Congenital atelia ( = incomplete development) of maxilla and mandibula have been named Treacher-Collins' syndrome, Berry's syndrome, Franceschetti's syndrome, Dysostosis mandibulofacialis, the first branchial arch syndrome, the first and second branchial arch syndrome, etc^. We experienced two cases of ateloprosopia accompanied by hearing loss, the details of which are reported below together with studies of the literatures mainly referring to development of ears.論文http://purl.org/coar/resource_type/c_650

Arakaki, Yoshitaka

Genka, Tomohiro

Kiyuna, Chikako

Koja, Masahiro

Matayshi, Shigemitsu

Noda, Yutaka

Noha, Seikichi

English

University of the Ryukyus Repository

琉球大学学術リポジトリ[原著]Two cases of Dysostosis Mandibulo-Facialis言語: English出版者: 琉球大学保健学部公開日: 2014-07-18キーワード (Ja): キーワード (En): 作成者: Arakaki, Yoshitaka, Koja, Masahiro, Matayshi,Shigemitsu, Genka, Tomohiro, Noha, Seikichi, Kiyuna,Chikako, Noda, Yutakaメールアドレス: 所属: メタデータhttp://hdl.handle.net/20.500.12000/0002016358URLlift Ryukyu Univ. J. Health Sci. Med. 2(2主110-114, 1979Two cases of Dysostosis Mandibulo-FacialisYoshitaka ARAKAKI, Masahiro KOJA, Shigemitsu MATAYOSHI,Tomohiro GENKA, Seikichi NOHA, Chikako KIYUNA and Yutaka NODADepartment of Otorhinolaryngology, College of Health Sciences, University of the RyukyusCongenital atelia ( = incomplete development) of maxilla and mandibula have been namedTreacher-Collins'syndrome, Berry's syndrome, Franceschetti's syndrome, Dysostosis mandibulo-facialis, the first branchial arch syndrome, the first and second branchial arch syndrome, etcl). Weexperienced two cases of ateloprosopia accompanied by hearing loss, the details of which are reportedbelow together with studies of the literatures mainly referring to development of ears.CASE I: 5 year-old femaleChief complaints: Bilateral hearing loss and lalopathyPast his細γ　No anomalous development was seen at birth and after birth except facial region.History of present illness: Unabled to speak until about 3 years old, probably due to hearing loss.Afterwards she began to talk, only simple matters, though she seemed to have good memory. Noother specifities in general.Family history: Parents, a sibling, all alive well. No consanguineous marriage. Hereditary diseasesand hearing loss are not seen.Clinical findings: Physically small but nutrition favorable. Neck, thoracoabdominal region andextremities were normal. Facial expression is specific, bilaterally palpebral fissures turned downoutwards, being so-called antimongoloid (Fig. 1). Poor development of mandibula was seen. Bothauricles are nearly normal positioned symmetrically, but morphologically anomalous and somewhatlarger in general showing no auricular fold like auricular concha, scaphoid fossa, etc. (Fig. 2 and 3).Otoclesis was observed on both ears, only showing dents of 3 mm at right and 5 mm at left respec-tively. No other abnormalities with oral cavity, denture and pharynx.Laboratory examinations: General blood test, urinal test, etc., indicated normal. Syphilitic reactionwas negative , no abnormal finding with electro-encephalogram.Audiomeかy: Bone conduction normal on both sides, air conduction bilaterally 50 - 60 dB onthe average , showing bilateral conductive hearing loss.Surgical findings :Exploratory tympanotomy at left: External audiory meatus existed with cerumen. Somethinglike tympanic membrane existed, and upon removing same entered into small cavity corresponding totympanic cavity. Auditory ossicles not existed at all, oval window as well as round window not clear,tubal closing either.Two Cases of Dysostosis Mandibulo-FaciahsFig. 1. The faceofCase 1.Exploratory tympanotomy at right: Enteredfrom back of the ear. External auditory meatusobscure, only recognized osseous elevation atcorresponding part. Zygomatic process looked likeonly two elevations having no contact with malarbone. Those corresponding to tympanic cavity andauditory ossicles not clear at all.Post-operative hearing: Nearly the same level asbefore.　Upon formation of external auditorymeatus, hearing aid was mounted.CASE II: 14 year-old maleChief complaint: Hearing loss of the right earPast history : Nothing special abnormal with growthwas seen at birth and after birth.History of present illness: Up to 4 - 5 years old theboy was healthy with no abnormality noticed.Fig. 2. The right ear of Case 1.Fig. 3. The left ear of Case 1.111About 5 years old, his hearing loss was noted aftertonsillectomy and adenotomy.Family history : Neither consanguineous marriage nor hearing loss observed.clinical findings: Physically built well and nutrition is favorable. Thoraco-abdominal region andextremities are normal. Facial expression: Bilateral palpebral fissures turned down outwards(antimongoloid). Maxilla developed comparatively well. Both auricles were normal in shape andposition, with external auditory meatus. The tympanic membranes were present but strongly cloudy.There was hearing loss about 30 - 40 dB with left air conduction and about 50 dB with right,112 Yohitaka ARAKAKI et al.bilateral bone conduction were within normal limit showing conductive hearing loss. X-rayexamination on ears revealed incomplete development of mastoid antrum, mastoidal cells andtympanic cavity at left.DISCUSSIONReferring to development of face2'3', the skull develops first at an early embryonal stage andface develops apparently in the fetal stage. During the 3rd and 4th weeks of gestation primordium ofears and eyes, and in the 7th week of gestation middle and external nasal processes are fused withmaxillary process originated from the lst branchial arch to make the upper layer, thus nasal cavity isseparated from the oral cavity. Eyes move from exterior to interior and gradually fixed at the normalpositions. Auricles are formed around hyomandibular cleft and positioned low, and face structure isnearly completed by the 8th week, i.e., development of the face starts from about the 4th week andalmost completed in the 8th week.Referring to formal genesis of ears2)3) , genesis of inner ear differs from either middle or externalears. Inner ear is ectodermal, and differentiates from about the 3rd week of gestation. Membraneouslabyrinth of cochlea and vestibule is completed in about the 8th week. Meanwh止e, bony labyrinth isformed from mesodermal tissue around the otocyst. As to middle ear, starting from the 5th weekmesodermal tissue proliferates between the first branchial cyst and the lst branchial cleft, and theblind of the lst branchial cyst expands to make tympanic cavity, while the interior becomes tubaauditiva. Mesodermal tissue around the tympanic cavity becomes mucous tissue, in which auditoryossicles are made. When primordium of auditory ossicle is cartilaginified, still the cartilage is in acontinuous state. After some time auditory ossicles are said to lose their bonds and articles aredeveloped therein. Among auditory ossicles bodies of malleus and incus are made from Meckel scartilage of the lst branchial arch in about the 6th week and completed by the 6th month. Cmslongum of incus and stapes develop from Reichert's cartilage of the 2nd branchial arch at the end ofthe 4th week, which is completed in the 6th month. Tympanic membranes are made from mesoblas-tic band between external auditory meatus and tympanic cavity yielded on branchial cleft becomingthinner. Starting from about the 2nd month the lower part of the lst branchial cleft sinks to be theprimary external auditory meatus, and phorocyte on the bottom of which proliferates arriving attympanic membrane, thus in the 7th month on this epithelial plate a cavity is made, which becomesthe secondary external auditory meatus getting through the above primary external auditory meatus.At the end of the lst month on the margin of the lst and 2nd branchial arches surroundingthe lstbrancial cleft, 3 each, totalling 6 processes are made, which are differentiated and fused to auricles.The first report available on Dysostosis mandibulo-facialis is said to be the one studied by Berry ontwo cases of mother and child. After Collins made a report designating Treacher-Collins syndrome,the name has so far been widely know and used. Furthermore, Franceschetti and Zwahlen called thisdisease as Dysostosis madibulo-facialis and reported in deta且about manifestations4^. According totheir report, the major symptoms are as follows:1 ) Turning down of palpebral fissures outwards (anti-mongoloid) accompanied by coloboma at lowerpart of the upper eyelid on looking downward.2) Insufficient development of malar bone and madibula.3) Macrostomia, hypsistaphylia, odontoparallaxis and malocclusion.Two Cases of Dysostosis Mandibulo-Facialis 1134) Deformation of external-, middle - and internal ears.5) Blind-end fistulation between angle of the mouth and external ear.6) Lingulate hair lines on cheeks.7) Occasionally facial fissure, skeletal malformation and so on.There is no established theory concerning the origin of the disease5*. As stated about developmentof face before, a face at this time (embryonal stage, 2 month) is characteristic that compared withmandibula the upper half of the face is abnormally large. That is, eyes are wide open, mouth isextremely wide and auricles are positioned very low. When the growth is inhibited at this stage(embryonal stage, 2 month), micrognathia, macrostomia, abnormal positioning of auricles, and ab-normalities on eyes as shown in Dysostosis mandibulo-facialis occur. An explanation is made in viewof heredity6'as one of the reasons, since heredity of this disease is seen in many cases as single onset,but when several cases are seen in one fam且y tree, either of them appears in successive generations,and there is no case of consanguineous marriage, thus it is said to be probably an autosomal dominantheredity in view of the family tree.In addition to the characteristic face, Case 1. identifies the presence of bilateral otocleisis and byexploratory incision on both ears defect of audityory ossicles has been identified. Referring toauditory ossicles morphological abnormalities, defects, etc., are reported7'. The most popular one ismalformation related to incus followed by malformation of stapes. The total defect of auditoryossicles as reported in this paper was also known in the reports of Suzuki and Sakurai2'7*Referring to Case 2. anti-mongoloid eyes, ateliosis of mandibula, etc., suggest a form of Dysostosismandibulo-facialis. No marked change is observed on external ears, external auditory meatus andtympanic membranes, however, hearing indicates a typical conductive hearing loss, which would bedue to fusion and defect of auditory ossicles. It is earnestly hoped that efforts on detailed examina-tions by tympanotomy as well as improvement of hearing should further be extended.C ONCLUSIONTwo cases of Dysostosis tnandibulo-facialis with bilateral palpebral fissures turned down outwardsas well as mandibular ateliosis were studied and reported together with some referential considera-tions.In Case 1 otocleisis and total defect of auditory ossicles were observed, while in Case 2 malforma-tion of auditory ossicles was considered from the image of hearing although no tynpanotomy wasperformed yet.Development of face , mainly related to ears, were studied bibliographically.The summary of this paper was reported at the 170th Regular Meeting of the Nhon UniversityMedical Association and the 7th Regular Meeting of Okinawa Branch, the Oto-R姐10-LaryngologicalSociety of Japan.RE FERENCES1) Yano, S., Funasaka, S., Nozue, M., Baba, M.: Atypical Treacher Collins Syndrome - a casehe Yoshitaka ARAKI et al.report -. Otolaryngology (Tokyo) 47, 549 - 554, 1975.2) Suzuki, Y., Hayasaka, H., Hujii, Y., Kanzaki, J.: Dysostosis mandibulo-facialis. J. OtolaryngJapan 68, 1592 - 1604, 1965.3) L. B. Arey: Developmental anatomy - A textbook and laboratory manual of embryology -.P. 541 - 550, W. B. Saunders, Pk血delphia and London, 1965.4) Baba, K., Niimi, S., Shidara, T.: Treacher-Collins syndrome with malformation of the ear ossicles.Otolaryngology (Tokyo) 45, 947 - 952, 1973.5) Hashimoto, Y., Sakashita, K., Okuyama, H., Aino, T. Shimada, S.: A study on 4 cases of Dysosto-sis mandibulo-facialis arised from a family. J. Otolaryng. Japan 69, 1485 - 1496, 1966.6) H止oto, I., H止ano, M., Yoshida, Y.: Familial TreacheトCollins syndrome. - report offour cases -.J. Otolaryng. Japan 68, 788 - 798, 1965.7) Arai, S., Kawashiro, N. Kima, I.,: Dysostosis mandibulofacialis - a case report -. Otolaryngology(Tokyo) 43, 951 - 958, 1970.

[原著]Two cases of Dysostosis Mandibulo-Facialis

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[原著]Two cases of Dysostosis Mandibulo-Facialis

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