Associated anomalies in Pierre Robin sequence.
airway obstruction
associated anomalies
cleft palate
glossoptosis
micrognathia
retrognathia
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:
09 2023
09 2023
Historique:
revised:
08
06
2023
received:
10
01
2023
accepted:
22
06
2023
medline:
21
8
2023
pubmed:
21
7
2023
entrez:
21
7
2023
Statut:
ppublish
Résumé
Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co-occurring with PRS in a well-studied population northeastern France. The types and the prevalence of anomalies co-occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population-based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non-PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non-chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS.
Identifiants
pubmed: 37477275
doi: 10.1002/ajmg.a.63344
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2312-2323Informations de copyright
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
Références
Basart, H., Paes, E. C., Maas, S. M., Boogaard, M. H. D., Hagen, J. M., Breugem, C. C., & Hennekam, R. C. (2015). Etiology and pathogenesis of robin sequence in a large Dutch cohort. American Journal of Medical Genetic. Part A, 167A(9), 1983-1992.
Breugem, C. C., & Courtemanche, D. J. (2010). Robin sequence: Clearing nosologic confusion. Cleft Palate Craniofacial Journal, 47, 197-200.
Bush, A., & Williams, P. G. (1983). Incidence of the Robin anomalad (Pierre Robin Syndrome). British Journal of Plastic Surgery, 36, 434-437.
Butow, K. W., Hoogendijk, C. F., & Zwahlen, R. A. (2009). Pierre Robin sequence: Appearances and 25 years of experience with an innovative treatment protocol. Journal of Pediatric Surgery, 44, 2112-2118.
Caouette-Laberge, L., Bayet, B., & Larocque, Y. (1994). The Pierre Robin sequence: Reviewof 125 cases and evolution of treatment modalities. Plastic and Reconstructive Surgery, 93, 934-942.
Cleary, B., Loane, M., Addor, M.-C., Barisic, I., de Walle, H. E. K., Dias, C. M., & Neville, A. (2020). Methadone, Pierre Robin sequence and other congenital anomalies. Archives of Disease in Childhood-Fetal and Neonatal Edition, 105(2), 151-157.
Cohen, M. M. (1999). Robin sequences and complexes: Causal heterogeneity and pathogenetic/phenotypic variability. American Journal of Medical Genetics, 4, 311-315.
Costa, M. A., Tu, M. M., Murage, K. P., Tholpady, S. S., Engle, W. A., & Flores, R. L. (2014). Robin sequence: Mortality, causes of death, and clinical outcomes. Plastic and Reconstructive Surgery, 134, 738-745.
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, 973-980.
Filip, C., Billaud Feragen, K., Skartveit Lemvik, J., Lindberg, N., Andersson, E. M., & Høgevold HE, R. M. (2015). Multidisciplinary aspects of 104 patients with Pierre Robin sequence. The Cleft Palate-Craniofacial Journal, 52(6), 732-742.
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.
Flores, R. L., Tholpady, S. S., Sati, S., Fairbanks, G., Socas, J., Choi, M., & Havlik, R. J. (2014). The surgical correction of Pierre Robin sequence: Mandibular distraction osteogenesis versus tongue-lip adhesion. Plastic and Reconstructive Surgery, 6, 1433-1439.
Glynn, F., Fitzgerald, D., Earley, M. J., & Rowley, H. (2011). Pierre Robin sequence: An institutional experience in the multidisciplinary management of airway, feeding and serous otitis media challenges. International Journal of Pediatric Otorhinolaryngology, 75(9), 1152-1155.
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 Genetic. Part A, 170A, 870-880.
Hanson, J. W., & Smith, D. W. (1975). U-shaped palatal defect in the Pierre Robin anomalad: Developmental and clinical relevance. Journal of Pediatrics, 87, 30-33.
Hennekam, R. C., Biesecker, L. G., Allanson, J. E., Hall, J. G., Opitz, J. M., Temple, I. K., & Carey, J. C. (2013). Elements of morphology: General terms for congenital anomalies. American Journal of Medical Genetics. Part A, 161A, 2726-2733.
Holder-Espinasse, M., Abadie, V., Cormier-Daire, V., Beyler, C., Manach, Y., Munnich, A., & Amiel, J. (2001). Pierre Robin sequence: A series of 117 consecutive cases. Journal of Pediatrics, 139, 588-590.
Honein, M. A., Rasmussen, S. A., Reefhuis, J., Romitti, P. A., Lammer, E. J., Sun, L., & Correa, A. (2007). Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts. Epidemiology, 18, 226-233.
Hsieh, Y. Y., Chang, C. C., Tsai, H. D., Yang, T. C., Lee, C. C., & Tsai, C. H. (1999). The prenatal diagnosis of Pierre-Robin sequence. Prenatal Diagnosis, 19, 567-569.
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. Journal of Pediatrics, 160(645-650), e642.
Junaid, M., Slack-Smith, L., Wong, K., Bourke, J., Baynam, G., Calache, H., & Leonard, H. (2022). Epidemiology of rare craniofacial anomalies: Retrospective Western Australian population data linkage study. Journal of Pediatrics, 241(162-172), e9.
Kallen, B., Harris, J., & Robert, E. (1996). The epidemiology of orofacial clefts 2. Associated malformations. Journal of Craniofacial Genetics and Developmental Biology, 16(4), 242-248.
Lary, J. M., & Paulozzi, L. J. (2001). Sex differences in the prevalence of human birth defects: A population-based study. Teratology, 64, 237-251.
Logjes, R. J. H., Breugem, C. C., Van Haaften, G., Paes, E. C., Sperber, G. H., van den Boogaard, M.-J. H., & Farlie, P. G. (2018). The ontogeny of Robin sequence. American Journal of Medical Genetics, Part A, 176A, 1349-1368.
Lowry, R. B., Bedard, T., Sibbald, B., Harder, J. R., Trevenen, C., Horobec, V., & Dyck, J. D. (2013). Congenital heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995-2002. Birth Defects Research (Part A) Clinical and Molecular Teratolology, 97(2), 79-86.
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., & Ledbetter, D. H. (2010). Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 86(5), 749-764.
Paes, E. C., van Nunen, D. P., Basart, H., Don Griot, J. P., van Hagen, J. M., van der Horst, C., & Breugem, C. C. (2015). Birth prevalence of Robin sequence in The Netherlands from 2000-2010: A retrospective population-based study in a large Dutch cohort and review of the literature. American Journal of Medical Genetics Part A, 167 A, 1972-1982.
Printzlau, A., & Andersen, M. (2004). Pierre Robin sequence in Denmark: Aretrospective population-based epidemiological study. Cleft Palate Craniofacial Journal, 41, 47-52.
Queißer-Luft, A., & Spranger, J. (2006). Congenital malformations. Deutsches Ärzteblatt, 103A, 2464-2471.
Rasmussen, S. A., Olney, R. S., Holmes, L. B., Lin, A. E., Keppler-Noreuil, K. M., Moore, C. A., & National Birth Defects Prevention Study. (2003). Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Research (Part A) Clinical and Molecular Teratology, 67(3), 193-201.
Santoro, M., Coi, A., Barišić, I., Pierini, A., Addor, M. C., Baldacci, S., Ballardini, E., Boban, L., Braz, P., Cavero-Carbonell, C., de Walle, H. E. K., Draper, E. S., Gatt, M., Haeusler, M., Klungsøyr, K., Kurinczuk, J. J., Materna-Kiryluk, A., Lanzoni, M., Lelong, N., … Garne, E. (2021). Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study. Paediatric Perinatology Epidemiology, 35(5), 530-539.
Scott, R. S., & Mader, S. M. (2014). Regional variations in the presentation and surgical management of Pierre Robin sequence. Laryngoscope, 124, 2818-2825.
Sheffield, L. J., Reiss, J. A., Strohm, K., & Gilding, M. (1987). A genetic followup study of 64 patients with the Pierre Robin complex. American Journal of Medical Genetics, 28, 25-36.
Shprintzen, R. J. (1988). Pierre Robin, micrognathia, and airway obstruction: The dependency of treatment on accurate diagnosis. International Anesthesiology Clinics, 26, 64-71.
Shprintzen, R. J. (1992). The implications of the diagnosis of Robin sequence. Cleft Palate Craniofacial Journal, 29, 205-209.
Stoll, C. (1985). The northeastern France birth defects monitoring system. Progress in Clinical Research, 163B, 157-162.
Stoll, C., Alembik, Y., Dott, B., & Roth, M.-P. (2010). Associated malformations in patients with limb reduction deficiencies. European Journal of Medical Genetics, 53(5), 286-290.
Thouvenin, B., Djadi-Prat, J., Chalouhi, C., Pierrot, P., 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.
van den Elzen, A. P., Semmekrot, B. A., Bongers, E. M., Huygen, P. L., & Marres, H. A. (2001). Diagnosis and treatment of the Pierre Robin sequence: Results of a retrospective clinical study and review of the literature. European Journal of Pediatrics, 160, 47-53.
Vatlach, S., Maas, C., & Poets, C. F. (2014). Birth prevalence and initial treatment of Robin sequence in Germany: A prospective epidemiologic study. Orphanet Journal of Rare Disease, 9, 9-14.
Weaver, K. N., Sullivan, B. R., Balow, S. A., Hopkin, S., Chini, B. A., Pan, B. S., & Saal, H. M. (2022). Robin sequence without cleft palate: Genetic diagnoses and management implications. American Journal of Medical Genetics, Part A, 188A, 160-177. https://doi.org/10.1002/ajmg.a.62515
Williams, A. J., Williams, M. A., Walker, C. A., & Bush, P. G. (1981). The Robin anomalad (Pierre Robin syndrome) a follow up study. Archives of Disease in Childhood, 56(3), 663-668.
Wright, M., Mehendale, F., & Urquhart, D. S. (2018). Epidemiology of Robin sequence with cleft palate in the east of Scotland between 2004 and 2013. Pediatric Pulmonology, 53(8), 1040-1045.