Robin sequence without cleft palate: Genetic diagnoses and management implications.
Robin sequence
cleft palate
genetics
micrognathia
syndrome
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
revised:
10
08
2021
received:
11
05
2021
accepted:
05
09
2021
pubmed:
28
9
2021
medline:
8
4
2022
entrez:
27
9
2021
Statut:
ppublish
Résumé
Robin sequence (RS), the triad of micrognathia, glossoptosis, and airway obstruction, is a major cause of respiratory distress and feeding difficulties in neonates. Robin sequence can be associated with other medical or developmental comorbidities in ~50% of cases ("syndromic" RS). As well, RS is variably associated with cleft palate (CP). Previous studies have not investigated differences in clinical characteristics of children with RS based on presence or absence of CP. We retrospectively reviewed 175 children with RS and compared genetic diagnoses, medical and developmental comorbidities, severity of airway obstruction, and feeding outcomes between those with and without CP. Strikingly, 45 of 45 (100%) children with RS without CP were classified as syndromic due to presence of comorbidities unrelated to RS, while 83 of 130 (64%) children with RS with CP were classified as syndromic. Among 128 children with syndromic RS, there were no differences in severity of airway obstruction, surgical intervention rate or type, or feeding outcome at 12 months based on CP status. Our findings support the conclusion that the pathogenesis of RS without CP is distinct from RS with CP and more likely to cause additional medical or developmental problems. Alternatively, children with RS without CP and without additional anomalies present may be under recognized.
Identifiants
pubmed: 34569146
doi: 10.1002/ajmg.a.62515
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
160-177Subventions
Organisme : NCATS NIH HHS
ID : 5UL1TR001425-04
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01DE027091
Pays : United States
Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Anderson, I. C., Sedaghat, A. R., McGinley, B. M., Redett, R. J., Boss, E. F., & Ishman, S. L. (2011). Prevalence and severity of obstructive sleep apnea and snoring in infants with Pierre Robin sequence. The Cleft Palate-Craniofacial Journal, 48(5), 614-618.
Basart, H., Paes, E. C., Maas, S. M., van den Boogaard, M. J., van Hagen, J. M., Breugem, C. C., Cobben, J. M., Don Griot, J. P., Lachmeijer, A. M., Lichtenbelt, K. D., van Nunen, D. P., van der Horst, C. M., & Hennekam, R. C. (2015). Etiology and pathogenesis of robin sequence in a large Dutch cohort. American Journal of Medical Genetics. Part A, 167A(9), 1983-1992.
Bookman, L. B., Melton, K. R., Pan, B. S., Bender, P. L., Chini, B. A., Greenberg, J. M., Saal, H. M., Taylor, J. A., & Elluru, R. G. (2012). Neonates with tongue-based airway obstruction: A systematic review. Otolaryngology and Head and Neck Surgery, 146(1), 8-18.
Breugem, C. C., Evans, K. N., Poets, C. F., Suri, S., Picard, A., Filip, C., Paes, E. C., Mehendale, F. V., Saal, H. M., Basart, H., Murthy, J., Joosten, K. F., Speleman, L., Collares, M. V., van den Boogaard, M. J., Muradin, M., Andersson, M. E., Kogo, M., Farlie, P. G., … Hong, P. (2016). Best practices for the diagnosis and evaluation of infants with Robin sequence: A clinical consensus report. JAMA Pediatrics, 170(9), 894-902.
Coutier, L., Bierme, P., Thieux, M., Guyon, A., Ioan, I., Reix, P., & Franco, P. (2020). The role of sleep laboratory polygraphy in the evaluation of obstructive sleep apnea syndrome in Robin infants. Sleep Medicine, 72, 59-64.
Daniel, M., Bailey, S., Walker, K., Hensley, R., Kol-Castro, C., Badawi, N., Cheng, A., & Waters, K. (2013). Airway, feeding and growth in infants with Robin sequence and sleep apnoea. International Journal of Pediatric Otorhinolaryngology, 77(4), 499-503.
Evans, A. K., Rahbar, R., Rogers, G. F., Mulliken, J. B., & Volk, M. S. (2006). Robin sequence: A retrospective review of 115 patients. International Journal of Pediatric Otorhinolaryngology, 70(6), 973-980.
Flores, R. L., Greathouse, S. T., Costa, M., Tahiri, Y., Soleimani, T., & Tholpady, S. S. (2015). Defining failure and its predictors in mandibular distraction for Robin sequence. Journal of Cranio-Maxillo-Facial Surgery, 43(8), 1614-1619.
Gilhooly, J. T., Smith, J. D., Howell, L. L., Deschaine, B. L., & Richey, S. L. (1993). Bedside polysomnography as an adjunct in the management of infants with Robin sequence. Plastic and Reconstructive Surgery, 92(1), 23-27.
Gomez-Ospina, N., & Bernstein, J. A. (2016). Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies. American Journal of Medical Genetics. Part A, 170A(4), 870-880.
Holder-Espinasse, M., Abadie, V., Cormier-Daire, V., Beyler, C., Manach, Y., Munnich, A., Lyonnet, S., Couly, G., & Amiel, J. (2001). Pierre Robin sequence: A series of 117 consecutive cases. The Journal of Pediatrics, 139(4), 588-590.
Izumi, K., Konczal, L. L., Mitchell, A. L., & Jones, M. C. (2012). Underlying genetic diagnosis of Pierre Robin sequence: Retrospective chart review at two children's hospitals and a systematic literature review. The Journal of Pediatrics, 160(4), 645-650 e642.
Kam, K., McKay, M., MacLean, J., Witmans, M., Spier, S., & Mitchell, I. (2015). Surgical versus nonsurgical interventions to relieve upper airway obstruction in children with Pierre Robin sequence. Canadian Respiratory Journal, 22(3), 171-175.
Logjes, R. J., van den Aardweg, M. T., Blezer, M. M., van der Heul, A. M., & Breugem, C. C. (2017). Velopharyngeal insufficiency treated with levator muscle repositioning and unilateral myomucosal buccinator flap. Journal of Cranio-Maxillo-Facial Surgery, 45(1), 1-7.
MacLean, J. E., Fitzsimons, D., Fitzgerald, D. A., & Waters, K. A. (2012). The spectrum of sleep-disordered breathing symptoms and respiratory events in infants with cleft lip and/or palate. Archives of Disease in Childhood, 97(12), 1058-1063.
Robin, N. H., Moran, R. T., & Ala-Kokko, L. (1993-2021). Stickler syndrome. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa, & A. Amemiya (Eds.), GeneReviews([R]). Seattle (WA): University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1302/
Runyan, C. M., Uribe-Rivera, A., Tork, S., Shikary, T. A., Ehsan, Z., Weaver, K. N., Hossain, M. M., Gordon, C. B., & Pan, B. S. (2018). Management of airway obstruction in infants with pierre Robin sequence. Plastic and Reconstructive Surgery. Global Open, 6(5), e1688.
Smith, J. D. (1981). Treatment of airway obstruction in Pierre Robin syndrome. A modified lip-tongue adhesion. Archives of Otolaryngology, 107(7), 419-421.
Smith, M. C., & Senders, C. W. (2006). Prognosis of airway obstruction and feeding difficulty in the Robin sequence. International Journal of Pediatric Otorhinolaryngology, 70(2), 319-324.
Stubenitsky, B. M., Taylor, H. O., Peters, D., Kelly, C., Harkness, M., & Forrest, C. (2010). Predictive value of weight gain and airway obstruction in isolated Robin sequence. The Cleft Palate-Craniofacial Journal, 47(4), 378-381.
Thouvenin, B., Djadi-Prat, J., Chalouhi, C., Pierrot, S., Lyonnet, S., Couly, G., & Abadie, V. (2013). Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes. American Journal of Medical Genetics. Part A, 161A(2), 312-319.
Wilson, A. C., Moore, D. J., Moore, M. H., Martin, A. J., Staugas, R. E., & Kennedy, J. D. (2000). Late presentation of upper airway obstruction in Pierre Robin sequence. Archives of Disease in Childhood, 83(5), 435-438.