Mandibulofacial dysostosis can include various types of facial abnormalities and various degrees of severity. Possible symptomatology is broad and involves the following [8]:

Skull

Patients exhibit underdeveloped zygomatic bones, sinuses and lower jaw. The eyes are often set wide apart from each other (hyperteloric orbits) and air cells are absent from the mastoids. The cranial base is abnormally curved. The aforementioned defects are observed via radiographic imaging.

Face

The nose seems disproportionately bigger, although its actual size is regular. This is caused by underdeveloped zygomatic bones and supraorbital rims. The longitudinal opening of the eyelids follows a downwards- sloping course and the outer part of the lower lids may also feature a coloboma. A receding lower jaw is also observable. Hearing loss is frequently diagnosed in patients with mandibulofacial dysostosis and is a result of ear deformities. The external part of the ear may be abnormally shaped and, as far as the middle mechanism is concerned, the patient may exhibit meatal atresia, underdeveloped or absent incus and malleus, lack of the middle ear and monopodal stapedes. The development of fistulas connecting the tragus and the outer corner of the mouth are also observed.

Additionally, approximately 30% of patients exhibit a given inability of the soft palate to accomplish palatopharyngeal closure, which leads to a cleft palate. Parotid glands may not be present and the pharynx is markedly underdeveloped.

Mental abilities

Mandibulofacial dysostosis is not accompanied by cognitive impairment. However, the frequent and severe hearing loss due to hypoplastic ear particles often lead to a wrongly diagnosed lower intelligence.

Generally, the clinical picture of the disease features fluctuating and diverse symptomatology. Most prominent features are hearing loss of the conductive type, dysphagia due to a cleft palate, problems with vision and a backwards displacement of the tongue.

• Dysostosis

  […] mandibulofacial dysostosis man·di·bu·lo·fa·cial dysostosis man-.dib-yə-lō-.fā-shəl- n a dysostosis of the face and lower jaw inherited as an autosomal dominant trait and characterized by bilateral malformations, deformities of the outer and middle ear [medicine.academic.ru]

  Treacher-Collins Syndrome - Mandibulofacial Dysostosis (MFD1). News-Medical, viewed 02 November 2022, https://www.news-medical.net/health/Treacher-Collins-Syndrome-Mandibulofacial-Dysostosis-(MFD1).aspx. [news-medical.net]

  Human disease mandibulofacial dysostosis Franceschetti syndrome (Mandibulofacial dysostosis) or (Franceschetti syndrome) Mandibulofacial dysostosis without limb anomalies Franceschetti-Klein syndrome edit Language Label Description Also known as English [wikidata.org]

  Mandibulofacial dysostosis is a result of various mutations to the TFCO1, POLR1D and POLR1C genes. [symptoma.com]

  Treacher Collins syndrome (TCS) is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described. [ncbi.nlm.nih.gov]

• Surgical Procedure

  Later, at the age of 14 years, suitable orthognathic surgical procedures were done. [ncbi.nlm.nih.gov]

  Preoperative planning and stratification of the surgical procedure are extremely important for the final results and pacient rehab. [escipub.com]

  In severe cases, underdeveloped facial bones may restrict an infant's airway, causing potentially life-threatening respiratory problems that may require a tracheotomy, a surgical procedure to open the windpipe. [craniofacialcenter.ucsf.edu]

• Short Stature

  However, short stature can indicate an underlying medical problem. In these cases, many children can grow to a normal height with proper treatment. For others, short stature may be permanent. [healthline.com]

  This disease is characterized by brachydactyly, facial dysostosis, spinal stenosis, short stature, often intellectual disability and in some rare cases hormone resistance. [iofbonehealth.org]

  Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent [uniprot.org]

  Acrodysostosis type 2 is an autosomal dominant form of skeletal dysplasia characterised by short stature, brachydactyly, facial dysostosis and spinal stenosis. Many patients have intellectual disability and some have hormone resistance. [exeterlaboratory.com]

• Developmental Delay

  CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. [ncbi.nlm.nih.gov]

  […] loss and speech delay. [ctgt.net]

• Poor Feeding

  Airway compromise and poor feeding are issues relating to maxillary hypoplasia, mandibular hypoplasia, and narrow pharyngeal diameter. [theplasticsfella.com]

  […] language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper [rarediseases.info.nih.gov]

• Cough

  The child only takes small amounts, coughs frequently because food is inhaled, and regurgitates much of the food; tracheostomy and gavage feeding may be necessary. [emedicine.com]

• Dysphagia

  Our proband was born at 36 weeks gestation with microcephaly, microcrania, cleft palate, severe retrognathia, oral and pharyngeal dysphagia, bilateral proximal radioulnar synostosis, 11 thoracic ribs, abnormal magnetic resonance imaging (MRI) findings [ncbi.nlm.nih.gov]

  Initial psychometric assessment of a functional oral intake scale for dysphagia in stroke patients. Arch Phys Med Rehabil. 2005;86(8):1516-20. PMID: 16084801 DOI: http://dx.doi.org/10.1016/j.apmr.2004.11.049 Furkim AM, Sacco ABF. [tinnitusjournal.com]

  Most prominent features are hearing loss of the conductive type, dysphagia due to a cleft palate, problems with vision and a backwards displacement of the tongue. [symptoma.com]

• Dysphagia

  Our proband was born at 36 weeks gestation with microcephaly, microcrania, cleft palate, severe retrognathia, oral and pharyngeal dysphagia, bilateral proximal radioulnar synostosis, 11 thoracic ribs, abnormal magnetic resonance imaging (MRI) findings [ncbi.nlm.nih.gov]

  Initial psychometric assessment of a functional oral intake scale for dysphagia in stroke patients. Arch Phys Med Rehabil. 2005;86(8):1516-20. PMID: 16084801 DOI: http://dx.doi.org/10.1016/j.apmr.2004.11.049 Furkim AM, Sacco ABF. [tinnitusjournal.com]

  Most prominent features are hearing loss of the conductive type, dysphagia due to a cleft palate, problems with vision and a backwards displacement of the tongue. [symptoma.com]

• Failure to Thrive

  The syndrome is frequently accompanied by significant hearing loss, early failure to thrive, chronic respiratory insufficiency, and sleep apnea. Intelligence is usually within normal limits although learning disabilities are common in early life. [ncbi.nlm.nih.gov]

  Prone positioning or nasopharyngeal airway Tube feeding if failure to thrive Reconstruction The reconstructive strategy should be individualised to the patient. The goal is to restore function, treat deficits or excesses and improve cosmesis. [theplasticsfella.com]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Global developmental delay 0001263 Glossoptosis Retraction of the tongue 0000162 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertelorism Wide-set eyes Widely spaced [rarediseases.info.nih.gov]

• Cyanosis

  Feeding can be difficult, and sometimes cyanosis develops because the tongue is posterior and may obstruct the pharynx. [merckmanuals.com]

  The baby tends to choke, and cyanosis can be ever-present or intermittent. This occurs especially during sleep. [emedicine.com]

• Malocclusion

  […] dis'os-tō'sis ) Variable syndrome of malformations primarily of derivatives of pharyngeal arch; characterized by bony defects or hypoplasia of malar and zygomatic bones, hypoplasia of mandible, macrostomia with high or cleft palate, malposition and malocclusion [medical-dictionary.thefreedictionary.com]

  Although overlap between categories occurred, results showed that 60% had errors related to malocclusion, 30% demonstrated errors usually associated with velopharyngeal inadequacy and 50% had general articulatory or phonological errors that could be attributed [ncbi.nlm.nih.gov]

  Overall, oral hygiene was poor due to malocclusion [Figure 4]. [jclpca.org]

  The mandible deviates to the affected side, resulting in severe malocclusion; the unaffected side is elongated and flattened. [merckmanuals.com]

• Macrostomia

  ·dib·u·lo·fa·cial dys·os·to·sis ( man-dib'yū-lō-fā'shăl dis'os-tō'sis ) Variable syndrome of malformations primarily of derivatives of pharyngeal arch; characterized by bony defects or hypoplasia of malar and zygomatic bones, hypoplasia of mandible, macrostomia [medical-dictionary.thefreedictionary.com]

  […] hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia [ncbi.nlm.nih.gov]

  Macrostomia. Cleft palate and or cleft lip with palatopharyngeal incompetence. Obliteration of the nasal frontal angle with narrow nares and hypoplasia of the alar cartilages. [neuroradiologyonthenet.blogspot.com]

  Two other genes also are known to cause Treacher Collins syndrome: POLR1C and POLR1D 3. dental and mandibular retrognathia micrognathia macrostomia hypoplasia or aplasia of the condylar and coronoid processes of the mandible marked bowing of the lower [radiopaedia.org]

• Receding Chin

  Persons with the condition have downslanting eyes ( antimongoloid palpebral fissures); absence of all or part of the lower lid; underdeveloped cheekbones that appear depressed; a prominent nose, wide mouth, and small receding chin; underdeveloped, malformed [medical-dictionary.thefreedictionary.com]

  Plastic surgery can correct the receding chin and other changes in face structure. Children with this syndrome typically grow to become functioning adults of normal intelligence. [nlm.nih.gov]

  Affecting 1 in 50,000 people, the syndrome results in some or all of the following: a small lower jaw and receding chin (technically called micrognathia) a very large mouth eyes that slant downwards scanty eyelashes along the lower eyelid tiny, absent [news-medical.net]

• Visual Impairment

  An instrument (ophthalmoscope) is used to visualize the interior of the eye to detect any possibility of visual impairment. [rarediseases.org]

  In addition the child may be eligible for special education services that include teachers of students with visual impairments and/or hearing impairments and appropriate related service providers. [cde.state.co.us]

  impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose [rarediseases.info.nih.gov]

• Hearing Impairment

  impairment Microtia IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Children with hearing impairment will need support in terms of hearing aids or cochlear implant as well as speech and language therapy. [gosh.nhs.uk]

  A similar form of hearing impairment occurs in about 50% of affected individuals. TCS cannot be cured, but certain treatments may address its symptoms. [gradesaver.com]

  Management of hearing impairment should be early (hearing aids and functional surgery) to aid normal development. [orpha.net]

• Ear Deformity

  Middle ear deformities, while present in both, are more severe when associated with mandibulofacial dysostosis. [ncbi.nlm.nih.gov]

  Ear deformities range from prominent ears to misshapen ears to complete absence of the external ear. Approximately 40% of children will have hearing loss in both ears. If needed, a hearing aid should be fitted and put in place as soon as possible. [kidsplastsurg.com]

  Hearing loss is frequently diagnosed in patients with mandibulofacial dysostosis and is a result of ear deformities. [symptoma.com]

• Hearing Problem

  Careful attention should be given to any hearing problem in order for the child to realise their full potential. Prevention Genetic counselling is recommended for prospective parents with a family history of Treacher Collins' syndrome. [patient.info]

  An audiologist and an otolaryngologist will evaluate your child for hearing problems and make recommendations regarding the need for hearing assistive devices. [childrenscolorado.org]

  Careful attention to any hearing problems your child may have will help ensure better performance in school. [childrenshospital.org]

  It depends on the problems your child has, or may have in the future. If your baby does have TCS, you’ll want to get their hearing checked. Deformed bones in the face can also make it hard for your child to breathe and eat. [webmd.com]

  This can cause hearing problems if the ear's internal structures are also underdeveloped. Meanwhile, if the jaw is small or underdeveloped, this can cause problems with feeding and breathing. [thesun.co.uk]

• Low Set Ears

  An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal ear canal Hearing loss Defects in the eye (coloboma that extends into the [nlm.nih.gov]

  The common features are macrostomia, low-set ears and ear defects, high-arched palate, nasal deformity, teeth malocclusion, open bite and conductive hearing loss. [patient.info]

  The principal findings in TCS are polyhydramnios, micrognathia, low-set ears, slanting palpebral fissures, and cleft palate .Typical facial features are better illustrated with three dimensional ultrasound than with standard two-dimensional imaging.(4 [thefetus.net]

• Hypertelorism

  Convert to ICD-10-CM : 756.0 converts approximately to: 2015/16 ICD-10-CM Q75.0 Craniosynostosis Or: 2015/16 ICD-10-CM Q75.2 Hypertelorism Or: 2015/16 ICD-10-CM Q75.9 Congenital malformation of skull and face bones, unspecified Approximate Synonyms Absence [icd9data.com]

  The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking [ncbi.nlm.nih.gov]

  Hypertelorism. Preoperative appearance of patient with hypertelorism and maxillary retrusion. Hypertelorism. Preoperative appearance of patient with hypertelorism and maxillary retrusion. [emedicine.com]

  Other abnormalities ( cleft palate, colobomas of the upper lid, hypertelorism and mental retardation ) are infrequent. In severely affected patients the airway is compromised by the mandibular deficiency, glossoptosis and choanal atresia. [patient.info]

• Pierre Robin Syndrome

  syndrome and cleft palate), thumb and urogenital anomalies. [uniprot.org]

  Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia) Head and face reconstruction (Medical Encyclopedia) Pierre Robin syndrome (Medical [icdlist.com]

  Anaesthesia for Treacher Collins and Pierre Robin syndromes: A report of three cases. Can. Anaesth. Soc. J. 33 :364, 1986 Google Scholar 27. Marino, H., Appiani, E.: Dysostosis mandibulo-facial. Prensa Med. [doi.org]

  […] closure of anterior fontanel Macrocephaly Macrocephaly, relative Mandibulofacial dysostosis Micrognathia-glossoptosis Oculoauricular vertebral dysplasia Oculomandibular dysostosis Pierre Robin syndrome Relative macrocephaly Robin sequence Robin syndrome [icd9data.com]

  Pierre Robin syndrome. Preoperative appearance. Pierre Robin syndrome. Preoperative appearance. Mild cases are treated by placing the baby on its side or face down with the foot of the cot raised. [emedicine.com]

• Seizure

  Seizures are thus a main feature of mandibulofacial dysostosis with microcephaly, which results from an embryonic development defect due to the EFTUD2 mutation. [ncbi.nlm.nih.gov]

  Seizure 0001250 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Percent of people who have these symptoms is not available through HPO Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned [rarediseases.info.nih.gov]

  A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Dandy-Walker Cyst Dandy-Walker Malformation (Dwm) Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome Dandy-Walker Syndrome (Dws) Dandy-Walker-Like Syndrome David-O'Callaghan Syndrome De [neo-genetics.com]

Ultrasonographic scans conducted as part of the standard obstetrical prenatal care are able to detect facial disfigurement early during the course of pregnancy [9] [10]. A definitive diagnosis would require genetic testing of parents and fetal cells or amnic fluid, but the procedure has not been applied clinically as of yet.

Postpartum, a newborn must be thoroughly examined, if the physical examination causes suspicion to arise in the direction of mandibulofacial dysostosis. Oxygen saturation should be meticulously monitored, feeding capability must be ensured and tests conducted to diagnose hearing impairment are also mandatory. Postnatal genetic diagnosis may be an invaluable tool in cases of a doubtful diagnosis. The same pertains to craniofacial computerized tomography scans, plain radiographs and a magnetic resonance imaging scan: they can all contribute to the establishing of a definitive diagnosis and the successful assessment of surgical options. Imaging studies include:

• A full craniofacial computed tomography (CT) scan
• A cephalography, with a lateral and anteroposterior view
• MRI of the brain, to assess the auditory tract
• Panoramic radiographs
• Orthopantomography, to evaluate mandibular underdevelopment and temporomandibular joint irregularity

Treatment of mandibulofacial dysostosis is symptomatic and individualized [11].

The first step after diagnoses is to ensure oxygenation sufficiency and assess dysphagic phenomena [12]. A backwards positioning of the mandible can result in substantial airway obstruction; therapeutic measures vary depending on the degree of severity. The newborn may be positioned in a way that enables normal breathing, but if this method fails, intubation and tracheostomy may be mandatory to ensure breathing. Tracheostomy may be required for years before a normal airway can be achieved.

Young individuals who cannot feed receive gavage-mediated feeding or a gastrostomy. Hearing loss should be treated with proper aids, in order to allow for the normal mental development of the child and intrafamilial bonding.

The retropositioning of the tongue, which leads to airway obstruction can also be addressed in a more invasive manner. It is surgically attached to the lip and anterior mandible, do that it is positioned in a more forward location and releases the nasopharynx. Distraction osteogenesis is a procedure that can also be performed in order to lengthen the mandible. Incisions are made to the jaw postpartum and distraction instruments are used to achieve stretching. The process is considered successful when the mandible is stretched 10 millimeters and the instrumentation is removed. Various other surgical solutions are available, depending on the type of deformity, whether they are aesthetic procedures or aim at enhancing functionality.

Mandibulofacial dysostosis involves facial disfigurement with unimpaired intelligence. Severe cases may result in some type of disability, but surgical corrections can restore the greater part. Hearing function should be paid attention to and evaluated from a young age.

Mandibulofacial dysostosis is a genetic condition. Various genes have been identified, with TCOF1 being the predominant mutation in over 90% of the patients diagnosed with the disease [3] [4]. Ribosomal RNA formation is abnormal as a result of the mutation, which leads to a disfigured face, due to impairment of the proteins mediating the formation of the facial skeleton.

The specific pattern of inheritance depends on each individual's mutation. An abnormal TCOF1 or POLR1D gene (the latter being a less frequent mutation leading to the same phenotype) is passed down via an autosomal dominant pathway; this means that at least one parent is already affected by the disease. On the other hand, another mutation to the POLR1C gene is inherited via an autosomal recessive inheritance pattern and means that a child can be born with mandibulofacial dysostosis from two completely unaffected individuals.

Spontaneous mutations have also been observed; in fact, the majority of patients are descended from families with no other diseased member.

Mandibulofacial dysostosis affects 0.5 to 1 per 50,000 live births [5] and is usually detected postnatally. Embryos that are severely disfigured may be diagnosed during pregnancy with the aid of an ultrasonographic evaluation. Newborns with insignificant symptomatology may be diagnosed later in life, when the development of facial features makes abnormalities more prominent. 

Mandibulofacial dysostosis is a result of various mutations to the TFCO1, POLR1D and POLR1C genes. Over 90% of the patients exhibit mutations related to the TFCO1 genetic location, a mutation that is passed down to a person's offspring via an autosomal dominant pattern of inheritance; penetrance is almost always 100%. The majority of the cases, however, develop the disease as a result of a spontaneous mutation to the aforementioned genes.

The genetic location of the most clinically significant gene, TFCO1, is on chromosome 5. As of yet, 50 distinct mutations have been documented, including deletions, insertions and splicing mutations. The particular genetic locus is responsible for the regulation of the production of the treacle protein; the latter is itself responsible for the formation and shaping of the facial skeleton. The molecular pathophysiologic mechanism is believed to encompass a given haploinsufficiency, due to the premature insertion of termination codons in the reading frame [6] [7].

The condition cannot be prevented, as it is either inherited or a result of a spontaneous mutation. Genetic counseling is mandatory to parents descended from families with a history of the disease.

Mandibulofacial dysostosis (MFD) is a condition also known as Treacher-Collins syndrome and is inherited primarily via an autosomal dominant inheritance pattern. The first gene ever to be detected for this condition is the TCOF1 gene, responsible for the production of the nucleolar phosphoprotein Treacle [1]. A plethora of other genetic mutations has since been documented, which are extremely particular to the members of each family. The 5th chromosome is invariably implicated in the mutation process, according to genetic mapping carried out in many families with the condition and relatively small deleted regions can lead to the MFD syndrome.

However, more than half of the patients diagnosed with the disease are born into families with no prior medical history of mandibulofacial dysostosis, a fact which delineates the possibility of spontaneous mutations as well. The syndrome is characterized by extreme symptom variability: even though the penetrance of the abnormal gene is believed to be increased, there are family members who carry the mutation and display minimal symptomatology, even non-observable one. On the other hand, the mutation may be so intensely expressed in other newborns, that perinatal death might occur. The fluctuating clinical picture and characteristics associated with the disease indicate that not only genetics, but environmental factors and random variables play a significant role to each individual's phenotype [2].

Mandibulofacial dysostosis, otherwise known as Treacher Collins syndrome, is a congenital condition which leads to disfigured facial characteristics.

The disease is a result of genetic mutation. The gene that is most commonly involved is the TFCO1 gene on chromosome 5 and over 50 mutations have been tracked until now. This gene is responsible for the production of a protein, without which, facial characteristics cannot fully form. Mandibulofacial dysostosis most of the times occurs spontaneously, without any genetic family background (60% of the cases); in the rest of the cases it is inherited from the parents. There are two possible ways to inherit a defective gene: the autosomal recessive pattern and the autosomal dominant pattern. In cases of autosomal dominant inheritance, a parent is already affected by the condition and is they pass one defective gene to their offspring, the latter will also develop the disease. In the pattern of inheritance is the autosomal recessive one, both parents can be normal, but if they both carry a mutated gene and they both pass it down to their offspring, the child will be born with mandibulofacial dysostosis.

Most symptoms are observed simply with the eye and include underdeveloped cheek bones, abnormal ears, an opening in the roof of the mouth (cleft palate), eyes at an abnormally long distance from each other and a very small lower jaw. Sometimes the tongue is positioned backwards in the mouth; this feature alongside the small jaw may result in the obstruction of the airway. People with mandibulofacial dysostosis have normal intelligence but may have significant hearing loss.

The condition can be detected before birth. Chorionic villous sampling, amniocentesis and an ultrasonographic scan can help to diagnose the disease. After birth, a physical examination will reveal facial characteristics which are compatible with the syndrome.

Therapy is designed depending on the particular symptoms of each patient. Breathing problems are treated with a more convenient positioning of the newborn, with a tracheostomy or a surgical procedure which pulls the tongue forward, so that the airway is free. Hearing aids are used to restore hearing to a considerable degree and the cleft palate can also be surgically mended. Psychological support is of vital importance both to the children and their families.

1. Treacher Collins Syndrome Collaborative Group: Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet. 1996; 12: 130–136.
2. Dixon J, Dixon MJ. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. Dev Dyn. 2004; 229: 907–914.
3. The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet. 1996 Feb; 12(2):130-6.
4. Wise CA, Chiang LC, Paznekas WA, et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A. 1997 Apr 1; 94(7):3110-5.
5. Fazen LE, Elmore J, Nadler HL. Mandibulo-facial dysostosis (Treacher-Collins syndrome). Am J Dis Child. 1967; 113: 405–410.
6. Lines MA, Huang L, Schwartzentruber J, et al. Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. Am J Hum Genet. 2012 Feb 10; 90(2):369-77.
7. Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am. J. Hum. Genet. 1997; 60:515-524.
8. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck, 4th ed. Oxford University Press. 2001.
9. Nicolaides KH, Johansson D, Donnai D, et al. Prenatal diagnosis of mandibulofacial dysostosis. Prenat Diagn. 1984 May-Jun; 4(3):201-5.
10. Tolarova M, Zwinger A. The use of fetoscopy by inborn morphological anomalies. Acta Chir Plast. 1981; 23(3):139-51.
11. Thompson JT, Anderson PJ, David DJ. Treacher Collins Syndrome: Protocol Management From Birth to Maturity. J Craniofac Surg. 2009 Oct 29.
12. Hosking J, Zoanetti D, Carlyle A, et al. Anesthesia for Treacher Collins syndrome: a review of airway management in 240 pediatric cases. Paediatr Anaesth. 2012 Mar 7.