Pierre Robin Malformation Clinical Presentation

  • Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Glenn C Isaacson, MD, FACS, FAAP   more...
 
Updated: Mar 13, 2012
 

History

Airway obstruction with Robin sequence (RS), if very severe or not properly managed, may lead to hypoxia, cor pulmonale, failure to thrive, and cerebral impairment. Syndromic cases and Robin complexes are usually more severe and have worse prognoses than nonsyndromic Robin sequence. Mortality rates as high as 30% have been reported.[31] Neonates with Robin sequence should be carefully monitored because a significant airway obstruction may develop during the first 1-4 weeks of life.

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Causes

Suggested causes of Robin sequence and Robin complexes include malformation, deformation, or connective tissue dysplasia.[32] Because of differences in pathogenetic causes and phenotypes, various forms of Robin sequence or Robin complexes can occur (see the image below).

Robin sequence and complexes. Robin sequence and complexes.

For example, a pure exogenous factor such as oligohydramnios causing mandibular constraint leads to a failure of the tongue to descend and starts a sequence that ends as a Robin sequence (deformation sequence). However, intrinsic intrauterine mandibular hypoplasia that may be part of a complex of anomalies (syndrome) caused by a chromosomal aberration can cause the same problem (ie, failure of the tongue to descend), and it ends in exactly the same way as the previous example (malformation sequence); yet, the first is a deformation sequence, whereas the latter is a malformation sequence.

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Contributor Information and Disclosures
Author

Marie M Tolarova, MD, PhD, DSc  Professor and Executive Director Pacific Craniofacial Team and Cleft Prevention Program, University of the Pacific, Dugoni School of Dentistry

Marie M Tolarova, MD, PhD, DSc, is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American Society of Human Genetics, and International Association for Dental Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Orval Brown, MD  Director of Otolaryngology Clinic, Professor, Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas

Orval Brown, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American Bronchoesophagological Association, American College of Surgeons, American Medical Association, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, and Society of University Otolaryngologists-Head and Neck Surgeons

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Alan D Murray  MD, Pediatric Otolaryngologist, ENT for Children; Full-Time Staff, Medical City Dallas Children's Hospital; Consulting Staff, Department of Otolaryngology, Medical Center of Lewisville, Children's Medical Center at Dallas, Cook Children's Medical Center; Full-Time Staff, Texas Pediatric Surgery Center, Cook Children's Pediatric Surgery Center Plano

Alan D Murray is a member of the following medical societies: Alpha Omega Alpha, American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American College of Surgeons, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, and Texas Medical Association

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Glenn C Isaacson, MD, FACS, FAAP  Professor of Otolaryngology-Head and Neck Surgery and Pediatrics, Temple University School of Medicine

Glenn C Isaacson, MD, FACS, FAAP is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American Bronchoesophagological Association, American College of Surgeons, American Laryngological Rhinological and Otological Society, American Society of Pediatric Otolaryngology, and Society of University Otolaryngologists-Head and Neck Surgeons

Disclosure: Covidien Honoraria Consulting

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous coauthors Craig W Senders, MD, and Alex M Espinoza, MD, to the original development and writing of this article.

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Three-week-old baby boy affected with nonsyndromic Robin sequence.
One-month-old baby affected with nonsyndromic Robin sequence.
Patient from Media file 2 at age 4 years. The profile is almost normal because of catch-up growth.
Patient from Media file 2.
U-shaped and V-shaped cleft palates.
Eight-year-old boy with Stickler syndrome. Note a flat, hypotonic face and small mandible. He also has a U-shaped, wide cleft palate (CP). His mandible does not show catch-up growth. He is a mouth-breather and snores. He is using his CP as an airway. A closing of the CP without preparation would compromise his airway passage. The authors recommend placement of an obturator (perhaps with a speech bulb) for a couple of hours a day at first and gradually increasing the time. After a few months, when the child will have changed his breathing pattern, the palate can be closed.
Eight-year-old boy with Stickler syndrome from the previous picture. Note a flat, hypotonic face and a small mandible. His mandible does not show catch-up growth.
Eight-year-old boy with Stickler syndrome from previous 2 pictures. Note a U-shaped, wide cleft palate.
Robin sequence in some recognized and unrecognized syndromes.
Robin sequence and complexes.
Robin sequences and complexes.
Child with Pierre Robin Sequence prior to distraction osteogenesis.
Distraction osteogenesis is completed, and the bone is consolidating.
 
 
 
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