eMedicine Specialties > Pediatrics: Surgery > Otolaryngology

Pierre Robin Malformation: Differential Diagnoses & Workup

Author: Marie M Tolarova, MD, PhD, DSc, Professor and Executive Director, UOP Craniofacial Team, Cleft Prevention Program, Department of Orthodontics, University of the Pacific School of Dentistry
Contributor Information and Disclosures

Updated: Mar 25, 2009

Differential Diagnoses

Beckwith-Wiedemann Syndrome
Obstructive Sleep Apnea Syndrome
CHARGE Syndrome
Pectus Excavatum
Cleft Lip and Palate
Stridor
DiGeorge Syndrome
Velocardiofacial Syndrome
Fetal Alcohol Syndrome
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Multiple Births

Other Problems to Be Considered

The first diagnostic consideration should be to specify whether Robin sequence (RS) is an isolated condition. The most common syndrome with Robin sequence is autosomal dominant Stickler syndrome. In this syndrome, mutations in the COL2A1 or COL11A1 genes cause connective tissue dysplasia that results in a short ramus and antegonial notching of the mandibular body and subsequent micrognathia.

Different forms of Robin complexes also occur. Cohen gives an example of 2 different forms: the 22q11.2 deletion syndrome (ie, velocardiofacial syndrome, Shprintzen syndrome, DiGeorge syndrome, or conotruncal anomalies/face syndrome) and spondyloepiphyseal dysplasia congenita.33 In the 22q11.2 deletion syndrome, retrognathia and cleft palate are present. Pharyngeal obstruction is caused by hypotonia, not by a flat cranial base angle and retrognathia. Thus, Robin sequence is not present. Rather, in this form of Robin complex, all manifestations are causally, but not sequentially, related.32

Workup

Imaging Studies

  • When Robin sequence (RS) is diagnosed, diagnostic tests such as bone radiographs are appropriate to assess for other suspected syndromes.

Other Tests

  • When Robin sequence is diagnosed, a full genetic evaluation (fluorescent in situ hybridization [FISH] for 22q deletion, test for mutation in Treacle [TCOF1] gene) is appropriate.
  • An ophthalmology examination is also appropriate to assess for suspected syndromes.

More on Pierre Robin Malformation

Overview: Pierre Robin Malformation
Differential Diagnoses & Workup: Pierre Robin Malformation
Treatment & Medication: Pierre Robin Malformation
Follow-up: Pierre Robin Malformation
Multimedia: Pierre Robin Malformation
References
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References

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Further Reading

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Keywords

Pierre Robin malformation, Pierre Robin syndrome, Robin sequence, Pierre Robin anomalad, Robin complexes, Pierre Robin malformation complex, syndromic Robin sequence, nonsyndromic Robin sequence, Velocardiofacial syndrome, Stickler syndrome, Stickler's syndrome, autosomal dominant Stickler syndrome, Treacher Collins syndrome, Nager syndrome, spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia congenita, SED, cleft palate, CP, connective tissue dysplasia, 22q11.2 deletion syndrome, spondyloepiphyseal dysplasia congenita, respiratory distress, micrognathia, glossoptosis, oligohydramnios, treatment, diagnosis, orofacial cleft, hypoxia, cor pulmonale, failure to thrive, cerebral impairment

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Contributor Information and Disclosures

Author

Marie M Tolarova, MD, PhD, DSc, Professor and Executive Director, UOP Craniofacial Team, Cleft Prevention Program, Department of Orthodontics, University of the Pacific 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.

Medical Editor

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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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, The Pediatric Surgery Center
Alan D Murray, MD 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.

CME Editor

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

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