|Year : 2017 | Volume
| Issue : 2 | Page : 149-152
Berry syndrome: A case report and review of literature
Mayuri P Suryavanshi, Sonia J Sodhi, Lata M Kale, Swati J Rathod, Vishwas D Kadam
Department of Oral Medicine and Radiology, Chhatrapati Shahu Maharaj Shikshan Sanstha Dental College and Hospital, Aurangabad, Maharashtra, India
|Date of Submission||28-Jul-2016|
|Date of Acceptance||21-Jun-2017|
|Date of Web Publication||9-Nov-2017|
Mayuri P Suryavanshi
Department of Oral Medicine and Radiology, Chhatrapati Shahu Maharaj Shikshan Sanstha Dental College and Hospital, Aurangabad, Maharashtra
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Berry syndrome or Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with variable expressivity. The most common manifestations of TCS are the antimongoloid slanting of the palpebral fissures, colobomas of the lower eyelids, hypoplasia of zygoma and mandible, and various ear abnormalities. This article explains the clinical and radiographic features of TCS in a 14-year-old male, who had reported to the Department of Oral Medicine and Radiology, and reports the mild expressivity which can be seen in TCS. It also signifies that other abnormalities such as tongue tie and congenitally missing mandibular anteriors may be seen in this syndrome.
Keywords: Antimongoloid slanting, Berry syndrome, Tongue tie, Treacher Collins syndrome
|How to cite this article:|
Suryavanshi MP, Sodhi SJ, Kale LM, Rathod SJ, Kadam VD. Berry syndrome: A case report and review of literature. J Indian Acad Oral Med Radiol 2017;29:149-52
|How to cite this URL:|
Suryavanshi MP, Sodhi SJ, Kale LM, Rathod SJ, Kadam VD. Berry syndrome: A case report and review of literature. J Indian Acad Oral Med Radiol [serial online] 2017 [cited 2020 Aug 14];29:149-52. Available from: http://www.jiaomr.in/text.asp?2017/29/2/149/217920
| Introduction|| |
Treacher Collins syndrome (TCS) or Franceschetti–Zwahlen–Klein syndrome or Treacher Collins Franceschetti syndrome involves structures derived from the first and second pharyngeal arch, groove, and pouch. The incidence is 1 in 500,000 live births. Although first reported by Thomson in 1847, credit is given to a British Ophthalmologist named Edward Treacher Collins for reporting two cases in 1900. History shows evidence of earlier descriptions by Berry (1889), so sometimes it is also called Berry syndrome., In 1949, Franschetti et al. published case reports enumerating the findings and named it as mandibulofascial dysostosis. Although 40% cases have familial history, 60% result from de novo mutations (Jones et al. 1975). A very rare case of TCS associated with other abnormal anomalies is discussed here. Moreover, this case is unique as it shows mild expressivity of the syndrome, which is a rare finding and a very commonly overlooked diagnosis.
| Case Report|| |
A father with his 14-year-old son visited the Department of Oral Medicine and Radiology, as there was a complaint of missing lower anterior incisors since birth. There was no significant family history of the same signs and symptoms. On extraoral examination, he presented with sparse eyelashes with antimongoloid slanting of palpebral fissures. Depressed malar prominence suggesting hypoplasia was also seen. Bridge of the nose appeared large and prominent with respect to middle third part of face [Figure 1]a. Facial profile suggested hypoplasia of mandible, which gave maxilla a prognathic appearance, giving overall bird face appearance to the face [Figure 1]b,[Figure 1]c,[Figure 1]d. Also, on lateral cephalogram underdeveloped mandible is seen [Figure 1]d. There was underdeveloped pinna and absence of external acoustic meatus on the right side [Figure 1]b and little development of pinna were seen on the left side [Figure 1]c. After examination from the audiology department, it was confirmed that patient had no hearing malfunction. Ear lobules were present bilaterally. Intraorally, there was a high-arched palate, mandibular anteriors were absent which was confirmed radiographically, and hypoplastic mandibular anterior alveolar ridge was noted due to congenitally missing anteriors [Figure 2]a and [Figure 2]b, open bite, lips incompetence, tongue tie [Figure 2]a due to which patient experienced speech problems were also present. On posteroanterior (PA) view of the skull [Figure 2]c, malar (zygoma) hypoplasia was noted, which suggested underdevelopment of maxilla. Furthermore, while obtaining digital PA view of the skull, difficulty was encountered as ear pinna on both the sides were situated below the usual location. No other abnormalities, such as webbed hands and feet and clefting of hard and soft palate, was noted. Based on the clinical and radiological findings, a provisional disgnosis of TCS was considered. With this, the differential diagnosis of Nager acrofacial dysostosis, Miller acrofacial dysostosis, and oculoauriculovertebral spectrum defect (hemifacial microsomia and Goldenhar syndrome) were also taken into consideration.
|Figure 1: (a) Frontal view showing antimongoloid slant of palpebral features, sparse eyelashes, prominent bridge of the nose, hypoplasia of malar bone. (b) Underdeveloped pinna on right side and absence of external acoustic meatus. (c) Underdevelopment of pinna on left side. (d) Lateral cephalogram showing underdeveloped mandible|
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|Figure 2: (a) Intraoral view showing missing lower anteriors and tongue tie. (b) Congenitally missing mandibular anteriors on OPG. (c) PA view of the skull showing underdeveloped maxilla and zygoma|
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| Discussion|| |
TCS is a complex disease with a characteristic pattern of craniofacial malformation, which is distinct from other first and second branchial arch anomalies. According to a classification of craniofacial clefts, the complete form of the syndrome shows the presence of clefts 6, 7, and 8 (Tessier 1976). Moreover, it is mostly a bilateral entity. Zygoma failing to fuse with maxilla, frontal, and temporal bones is the main cause of its clinical appearance., Franschetti and Klein in 1949 reviewed the typical characteristics of the syndrome:
- Antimongoloid palpebral fissures with either a notch or coloboma of the outer third of the lower lid, and occasional absence or paucity of the lashes of the lower lid
- Hypoplasia of the facial bones, especially the malar bones and mandible
- Malformation of the external ear, and occasionally of the middle and inner ear, with low implantation of the auricle
- Macrostomia, high palate, malocclusion, and abnormal position of the teeth
- Atypical hair growth in the form of tongue-shaped processes of the hair-line extending towards the cheeks in the pre-auricular region
- Association at times with other anomalies, such as obliteration of the nasofrontal angle, pits, or clefts between the mouth and ear, and skeletal deformities.
Axelsson et al. in 1963 described the obligatory features as it was found that the above features were not considered to be of the same importance and that the following features were mandatory:
- Antimongoloid palpebral fissures
- Anomaly of the lower eyelid, coloboma of the outer third, or deficient lashes or both
- Hypoplasia of malar bones
- Hypoplasia of mandible.
Mandatory features (according to Axelson et al.) such as antimongoloid palpebral fissures, hypoplasia of malar bones, and hypoplasia of mandible with deficient eyelashes are seen in the present case. Mittman additionally proposed features of scarring and alopecia and acne keloidalis nuchae found in patients of Treacher Collins.
The possibility of the syndrome to occur is by two ways – is either inherited from the affected parent or develops as a new mutation in the specific gene. It has autosomal dominant inheritance with variable penetrance and expressivity. It is caused by mutation of the TCOF1 gene, which exhibits linkage to human chromosome 5q31.3-q33.3 locus.TCOF1 gene encodes a nuclear phosphoprotein rich in serine and alanine “Treacle” that may serve as a link between rRNA gene transcription and pre-rRNA processing. It is known to involve in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF). This protein serves as an active factor in development of bones and other tissues on the face during embryonic stage. When mutations occur in the TCOF1 gene, it reduces the amount of treacle that is produced in cells and develops a disorder which leads to abnormal craniofacial development. Recently, Dauwerse et al. detected mutations in genes encoding subunits of RNA polymerases I and III in Treacher Collins patients.
Many hypothesis were proposed to describe the pathogenesis of the syndrome including abnormal patterns of cranial neural crest cells migration, proliferation, formation, abnormal domains of cell death, improper cellular differentiation during development, or an abnormality of the extracellular matrix., Mann and Kilner proposed the etiology to be an inhibition of the development occurring towards the end of the seventh week of embryonic life affecting the facial bones deriving from the first visceral arch. McKenzie suggested that the defect of stapedial artery causes maldevelopment in its own field as well as in the region of first visceral arch. Valdez et al. suggested that the cause of abnormal development of craniofacial complex is the haploid insufficiency of the treacle, resulting in insufficient production of r RNA in the perfusion neural folds.
Franschetti and Klein have identified five clinical forms of the syndrome based on the expressivity of clinical features:
- A complete form (having all known features)
- An incomplete form (presenting with less severe ear, eye, zygoma, and mandibular abnormalities)
- The abortive form (only the lower lid pseudocoloboma and zygoma hypoplasia are present)
- The unilateral form (anomalies present on only one side)
- An atypical form (combined with other abnormalities not usually part of this syndrome).
Hence, according to Franschetti and Klein classification, the present case is an incomplete form of TCS as it presents mild or less severe ear, eye, zygoma, and mandibular abnormalities. Moreover, there is congenital absence of mandibular anterior teeth, which is not usually seen with this syndrome, and hence, it can be said that it is an atypical form of the syndrome.
For the diagnosis of the syndrome, prenatal diagnostic aids will play an important role when termination of the pregnancy is the option if the child is affected. Molecular analysis such as DNA diagnosis for detection of mutation is used for confirmation of the syndrome in the first trimester; however, still this method does not show how severely the fetus is affected. Ultrasonography can be used to evaluate fetal progression. Other diagnostic aids such as fetoscopy and amniocentesis can also be done. Radiographs such as orthopantomograph and lateral cephalogram, PA skull, and CT are done to evaluate craniofacial abnormality in later stages. Hearing evaluation with audiological aids can help identify hearing defects in cases when normal ear anatomy is present.
As Nager acrofacial dysostosis, Miller acrofacial dysostosis, and oculoauriculovertebral spectrum defect (hemifacial microsomia and Goldenhar syndrome) mimic the features of TCS, they can be considered in the differential diagnosis of the syndrome. Nager syndrome has all the features of TCS, with distinguishing features such as hypoplastic or aplastic thumb, radial hypoplasia, and radioulnar synostosis. Miller syndrome also has additional features of ectropian or out turning of the lower eye lid. Furthermore, cleft lip with or without cleft palate are more common in this syndrome than in TCS. Nagers syndrome includes preaxial limb defects and Miller syndrome includes postaxial limb defects. Hemifacial microsomia include the developmental defects primarily in mouth, ear and mandible unilaterally whereas Goldenhar syndrome includes vertebral abnormalities, epibulbar dermoids, and facial deformities. As this case did not show any abnormalities other than mentioned earlier, other syndromes were excluded from diagnosis.
Multidisciplinary approach is required to treat the patient with TCS. This includes the participation of genetist, pediatric otolaryngologist, audiologist, plastic surgeon, psychologist, and dental surgeons. Severe cases need many surgeries when diagnosed in early stages.
| Conclusion|| |
As our patient showed no familial predominance of the features in other family members, this case is known to have new mutation in the gene. Audiological evaluation was advised, although clinically hearing ability was not affected. Fabrication of prosthesis for permanent absence of mandibular anteriors was advised. Psychological support was offered to patient. Genetic counselling was administered to the patient and family members.
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.
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Conflicts of interest
There are no conflicts of interest.
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