Collins Syndrome Research Articles

Congenital Anomalies Associated with microtia – Anotia: Review of 30 Cases

Background: Microtia-anotia has a global prevalence of 2.6 per 10,000 live births. Children with microtia-anotia will have an associated anomaly or an identifiable syndrome pattern in 20–60% of cases.1 The most common anomalies are facial cleft, facial asymmetry, renal abnormalities, cardiac defects, microphthalmia, polydactyly, and vertebral anomalies.
 Methods: This series consists of retrospective study of 30 patients who presented to the department of ENT, KEM Hospital between January 2010 to June 2013. Case Records of patients with congenital external ear deformity who presented to the E.N.T. Department during the time period from January 2010 to June 2013 were reviewed for the grade of microtia. The patients were also evaluated for associated congenital anomalies.
 Results: Associated anomalies in patients included facial paralysis, unilateral renal agenesis, congenital heart diseases, Cleft palate, microphthalmia, microcornea, iris coloboma, hemivertebra. Also Goldenhar syndrome / Hemifacial microsomia, Treacher- Collin syndrome and Pierre- Robin syndrome were the related syndromes to congenital external ear deformity in our series.
 Conclusion: Congenital external deformities may be associated with spectrum of other anomalies and the patient should receive best coordinated care from otolaryngologists, audiologists, paediatricians, heart specialist to improve the quality of life. Early hearing assessment should be followed by proper rehabilitation for adequate speech and language development.
 Bangladesh J Otorhinolaryngol; October 2016; 22(2): 78-83

Goldenhar syndrome: rare case reported from secondary health care facility in Himachal Pradesh

Dr. Maurice Goldenhar, a renowned Swiss ophthalmologist classified the clinical features and named the malformation complex as Goldenhar Syndrome and described it as a congenital defect characterized by constellation of malformations classically involving the face, eyes and ears. Principal deformities of the Goldenhar syndrome are often combined with various malformations, like Cleft lip and/or palate, tongue cleft, unilateral tongue hypoplasia, and parotid gland aplasia, Rib anomalies, Congenital heart disease (ventricular septal defects). A 12-year-old female patient diagnosed with Goldenhar syndrome at secondary care Regional Hospital Bilaspur, Himachal Pradesh. She was diagnosed with a case of Goldenhar syndrome on clinic-radiological investigations. The patient reported to ophthalmology OPD of the hospital with the chief complaint of soft tissue structure in left eye with decreased vision. On examination limbal dermoid was observed. Patient was having pre-auricular tissue tag on both sides, hemifacial micrognathia and microstomia. Correlating the history and physical findings a provisional diagnosis of Goldenhar Syndrome was made with differential diagnosis of Franschetti syndrome or Treacher – Collins syndrome, Nager syndrome or acro-facial dysostosis and Townes-Brocks syndrome. Based on the clinical and radiographic findings a diagnosis of Goldenhar syndrome was made. Severe cases of GS can affect the routine and social life of the patient. Early detection can help avoid complications at a later stage of life. Such patients will have an increased risk for psychosocial difficulties. The study of this condition is still controversial because the symptoms and the physical features may vary greatly in range and severity from case to case.

Juvenile paradental cysts in children after mandible distraction: case-control study and clinical cases presentation

Seventy-five children aged 6-17 years (mean age 9.8±4.1 years) that received mandible distraction (MD) at the age of 0-17 years (mean age at MD 6.1±4.3) were included in the study. Indication for MD were hemifacial microsomia (n=41), Goldenhar syndrome (n=4), Robin sequence (n=10), Treacher, Collins syndrome (n=7) or acquired mandible underdevelopment (n=13). Control groups consisted of 22 children aged 5-14 years (mean age 7.0±3.7 years) with mandible underdevelopment of similar origin (hemifacial microsomia (n=15), Goldenhar syndrome (n=2), Robin sequence (n=4), Treacher, Collins syndrome (n=1)) with no history of MD and 80 healthy children aged 6-10 years (mean age 7.1±2.2 years). Case-control study results proved MD to be the risk factor for juvenile paradental cysts (JPCs) with the risk more prominent in early MD cases. JPCs often do not manifest clinically and may resolve spontaneously but in refractory cases lesion curettage without endodontic treatment is an adequate approach, as JPCs are usually not associated with pulp necrosis.

Anaesthetic management of a case of Treacher - Collins syndrome

Treacher-Collins syndrome (TCS) is a rare congenital disease known to be associated with a difficult airway and represents some of the most hazardous and difficult challenges that anaesthetists may encounter during their entire practice of anesthesia. Successful anaesthetic management of a case with Treacher-Collins syndrome posted for laparoscopic cholecystectomy under general anaesthesia is presented in this report. DOI: http://dx.doi.org/10.3329/jbsa.v23i2.18178 Journal of BSA, 2009; 23(2): 72-75

Treacher Collins syndrome

Treacher Collin's syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance

We describe a novel autosomal recessive malformation syndrome in four related individuals from a geographically isolated Native Alaskan community, who have facial defects similar to those of individuals with Treacher Collins (TCS) and Miller syndrome. Distinctive findings include malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect is normal and profound mixed hearing loss has been observed in affected adults. Variable extracranial findings include atrioseptal defect, renal dysplasia, and imperforate anus, however, no limb defects have been observed. Cranial imaging studies demonstrate relative prominence of the zygoma, inferior orbital maxillary hypoplasia, and lateral orbital wall defects with an accessory superior bony projection off the zygoma lateral to the orbital rim. We propose that these individuals have inherited a novel autosomal recessive condition we have termed oculo-oto-facial dysplasia (OOFD) with unique radiographic findings.

Communication and swallowing disorders associated with congenital syndromes

This special issue is devoted to communication and swallowing disorders associated with congenital syndromes and conditions in childhood. White (2006) begins by introducing basic genetic terminology and conceptsanddescribeshowtheworldsofgenetics and speech pathology intersect. The paper makes reference to common disorders with specific feeding and/ or communication phenotypes, as well as rarer single gene disorders, and highlights the important contribution speech pathology clinicians and researchers make in recognising these phenotypes and thereby assisting in the diagnostic process. In a series of subsequent papers international experts describe the feeding and communication phenotypes commonly associated with congenital Nemaline Myopathy, 22q11.2 Microdeletion Syndrome, Angelman Syndrome, Treacher Collins and Nager syndromes and Beckwith Wiedemann Syndrome. Together these papers contain a wealth of information and demonstrate the value of carefully documented series of cases often collected as part of routine clinical care. These papers will provide the paediatric clinician with significantly more detailed information on the feeding, speech and language profiles of children with these genetic syndromes and conditions than can be found in most standard genetic textbooks. Why is it important for speech pathologists to recognise and be familiar with the clinical and behavioural phenotypes associated with specific congenital conditions and syndromes? There are a number of reasons: . Speech pathologists often see children very early in life particularly if there are early feeding problems and may be in a unique position to recognise a constellation of features or characteristics in an infant and bring this to the attention of other health professionals. . Speech, language and feeding characteristics are an important part of the outward or physical manifestation of a range of congenital conditions and syndromes. Just as other observable structures, function or behaviours that form the phenotype of a condition are documented so should speech, language and feeding characteristics be carefully documented and described. . Phenotypic variation may also occur in some syndromes. This means that even when individuals have the same genetic make up, they can have a different phenotype or make-up. It is possible that some phenotypes might have different constellations of features, increased or decreased severity of symptoms and therefore be associated with different prognoses and health outcomes. This knowledge is invaluable and can be used to inform the feeding and communication management plans for infants and young children.

Mandibular Lengthening in Micrognathic Infants With the Internal Distraction Device

Mandibular distraction osteogenesis can play an important role in the management of upper airway obstruction in infants with Pierre Robin sequence. These infants are characterizedbymicrognathia,glossoptosis,andupperairwayobstruction. 1-3 Asmall jawwitharelativelylargetongueresultsinretropositioningofthetonguebaseagainst theposteriorpharyngealwall. 4 Mandibularlengtheningthroughdistractionosteogenesisrelievesupper airway obstruction by moving the tongue base anteriorly with its muscular attachments to the mandible. 4 Distraction osteogenesis provides an alternative to tracheotomy in managing upper airway obstruction and allows earlier decannulation in infants with Pierre Robin sequence who previously have undergone tracheotomy. Pierre Robin sequence is often associated with Stickler and velocardiofacialsyndromes.Thus,pediatricophthalmologic,pediatriccardiologic,andgeneticevaluations are imperative in addition to cleft palate management. 5 We use distraction osteogenesis techniques in the management of mandibular, maxillary, cranial vault, and cranioorbital bony deficiencies. We use internal microdistractors in the management of mandibular deficiencies in neonates and infants with nonsyndromic Pierre Robin sequence, as well as in syndromes with mandibulofacial dysostosis such as Nager, Treacher Collins, and Goldenhar syndromes.

The airway in patients with craniofacial abnormalities.

Airway management for patients with craniofacial disorders poses many challenges. The anaesthesiologist must be familiar with the normal bony and soft-tissue anatomy in the airway and how anatomy is altered by various congenital disorders. Specific areas to assess include the oral cavity, anterior mandibular space, maxilla, temporomandibular joint and vertebral column. Congenital conditions that may alter normal anatomy and therefore anaesthetic management include cleft lip and palate with or without Pierre Robin syndrome, craniofacial dysostosis, mandibulofacial dysostosis/Treacher Collins syndrome, hemifacial microsomia, Klippel-Feil syndrome, Beckwith-Wiedemann syndrome, trisomy 21/Down's syndrome, Freeman-Sheldon/whistling face syndrome/craniocarpotarsal dysplasia, fibrodysplasia ossificans progressiva, mucopolysaccharidosis and vascular malformations.

Long-Term Outcome Study of Bilateral Mandibular Distraction: A Comparison of Treacher Collins and Nager Syndromes to Other Types of Micrognathia by Eric J. Stelnicki, M.D. Wen-Yuan Lin, D.D.S. Catherine Lee, D.D.S. Barry H. Grayson, D.D.S. Joseph G. McCarthy, M.D.

Long-Term Outcome Study of Bilateral Mandibular Distraction: A Comparison of Treacher Collins and Nager Syndromes to Other Types of Micrognathia by Eric J. Stelnicki, M.D. Wen-Yuan Lin, D.D.S. Catherine Lee, D.D.S. Barry H. Grayson, D.D.S. Joseph G. McCarthy, M.D.

Anaesthesia for insertion of bone‐anchored hearing aids in children: a 7‐year audit

Forty-three children, aged 23 months to 14 years, received 102 anaesthetics for insertion of bone-anchored hearing aids, each lasting approximately 30-60 min. Forty of the children had a recognised syndrome involving the head and neck, including Goldenhar's and Treacher Collin's syndrome. The incidence of congenital heart disease was 19%. Pre-existing conditions, anaesthetic technique, grade of intubation, complications and discharge were audited. Sixteen of the patients were classified as Grade 3 or 4 intubations. Over the 7 years, laryngeal mask airway usage increased for airway maintenance rather than tracheal intubation, as did the use of propofol for induction rather than inhalational methods. Intra-operative complications (5.9%) were related to the airway, and postoperative ones (17.6%) mainly to nausea and vomiting. Surgery was performed as a day case in 71% of the patients despite some long-distance travel.

Fetal hydrocephalus and ear anomalies associated with maternal use of isotretinoin

Collins syndrome and may have resulted f rom defective migra t ion of neural crest cells f rom the first and second branchia l arches?. 2 Including this case, there are now 16 women retrospectively identified as having taken isotretinoin dur ing pregnancy. 3,4 Outcomes from these pregnancies include six spontaneous abortions, one normal infant , and nine infants with malformat ions . Of 18 women identified dur ing pregnancy who did not in ter rupt the pregnancy, the outcomes have included 13 spontaneous abort ions, four normal children, and one abnormal child. Therefore, in 15 pregnancies t ha t have come to term, five chi ldren were normal at b i r th and 10 were abnormal . O f the 10 abno rma l children, seven had microt ia with or wi thout agenesis of the external ear canal, nine had cent ra l nervous system abnormal i t ies , and four had congeni tal hear t defects. A l though the guidelines for using isotret inoin are established, each physician must decide whether the benefit of prescribing any retinoid outweighs the chance tha t the pa t ient will conceive while taking the d rug? Despite cur ren t warnings, with increased use of isotret inoin in women of chi ldbear ing age more f requent inadver ten t exposures have occurred. Unt i l the relat ionship between the dose and dura t ion of exposure with the likelihood and severity of a mal format ion is be t ter understood, the desirabil i ty of cont inuing the pregnancy af ter an exposure should be discussed. Physicians should document tha t sexually active female pat ients are not p regnant when the drug is begun, are using effective b i r th control methods, and are provided with wr i t ten informat ion about the teratogenic effects of this drug.

Syndrome and Deafness (I)

Deafness as a part of syndrome with congenital cranio-facial-oral anomalies was described in this paper.Because of a great number of syndrome with congenital dysplasia and intermediate type between every syndromes, it is not always easy to make a differential diagnosis for such a congenital anomalies.In this present paper, Apert's, Crouzon's, Mohr's, Pierre Robin's and Treacher Collins's syndrome were enumerated and their characteristic clinical symptoms, especially otological manifestations and the character of deafness were elucidated.