanced Beginnings Country and Regional Roundup ... What is Moebius Syndrome? Moebius Syndrome is a rare disorder characterized by lifetime facial paralysis. People with Moebius Syndrome can't smile or frown, and they often can't blink or move their eyes from side to side. In some instances, the syndrome is also associated with physical problems in other parts of the body. The Moebius Syndrome Foundation is a nonprofit organization started by parents and people with Moebius Syndrome. We've come together to do what we can to fight back - by spreading the word among the medical and lay communities and by supporting research into the causes, treatments, and possible cures for Moebius Syndrome. Moebius Syndrome is extremely rare. Two important nerves - the sixth and seventh cranial nerves - are not fully developed, causing eye muscle and facial paralysis. The movements of the face - blinking, lateral eye movements, and facial expressions are controlled by these nerves. Many of the other

    55. Essential Baby Forum - Pierre Robin Syndrome / Sticklers Syndromw
    Topic pierre robin syndrome / Sticklers Syndromw. cin, 10 Nov 02 @ 1224AM. Looking for any mums with any children who have these conditions.
    http://www.essentialbaby.com.au/CFForum/printthread.cfm?Forum=68&Topic=6621

    56. STOMATOLOGIE
    BAUJAT G., FAURE T., ZAOUCHE A., VIARME FF, COULY G., ABADIE V. Oroesophagealmotor disorders in pierre robin syndrome. J. Pediat. Gastroenterol.
    http://www.necker.fr/irnem/Unites 2001/01stomato.htm
    AMIEL J., FAIVRE L., MARIANOWSKL R., BONNET D., COULY G., MANACH Y., LE MERRER M., CORMIER-DAIRE V., MUNNICH A., LYONNET S.
    Hypertelorism-microtia-clefting syndrome (bixler syndrome): report of two unrelated cases.
    Clin. Dysmorphol., ; (Facteur d'Impact 1999 :
    (Services cités :
    BAUJAT G., FAURE T., ZAOUCHE A., VIARME F.F., COULY G., ABADIE V.
    Oroesophageal motor disorders in pierre robin syndrome.
    J. Pediat. Gastroenterol. Nutr., ; (Facteur d'Impact 1999 :
    (Services cités :
    CHARRIER J.B., BERTOLUS C., BUISSON T., COULY G., BENNACEUR S.
    A case of primitive floor of the mouth paraganglioma in a child: an embryological theory unifying viscerocranium appended paragangliomas.
    Head Neck, ; (Facteur d'Impact 1999 : (Services cités : HOLDER-ESPINASSE M., ABADIE V., CORMIER-DAIRE V., BEYLER C., MANACH Y., MUNNICH A., LYONNET S., COULY G., AMIEL J. Pierre Robin sequence: a series of 117 consecutive cases. J. Pediat., ; (Facteur d'Impact 1999 : (Services cités : A series of 117 cases of Pierre Robin Sequence are classified as isolated (48%), syndromic (35%), and with associated anomalies (17%); the latter group had a poor long-term prognosis. In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 syndromes represent more than 50% of the diagnoses. [References: 15] KOSSOWSKI M., MOM T., GUITTON M., PONCET J.L., BONFILS P., AVAN P.

    57. Health Library - Pierre Robin
    National network. Founded 1999.Support and education for individuals, parents,caregivers and professionals dealing with pierre robin syndrome or sequence.
    http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29p

    58. Pierre-Robin ȯ¾ÆÀÇ ¸¶Ãë°ü¸®
    Facial anomaly. Micrognathia or pierre robin syndrome. Mandibular dysplasia TreacherCollins, Goldenhar. Double cleft lip and palate. Median cleft face syndrome.
    http://medicine.chungbuk.ac.kr/~march/self/pierr/pierrrobbin.htm
    ¿ø¹ßÀûÀÎ ¼ÒÇϾÇÁõ(micrognathia)°ú ÀÌ¿¡ µû¸¥ ÀÌÂ÷ÀûÀÎ ¼³Çϼö(glossoptosis), °¡¼º´ë¼³ (pseudomacroglossia) ºÒ¿ÏÀü ±¸°³¿­, ³ôÀº ÀÔµÁ¤(high arched palate) µî Çô°¡ µÚ·Î ³Á® ÀεÎÈĺ®¿¡ °¡±îÀÌ Àֱ⶧¹®¿¡, Èí±â½¿¡ VenturiÈ¿°ú¿¡ ÀÇÇØ Çô°¡ µÚ·Î »¡·Áµé¾î°¡ º¼º§ºê(ball valve)³·³ ±âµµ¸¦ ¸·¾Æ È£Èí°ï¶õÀÌ ¹ß»ýÇÏ°í, À̸¦ º¸»óÇϱâ À§ÇØ º¸Á¶È£Èí±Ù(accessory respiratory muscle)µéÀÌ °úµµÇÏ°Ô ¿îµ¿ÇÏ¿© ´Á°£µé°ú, Èä°ñ »ó¿¬ ¹× ÇÏ¿¬ ºÎÀ§ÀÇ ÇǺο¡ ÇÔ¸ôÀÌ »ý±â°í, Èí±â½¿¡ ÇùÂøÀ½(stridor)ÀÌ µé¸®°í, ÀæÀº Áú½Ä°ú °©ÀÛ ½º·± »»öÁõ µîÀÌ ÀÖ´Ù. ¨Î ¼·½Ä Àå¾Ö(feeding difficulty) ¨Í º¹¿ÍÀ§³ª cervical hyperextensionÀ¸·Î ±âµµ¸¦ À¯ÁöÇÒ ¼ö ÀÖ°Ô ÇØ ÁØ´Ù. ¨Ï ÇÊ¿äÇϸé ȯ¾Æ ÀÚ½ÅÀÌ Çô¸¦ ¾ÕÂÊÀ¸·Î ÁöÅÊÇÒ ¼ö ÀÖÀ» ¶§±îÁö ¼öÁÖ°£ Çô³¡ Á¤Áߺθ¦ ½Ç·Î ¶°¼­ ¾ÕÀ¸·Î ´ç°Ü alveolar ridge³ª upper lip¿¡ ¿¬°áÇÑ´Ù. ¨Ð ¼·½Ä Àå¾Ö°¡ ½ÉÇÒ °æ¿ì À§·ç(gastrostomy)¸¦ ½ÇàÇÒ ¼öµµ ÀÖ´Ù. ¨Ñ nasopharyngeal tube·Î ±âµµ¸¦ À¯ÁöÇÏ°í Èí±â½ ÇϺÎÀεο¡ ³ªÅ¸³¯ ¼ö ÀÖ´Â À½¾ÐÀ» ¹æÁö ÇÒ ¼ö ÀÖ´Ù.
      -Douglas¹ý(tongue-lip adhesion)
    5. Pierre-Robin ÁõÈıºÀÇ ¸¶ë°úÀû °í·Á ¥¡) mask fitting ; recessed mandible°ú »ó´ëÀûÀ¸·Î Å« Çô·Î ÀÎÇØ ¾î·Á¿ï ¼ö ÀÖ´Ù.

    59. Health Library - Pierre Robin Syndrome
    Search. pierre robin syndrome. pierre robin syndrome is characterized by a combinationof three features, possibly due to the underdevelopment of the lower jaw.
    http://uhcs.universityhealth.org/Library/healthguide/illnessConditions/topic.asp

    60. Facial/ Craniofacial Anomalies
    Weiss, Kabuki Syndrome , Nager Miller Syndrome, neurofibromatosis, Microtia (EarAtresia), Moebius Syndrome, Opitz, pierre robin syndrome, Robinow Syndrome
    http://www.kumc.edu/gec/support/facial_d.html
    Facial anomalies / Craniofacial conditions Apert Syndrome , Arhinia (absent nose) , Blepharophimosis, Crouzon Syndrome ear anomalies Goldenhar Syndrome (hemifacial microsomia) ... Cleft Lip, Cleft Palate Jackson-Weiss, Kabuki Syndrome Nager Miller Syndrome neurofibromatosis , Microtia (Ear Atresia) , Moebius Syndrome, Opitz, Pierre Robin Syndrome Robinow Syndrome , Romberg Syndrome, Stickler Syndrome, Sturge-Weber Syndrome, Treacher Collins syndrome , and other conditions
    AboutFace International, information and emotional support to individuals with facial differences and their families
    123 Edward St., Suite 1003 Toronto, Ontario, Canada M5G 1E2 Phone: 416.597.2229 or 1.800.665.3223 (FACE) Fax: 416.597.8494 E-mail: info@aboutfaceinternational.org Web site: www.aboutfaceinternational.org/main.html

    Craniosynostosis and Positional Plagiocephaly Support
    Web site: www.CAPS2000.org
    Children's Craniofacial Association
    PO Box 280297
    Dallas, TX 75243-4522
    (Tel) 972-994-9902
    (Fax) 972-240-7607 Web Site: www.ccakids.com

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