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Year : 2018  |  Volume : 4  |  Issue : 2  |  Page : 96-99

Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report

Department of Oral Medicine & Radiology, Institute of Dental Studies and Technologies, Modinagar, Uttar Pradesh, India

Date of Web Publication28-Aug-2018

Correspondence Address:
Dr. Shalu Rai
Department of Oral Medicine & Radiology, Institute of Dental Studies and Technologies, Kadrabad, Modinagar 201201, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mamcjms.mamcjms_59_17

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Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a result of hypoplasia of facial bones, accompanied by ear, eye and nose abnormalities and positive coloboma sign. This article describes clinical and radiographic features of this syndrome in a 22 year old male who reported to our department with the complaint of pain in his left upper back and right lower back tooth region showing incomplete clinical form of Franceschetti syndrome. Also pathogenesis, diagnosis, prevention, management are discussed.

Keywords: Coloboma sign, franceschetti syndrome, treacher collins syndrome

How to cite this article:
Rai S, Tyagi K, Misra D, Khatri M, Jain P. Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report. MAMC J Med Sci 2018;4:96-9

How to cite this URL:
Rai S, Tyagi K, Misra D, Khatri M, Jain P. Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report. MAMC J Med Sci [serial online] 2018 [cited 2023 Feb 8];4:96-9. Available from: https://www.mamcjms.in/text.asp?2018/4/2/96/239998

  Introduction Top

Franceschetti syndrome, also known as mandibulofacial dysostosis,  Treacher Collins syndrome More Details, was first described by Thomson and Toynbee in 1847; however, Berry (1889) and Treacher Collins (1900) described the important features of this syndrome. Franceschetti (1949) coined the term mandibulofacial dysostosis.[1]

It has a characteristic facial appearance as a result of the hypoplasia of the facial bones, particularly the mandible and zygomatic complex. It is usually accompanied by the ear, eye, and nose abnormalities, namely malformed pinna, deafness, shortening, and the slanting down of palpebral fissure, and the positive coloboma sign and obliteration of nasofrontal angle with raised nasal bridge.[2],[3] We present a patient diagnosed with an incomplete form of Franceschetti syndrome giving emphasis on various radiological views to evaluate the radiological features of this syndrome.

  Case Report Top

A 22-year-old male reported to our department with the chief complaint of pain in his left upper back tooth region for last 6–7 months. Past dental history revealed that he has undergone orthodontic treatment earlier for mal-alligned teeth in his upper and lower jaw. Family history revealed that his father and grandmother also had same typical features. On extraoral examination, he presented an antimongoloid face with downward slanting of the palpebral fissures, sparse eyelashes on the lower eyelid, batfan ears, and mandibular micrognathism giving a “bird-like appearance” [[Figure 1]a and [Figure 1]b]. On intra-oral examination, we found grossly decayed 27, partially edentulous arch with respect to 46. The patient had high palatal vault and narrow mandibular arch [Figure 2]. After taking the patient’s consent, he was subjected for radiological evaluation. Orthopantomography, anteroposterior (AP) view, lateral cephalometric, and submentovertex and paranasal sinus (Water’s projection) views were taken.
Figure 1: (a) Front profile showing the antimongoloid slanting palpebral fissure, bat fan ear, broad nose, and depressed malar prominence. (b) Lateral profile showing the hypoplastic mandible

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Figure 2: (a and b) Intraoral picture showing the high palatal vault and narrow mandibular arch

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Orthopantomographic image shows the hypoplastic condyles, pronounced antigonial notch with deviated nasal septum on the left side, and haziness in the left maxillary sinus [[Figure 3]a]. Lateral cephalometric evaluation showed the hypoplastic mandibular body, steep occlusal plane, with narrow palatopharyngeal space as compared to others [[Figure 3]b]. AP view showed the hypoplasia of zygomatic bone [[Figure 4]a]. Submentovertex view showed depressed zygoma [[Figure 4]b]. Water’s projection again showed the hypoplasia of zygomatic bone [[Figure 4]c].
Figure 3: (a) orthopantomography (OPG) showing the deviated nasal septum with haziness in left maxillary sinus with pronounced antigonial notch and condylar hypoplasia. (b) Lateral cephalogram showing the hypoplastic mandibular body and narrow palate-pharyngeal space

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Figure 4: (a) Anteroposterior (AP) view showing the hypoplasia of zygomatic bone. (b) Submentovertex view showing the depressed zygoma. (c) Water’s view showing the hypoplasia of zygomatic bone

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On the basis of clinical presentation and radiological features, the patient was diagnosed with incomplete form of Franceschetti syndrome with differential diagnoses of Nager’s acrofacial dysostosis, X-linked maxillofacial dysostosis, and oculoauriculovertebral spectrum. The patient was referred to higher center for cone beam computed tomographic view for evaluation of other craniofacial abnormalities but was unfortunately lost to follow-up.

  Discussion Top

Franceschetti syndrome is an autosomal-dominant syndrome and has a frequency of approximately one per 70,000 live births.[4] The gene responsible for the syndrome is known as treacle or TCOF1 and has been mapped to 5q32–33 chromosome.[2],[3] It involves structures derived from the first and second pharyngeal arch, groove, and pouch. Histological studies indicate apoptosis in perfusion neural folds that play a critical role in its pathogenesis.[4] Other studies indicated that abnormalities of neural crest development occurred in these phenocopies. The chief defect could be in migration or differentiation of the ectomesenchymal cells or their death in the condensing trigeminal ganglia. However, the effects on the first and second arch placodal cells following their release from the neural folds of neural crest cells into the developing cranial regions remains uncertain.[5]

The typical clinical and radiographic characteristics of this syndrome are as follows:[6],[7],[8],[9]
  • Eyes: Antimongoloid palpebral fissures. These are short and slope laterally downward with either a notch or coloboma of outer third of the lower eyelid and absence of lashes medial to coloboma. These findings were present in our case also.
  • Face: Bilateral and usually symmetric hypoplasia of facial bones, especially the malar bones and mandible, are present. Similar findings were present in our case too. Depressed cheekbones, receding chin, tongue-shaped process of hair that extends toward the cheek, and large down-turned mouth are the other characteristic features present.
  • Ears: Malformation of the external ear and occasionally of the middle and inner ear, with low implantation of the auricle. The pinnae are often crumpled and misplaced toward the angle of the mandible. Batfan ears, deafness, microtia, and extra ear tags and blind fistulas, which may occur anywhere between the tragus and the angle of the mouth, are the other common findings. Batfan ears were found in our case.
  • Oral findings: Macrostomia, high palate, and abnormal position of the teeth are the common features and were present in our case also. Cleft palate with congenital palatopharyngeal incompetence, macrostomia, deficient elevator muscles of the upper lip, and the absence or hypoplasia of the parotid gland, the condyle, and the coronoid process are severely hypoplastic, flat, or aplastic. The undersurface of the body of the mandible is quite concave. Short condylar neck with no articular eminence and a typically medial articular area are other extra-oral findings.
  • Nose: The nose appears large due to the hypoplastic supraorbital rims and hypoplastic zygomas. Alar cartilage is hypoplastic and nares are narrow, and these findings were present in our case also. Literature reveals that there is obliteration of the naso-frontal angle also.
  • Skull: Poorly developed supraorbital ridges. Hypoplastic zygomatic process of the frontal bone. The mastoids are not pneumatized and are frequently sclerotic. The paranasal sinuses are often small and may be completely absent. The orbits are hyperteloric, and the infraorbital foramen is usually absent. The cranial base is progressively kyphotic.
  • Mental status: Intelligence is usually normal as seen in our case. However, some authors have reported mild retardation and mentally deficient patients.

Franceschetti and Klein described five clinical forms:[6]
  1. The complete form (having all known features).
  2. The incomplete form (presenting variably with less severe ear, eye, zygoma, and mandibular abnormalities).
  3. The abortive form (only the lower lid pseudocoloboma and zygoma hypoplasia are present).
  4. The unilateral form (anomalies limited to one side of face).
  5. The atypical form (combined with other abnormalities that are not usually part of typical syndrome).

Diagnostic clinical feature: Extraoral[8]

Opthalmological findings:
  1. Downward slanting of palpebral fissures.
  2. Partial absence of eyelid cilia.
  3. Positive coloboma sign.

  1. External ear abnormalities such as batfan ears.
  2. Conductive hearing loss.

  1. Very short columella.
  2. Narrow nares.
  3. Small lateral cartilages.
  4. Deviated nasal septum.

  1. Hypoplastic mandible.
  2. Anterior open bite with steep occlusal plane.
  3. Hypoplastic maxilla.
  4. Hypoplastic malar bones.

Diagnostic tests[9],[10]

  1. Radiographs and computed tomography (CT) for evaluation of craniofacial abnormality.
  2. Audiological evaluation for hearing impairment.
  3. Deoxyribo nucleic acid (DNA) diagnosis: Direct sequencing of the coding and flaking intronic region of TCOF1 defects mutation in 90–95% patients.

Prenatal diagnosis[9],[11]

  1. Prenatal ultrasound:
    1. Excessive amniotic fluid in the womb of mother.
    2. Demonstration of characteristics facies of Treacher Collins Syndrome (TCS), such as antimongoloid slope of palpebral fissures, micrognathia, abnormal appearance of nose, cleft palate, abnormal fetal swallowing.
  2. Amniocentesis:
    1. To detect TCOF1.
    2. Presence of TCOF1 mutation detected by prenatal diagnosis does not predict the specific malformation or severity of the disease.

Syndromes commonly included in the list of differential diagnosis are Nager’s acrofacial dysostosis but is different, because this condition involves the bones of other extremities. X-linked maxillofacial dysostosis is different, because there is downward-slanting palpebral fissures without colobomas, maxillary hypoplasia, open bite, and relative mandibular prognathism.[6]

  Management Top

The management of individuals affected by this syndrome requires a multidisciplinary approach involving craniofacial surgeons, orthodontists, ophthalmologists, otolaryngologists, and speech pathologists.[8] Depending on the clinical manifestations and severity, the management is planned.

The possibility of transmitting the defect by the affected parent to the offspring is 50%; therefore, genetic counseling plays an important role in such patients.[11]

  Conclusion Top

Individuals with severe form of Treacher Collin syndrome usually over a period of time undergo multiple major reconstructive surgeries that are rarely fully corrective. The stem cell therapy is unlikely to benefit the reconstructive repair of severe craniofacial malformations. Consequently, more research should be directed toward the preventive aspects of this syndrome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Dixon MJ. Treacher Collins syndrome. J Med Gene 1995;32:806-8.  Back to cited text no. 1
Children’s Craniofacial Association. Available from: http://www.ccakids.com/syndromes/treacherscollins.pdf. [Last accessed on 2017 Jul 31].  Back to cited text no. 2
Mckenzie J, Craige J. Mandibulofacial dysostosis (Treacher Collins syndrome). Arch Dis Child 1955;30:391-5.  Back to cited text no. 3
Trainor P, Dixon J, Dixon M. Treacher Collins syndrome: Etiology, pathogenesis and prevention. Eur J Hum Genet 2009;17:275-83.  Back to cited text no. 4
Valdez B, Henning D, So R, Dixon J, Dixon M. Treacher Collins syndrome (TCOFI) gene product is involved in ribosomal DNA gene transcription by interacting with up steam binding factor. Proc Natl Acad Sci U S A 2004;101:10709-14.  Back to cited text no. 5
Hertle R, Ziylan S, Katowitz J. Ophthalmic features and visual prognosis in Treacher Collins syndrome. Br J Ophthalmol 1993;77:642-5.  Back to cited text no. 6
Farrar JE. Mandibulo-facial dysostosis − A familial study. Br J Ophthalmol 1967;51:132-5.  Back to cited text no. 7
Marszatek B, Wojcicki P, Kobus K, Trzeciak WH. Clinical features treatment and genetic background of Treacher Collins syndrome. J Appl Genet 2002;43:223-33.  Back to cited text no. 8
Chen H. Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Humana Press 2006. p. 967-71.  Back to cited text no. 9
Chemke J, Mogilner B, Ben-Itzhak I, Zurkowski L, Ophir D. Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet 1988;25:230-2.  Back to cited text no. 10
Mittman D, Rodman O. Mandibulofacial dysostosis (Treacher Collins syndrome): A case report. J Natl Med Assoc 1992;84:1051-4.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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