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Aplasia of the First and Second Branchial Arches

Aplasia of the First and Second Branchial Arches Abstract The rare lethal syndrome of microstomia, aglossia, agnathia, and synotia (otocephalus, otocephalia) is the most severe form of the so-called first arch anomalies. A baby with this combination of malformations offered an opportunity to study the pathologic morphology of structures derived from first and second arch anlage. Although the pathologic anatomy varies from case to case, the observations of several authors along with our findings posed questions regarding the embryology of the midface, cranial base, and derivatives of the first two branchial arch structures. Current concepts require critical revision in order to logically classify the myriad of deformities that are presently designated first and second arch malformations. References 1. Gorlin RJ, Pindborg JJ: Syndromes of the Head and Neck . New York, Blakiston Medical Book Division, McGraw-Hill Book Co Inc, 1964, pp 368-369. 2. Ruben A (ed): Handbook of Congenital Malformation . Philadelphia, WB Saunders Co, 1967, p 141. 3. Arey LB: Developmental Anatomy . Philadelphia, WB Saunders Co, 1965. 4. Pearson AA, et al: The Development of the Ear . Minneapolis, American Academy of Ophthalmology and Otolaryngology, 1967. 5. Rogers BO: Microtia, "lop," "cup," and protruding ears: Four directly related congenital deformities , in Longacre JJ (ed): Craniofacial Anomalies . Philadelphia, JB Lippincott Co, 1968, chap 11. 6. Wood-Jones F, I-Chuan W: The development of the external ear . J Anat 68:525-533, 1934. 7. Streeter GL: Development of the auricle in the human embryo , in Contributions to Embryology . Washington, DC, Carnegie Institute, 1922, vol 14, pp 111-138 (cited by Rogers5). 8. Johnson WW, Cook JB: Agnathia associated with pharyngeal isthmus atresia and hydraminos . Arch Pediatr 78:211-217, 1961. 9. Potter EL: Pathology of the Fetus and Infant . Chicago, Year Book Medical Publisher Inc, 1961, pp 560-562. 10. Zeitner LD, Lindeman RC: Multiple branchial arch anomalies: Case report and temporal bone study . Arch Otolaryngol 93:562-567, 1971.Crossref 11. Hough JVD: Malformations and Anatomical Variations seen in the Middle Ear During Operations on the Stapes . Minneapolis, American Academy of Ophthalmology and Otolaryngology, 1961. 12. Lockhard RD: Variations coindident with congenital absence of the zygoma . J Anat 63:233-236, 1928-1929. 13. Sando I, Hemenway WG, Morgan WR: Histopathology of the temporal bones in mandibulo-facial dysostosis . Trans Amer Acad Ophthal and Otolaryngol 72:913-924, 1968. 14. Keen JA: A case of agnathia with a note on the development of the maxillary process . South African J Lab Clin Med 1:197-202, 1955. 15. Horstadius S: The Neural Crest . Oxford, England, Oxford University Press, 1950, pp 7, 35. 16. Altman F: The ear in severe malformations of the head . Arch Otolaryngol 66:7-25, 1957.Crossref 17. Wragg LE et al: Facial growth accomodating secondary palate closure in rat and man . Arch Oral Biol 15:705-719, 1970.Crossref 18. McKenzie J: The first arch syndrome . Arch Dis Child 33:477-486, 1958.Crossref 19. McKenzie J: The first arch syndrome and associated anomalies , in Longacre JJ (ed): Craniofacial Anomalies . Philadelphia, JB Lippincott Co, 1968, chap 29, pp 193-195. 20. Rawley PT: Familial hearing loss associated with branchial fistulas . Pediatrics 44:978-985, 1969. 21. Klein D: Genetic factors and classification of craniofacial anomalies derived from a perturbation of the first branchial arch , in Longacre JJ (ed): Craniofacial Anomalies . Philadelphia, JB Lippincott Co, 1968, chap 7, pp 31-41. 22. Gladstone RJ, Wakeley CPG: Defective development of the mandibular arch . J Anat 57:149-167, 1923. 23. Wright S, Wagner K: Types of subnormal development of the head from inbred strains of guinea pigs and their bearing on the classification and interpretation of vertebrate monsters . Am J Anat 54:383-488, 1934.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Otolaryngology American Medical Association

Aplasia of the First and Second Branchial Arches

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Publisher
American Medical Association
Copyright
Copyright © 1973 American Medical Association. All Rights Reserved.
ISSN
0003-9977
DOI
10.1001/archotol.1973.00780020130014
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Abstract

Abstract The rare lethal syndrome of microstomia, aglossia, agnathia, and synotia (otocephalus, otocephalia) is the most severe form of the so-called first arch anomalies. A baby with this combination of malformations offered an opportunity to study the pathologic morphology of structures derived from first and second arch anlage. Although the pathologic anatomy varies from case to case, the observations of several authors along with our findings posed questions regarding the embryology of the midface, cranial base, and derivatives of the first two branchial arch structures. Current concepts require critical revision in order to logically classify the myriad of deformities that are presently designated first and second arch malformations. References 1. Gorlin RJ, Pindborg JJ: Syndromes of the Head and Neck . New York, Blakiston Medical Book Division, McGraw-Hill Book Co Inc, 1964, pp 368-369. 2. Ruben A (ed): Handbook of Congenital Malformation . Philadelphia, WB Saunders Co, 1967, p 141. 3. Arey LB: Developmental Anatomy . Philadelphia, WB Saunders Co, 1965. 4. Pearson AA, et al: The Development of the Ear . Minneapolis, American Academy of Ophthalmology and Otolaryngology, 1967. 5. Rogers BO: Microtia, "lop," "cup," and protruding ears: Four directly related congenital deformities , in Longacre JJ (ed): Craniofacial Anomalies . Philadelphia, JB Lippincott Co, 1968, chap 11. 6. Wood-Jones F, I-Chuan W: The development of the external ear . J Anat 68:525-533, 1934. 7. Streeter GL: Development of the auricle in the human embryo , in Contributions to Embryology . Washington, DC, Carnegie Institute, 1922, vol 14, pp 111-138 (cited by Rogers5). 8. Johnson WW, Cook JB: Agnathia associated with pharyngeal isthmus atresia and hydraminos . Arch Pediatr 78:211-217, 1961. 9. Potter EL: Pathology of the Fetus and Infant . Chicago, Year Book Medical Publisher Inc, 1961, pp 560-562. 10. Zeitner LD, Lindeman RC: Multiple branchial arch anomalies: Case report and temporal bone study . Arch Otolaryngol 93:562-567, 1971.Crossref 11. Hough JVD: Malformations and Anatomical Variations seen in the Middle Ear During Operations on the Stapes . Minneapolis, American Academy of Ophthalmology and Otolaryngology, 1961. 12. Lockhard RD: Variations coindident with congenital absence of the zygoma . J Anat 63:233-236, 1928-1929. 13. Sando I, Hemenway WG, Morgan WR: Histopathology of the temporal bones in mandibulo-facial dysostosis . Trans Amer Acad Ophthal and Otolaryngol 72:913-924, 1968. 14. Keen JA: A case of agnathia with a note on the development of the maxillary process . South African J Lab Clin Med 1:197-202, 1955. 15. Horstadius S: The Neural Crest . Oxford, England, Oxford University Press, 1950, pp 7, 35. 16. Altman F: The ear in severe malformations of the head . Arch Otolaryngol 66:7-25, 1957.Crossref 17. Wragg LE et al: Facial growth accomodating secondary palate closure in rat and man . Arch Oral Biol 15:705-719, 1970.Crossref 18. McKenzie J: The first arch syndrome . Arch Dis Child 33:477-486, 1958.Crossref 19. McKenzie J: The first arch syndrome and associated anomalies , in Longacre JJ (ed): Craniofacial Anomalies . Philadelphia, JB Lippincott Co, 1968, chap 29, pp 193-195. 20. Rawley PT: Familial hearing loss associated with branchial fistulas . Pediatrics 44:978-985, 1969. 21. Klein D: Genetic factors and classification of craniofacial anomalies derived from a perturbation of the first branchial arch , in Longacre JJ (ed): Craniofacial Anomalies . Philadelphia, JB Lippincott Co, 1968, chap 7, pp 31-41. 22. Gladstone RJ, Wakeley CPG: Defective development of the mandibular arch . J Anat 57:149-167, 1923. 23. Wright S, Wagner K: Types of subnormal development of the head from inbred strains of guinea pigs and their bearing on the classification and interpretation of vertebrate monsters . Am J Anat 54:383-488, 1934.Crossref

Journal

Archives of Otolaryngology – American Medical Association

Published: Aug 1, 1973

References

  • Syndromes of the Head and Neck
    Gorlin RJ, Pindborg JJ
  • Handbook of Congenital Malformation
    Ruben A (ed)
  • Developmental Anatomy
    Arey LB
  • The Development of the Ear
    Pearson AA, et al
  • Craniofacial Anomalies
    Rogers BO
  • The development of the external ear
    Wood-Jones F, I-Chuan W
  • Contributions to Embryology
    Streeter GL
  • Agnathia associated with pharyngeal isthmus atresia and hydraminos
    Johnson WW, Cook JB
  • Pathology of the Fetus and Infant
    Potter EL
  • Multiple branchial arch anomalies: Case report and temporal bone study
    Zeitner LD, Lindeman RC
  • Malformations and Anatomical Variations seen in the Middle Ear During Operations on the Stapes
    Hough JVD
  • Variations coindident with congenital absence of the zygoma
    Lockhard RD
  • Histopathology of the temporal bones in mandibulo-facial dysostosis
    Sando I, Hemenway WG, Morgan WR
  • A case of agnathia with a note on the development of the maxillary process
    Keen JA
  • The Neural Crest
    Horstadius S
  • The ear in severe malformations of the head
    Altman F
  • Facial growth accomodating secondary palate closure in rat and man
    Wragg LE et al
  • The first arch syndrome
    McKenzie J
  • Craniofacial Anomalies
    McKenzie J
  • Familial hearing loss associated with branchial fistulas
    Rawley PT
  • Craniofacial Anomalies
    Klein D
  • Defective development of the mandibular arch
    Gladstone RJ, Wakeley CPG
  • Types of subnormal development of the head from inbred strains of guinea pigs and their bearing on the classification and interpretation of vertebrate monsters
    Wright S, Wagner K

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