A Pierre Robin Syndrome with Absent Anterior 2/3 Tongue—A Case Report
Affiliation(s)
1 Department of Pediatrics, Kakatiya Medical College, MGM Hospital, Warangal, India. 2 Department of ENT & HNS, Chalmeda Anand Rao Institute of Medical Sciences, Karimnagar, India.
1 Department of Pediatrics, Kakatiya Medical College, MGM Hospital, Warangal, India. 2 Department of ENT & HNS, Chalmeda Anand Rao Institute of Medical Sciences, Karimnagar, India.
ABSTRACT
The triad of micrognathia, glossoptosis and airway obstruction originally described in 1923 by Pierre Robin, is known as Robin sequence (or Pierre robin sequence “PRS”). PRS is characterized by micrognathia (small and symmetrical receded mandible), glossoptosis (tongue of variable size falls backwards into the post pharyngeal wall), and cleft palate (U or V shaped). We report a case of 2 hours old newborn presented with micrognathia, retrognathia, and glossoptosis and absent anterior two thirds of tongue.
The triad of micrognathia, glossoptosis and airway obstruction originally described in 1923 by Pierre Robin, is known as Robin sequence (or Pierre robin sequence “PRS”). PRS is characterized by micrognathia (small and symmetrical receded mandible), glossoptosis (tongue of variable size falls backwards into the post pharyngeal wall), and cleft palate (U or V shaped). We report a case of 2 hours old newborn presented with micrognathia, retrognathia, and glossoptosis and absent anterior two thirds of tongue.
Cite this paper
Surender, K. , Vasudev, K. , Balaram, B. , Vijay Raj, C. and Jadi, L. (2015) A Pierre Robin Syndrome with Absent Anterior 2/3 Tongue—A Case Report. International Journal of Otolaryngology and Head & Neck Surgery, 4, 417-422. doi: 10.4236/ijohns.2015.46067.
Surender, K. , Vasudev, K. , Balaram, B. , Vijay Raj, C. and Jadi, L. (2015) A Pierre Robin Syndrome with Absent Anterior 2/3 Tongue—A Case Report. International Journal of Otolaryngology and Head & Neck Surgery, 4, 417-422. doi: 10.4236/ijohns.2015.46067.
References
[1] Pruzansky, S. (1969) Not All Dwarfed Mandibles Are Alike. Birth Defects, 5, 120-129. [2] Olasoji, H.O., Ambe, P.J. and Adesina, O.A. (2007) Pierre Robin Syndrome: An Update. Nigerian Postgraduate Medical Journal, 14, 140-145. [3] Shprintzen, R.J. (1992) The Implications of the Diagnosis of Robin Sequence. Cleft Palate-Craniofacial Journal, 29, 205-209.
http://dx.doi.org/10.1597/1545-1569(1992)029<0205:TIOTDO>2.3.CO;2 [4] Marques, I.L., Barbieri, M.A. and Bettiol, H. (1998) Etiopathogenesis of Isolated Robin Sequence. Cleft Palate-Craniofacial Journal, 35, 517-525.
http://dx.doi.org/10.1597/1545-1569(1998)035<0517:EOIRS>2.3.CO;2 [5] Holder-Espinasse, M., Abadie, V., Cormier-Daire, V., et al. (2001) Pierre Robin Sequence: A Series of 117 Consecutive Cases. Journal of Pediatrics, 139, 588-590.
http://dx.doi.org/10.1067/mpd.2001.117784 [6] Jakobsen, L.P., Ullmann, R., Christensen, S.B., et al. (2007) Pierre Robin Sequence May Be Caused by Dysregulation of SOX9 and KCNJ2. Journal of Medical Genetics, 44, 381-386.
http://dx.doi.org/10.1136/jmg.2006.046177 [7] Benko, S., Fantes, J.A., Amiel, J., Kleinjan, D.J., Thomas, S., Ramsay, J., et al. (2009) Highly Conserved Non-Coding Elements on Either Side of SOX9 Associated with Pierre Robin Sequence. Nature Genetics, 41, 359-364.
http://dx.doi.org/10.1038/ng.329 [8] Hanson, J.W. and Smith, D.W. (1975) U-Shaped Palatal Defect in the Robin Anomalad: Developmental and Clinical Relevance. Journal of Pediatrics, 87, 30-33.
http://dx.doi.org/10.1016/S0022-3476(75)80063-1 [9] Williams, A.J., Williams, M.A., Walker, C.A. and Bush, P.G. (1981) The Robin Anomalad (Pierre Robin Syndrome)— A Follow-Up Study. Archives of Disease in Childhood, 45, 663-668.
http://dx.doi.org/10.1136/adc.56.9.663 [10] Caouette-Laberge, L., Bayet, B. and Larocque, Y. (1994) The Pierre Robin Sequence: Review of 125 Cases and Evolution of Treatment Modalities. Plastic and Reconstructive Surgery, 93, 934-942.
http://dx.doi.org/10.1097/00006534-199404001-00006 [11] Marques, I.L., de Sousa, T.V., Carneiro, A.F., Peres, S.P., Barbieri, M.A. and Bettiol, H. (2005) Robin Sequence: A Single Treatment Protocol. Jornal de Pediatria, 81, 14-22. [In Portuguese]
http://dx.doi.org/10.2223/JPED.1277 [12] Evans, K., Hing, A.V. and Cunningham, M. (1331) Craniofacial Malformations, Micrognathia/Robin Sequence: Avery’s Diseases of New Born. 9th Edition, 95. [13] Singer, L. and Sidoti, E.J. (1992) Pediatric Management of Robin Sequence. Cleft Palate-Craniofacial Journal, 29, 220-223.
http://dx.doi.org/10.1597/1545-1569(1992)029<0220:PMORS>2.3.CO;2 [14] Myer, C.M., Reed, J.M., Cotton, RT, Willging, J.P. and Shott, S.R. (1998) Airway Management in Pierre Robin Sequence. Otolaryngology—Head and Neck Surgery, 118, 630-635.
http://dx.doi.org/10.1177/019459989811800511 [15] Benjamin, B. and Walker, P. (1991) Management of Airway Obstruction in Pierre Robin Sequence. International Journal of Pediatric Otorhinolaryngology, 22, 23-27.
http://dx.doi.org/10.1016/0165-5876(91)90094-R [16] (2005) Robin Sequence: Smiths Recognizable Patterns of Human Malformation. 6th Edition, 262. [17] Singh, I. and Pal, G.P. (2001) Human Embryology. 7th Edition, 161-162. [18] Sadler, T. (2004) Head and Neck. Sun B. Langman’s Medical Embryology. 9th Edition, Lippincott Williams & Wilkins, Philadelphia, 382-390. [19] Gray, H. (1918) Anatomy of the Human Body. Lea & Febiger, Philadelphia.
http://dx.doi.org/10.5962/bhl.title.20311
[1] Pruzansky, S. (1969) Not All Dwarfed Mandibles Are Alike. Birth Defects, 5, 120-129. [2] Olasoji, H.O., Ambe, P.J. and Adesina, O.A. (2007) Pierre Robin Syndrome: An Update. Nigerian Postgraduate Medical Journal, 14, 140-145. [3] Shprintzen, R.J. (1992) The Implications of the Diagnosis of Robin Sequence. Cleft Palate-Craniofacial Journal, 29, 205-209.
http://dx.doi.org/10.1597/1545-1569(1992)029<0205:TIOTDO>2.3.CO;2 [4] Marques, I.L., Barbieri, M.A. and Bettiol, H. (1998) Etiopathogenesis of Isolated Robin Sequence. Cleft Palate-Craniofacial Journal, 35, 517-525.
http://dx.doi.org/10.1597/1545-1569(1998)035<0517:EOIRS>2.3.CO;2 [5] Holder-Espinasse, M., Abadie, V., Cormier-Daire, V., et al. (2001) Pierre Robin Sequence: A Series of 117 Consecutive Cases. Journal of Pediatrics, 139, 588-590.
http://dx.doi.org/10.1067/mpd.2001.117784 [6] Jakobsen, L.P., Ullmann, R., Christensen, S.B., et al. (2007) Pierre Robin Sequence May Be Caused by Dysregulation of SOX9 and KCNJ2. Journal of Medical Genetics, 44, 381-386.
http://dx.doi.org/10.1136/jmg.2006.046177 [7] Benko, S., Fantes, J.A., Amiel, J., Kleinjan, D.J., Thomas, S., Ramsay, J., et al. (2009) Highly Conserved Non-Coding Elements on Either Side of SOX9 Associated with Pierre Robin Sequence. Nature Genetics, 41, 359-364.
http://dx.doi.org/10.1038/ng.329 [8] Hanson, J.W. and Smith, D.W. (1975) U-Shaped Palatal Defect in the Robin Anomalad: Developmental and Clinical Relevance. Journal of Pediatrics, 87, 30-33.
http://dx.doi.org/10.1016/S0022-3476(75)80063-1 [9] Williams, A.J., Williams, M.A., Walker, C.A. and Bush, P.G. (1981) The Robin Anomalad (Pierre Robin Syndrome)— A Follow-Up Study. Archives of Disease in Childhood, 45, 663-668.
http://dx.doi.org/10.1136/adc.56.9.663 [10] Caouette-Laberge, L., Bayet, B. and Larocque, Y. (1994) The Pierre Robin Sequence: Review of 125 Cases and Evolution of Treatment Modalities. Plastic and Reconstructive Surgery, 93, 934-942.
http://dx.doi.org/10.1097/00006534-199404001-00006 [11] Marques, I.L., de Sousa, T.V., Carneiro, A.F., Peres, S.P., Barbieri, M.A. and Bettiol, H. (2005) Robin Sequence: A Single Treatment Protocol. Jornal de Pediatria, 81, 14-22. [In Portuguese]
http://dx.doi.org/10.2223/JPED.1277 [12] Evans, K., Hing, A.V. and Cunningham, M. (1331) Craniofacial Malformations, Micrognathia/Robin Sequence: Avery’s Diseases of New Born. 9th Edition, 95. [13] Singer, L. and Sidoti, E.J. (1992) Pediatric Management of Robin Sequence. Cleft Palate-Craniofacial Journal, 29, 220-223.
http://dx.doi.org/10.1597/1545-1569(1992)029<0220:PMORS>2.3.CO;2 [14] Myer, C.M., Reed, J.M., Cotton, RT, Willging, J.P. and Shott, S.R. (1998) Airway Management in Pierre Robin Sequence. Otolaryngology—Head and Neck Surgery, 118, 630-635.
http://dx.doi.org/10.1177/019459989811800511 [15] Benjamin, B. and Walker, P. (1991) Management of Airway Obstruction in Pierre Robin Sequence. International Journal of Pediatric Otorhinolaryngology, 22, 23-27.
http://dx.doi.org/10.1016/0165-5876(91)90094-R [16] (2005) Robin Sequence: Smiths Recognizable Patterns of Human Malformation. 6th Edition, 262. [17] Singh, I. and Pal, G.P. (2001) Human Embryology. 7th Edition, 161-162. [18] Sadler, T. (2004) Head and Neck. Sun B. Langman’s Medical Embryology. 9th Edition, Lippincott Williams & Wilkins, Philadelphia, 382-390. [19] Gray, H. (1918) Anatomy of the Human Body. Lea & Febiger, Philadelphia.
http://dx.doi.org/10.5962/bhl.title.20311