Treacher Collins syndrome: a case report

Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita

doi:10.1136/bcr-2013-009341

Cited by 7 publications

(8 citation statements)

References 5 publications

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“…In contrast, some patients may succumb to respiratory distress soon after birth due to the severity of TCS symptoms (26). More than 60% of patients with TCS have no positive family history and the condition is thought to arise from de novo mutations (5). At present, the reason for the differences in TCS presentation remains unknown.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, >60% of patients with TCS have no previous family history of the disease and TCS arises as the result of de novo mutations (6,17). Affected individuals may transmit the defect to each child with a 50% probability according to Mendelian laws of genetics, which emphasizes the importance of genetic counseling to affected individuals (5). In the present study, the clinical findings and molecular diagnosis of a Chinese family with TCS are reported.…”

Section: Introductionmentioning

confidence: 86%

“…Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformation that occurs in 1 out of 50,000 live births (1)(2)(3)(4). The condition was first described by Thompson in 1846, however TCS was named after E. Treacher Collins, who described the essential components of the condition in 1900 (5). The first extensive review of the condition was performed by Franceschetti and Klein in 1949, who used the term mandibulofacial dysostosis (MFD) to describe relative clinical features (6)(7)(8).…”

Section: Introductionmentioning

confidence: 99%

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Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Yan

Wang

et al. 2018

Exp Ther Med

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Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral fissures and malformation of the external and middle ear. Worldwide, 90% of cases of TCS are caused by mutations in the gene, which are inherited via an autosomal dominant pattern, while<2% cases are caused by and genes, which are inherited via autosomal dominant and autosomal recessive patterns, respectively. The present study describes the clinical findings and molecular diagnostics of a Chinese family with TCS. TCS was diagnosed in a 9-year-old female Chinese proband and her mother, while no craniofacial abnormalities were apparent in other family members. Exons of the gene and segregation analysis were used to examine causative mutations using the Sanger sequencing approach. A single novel heterozygous mutation in exon 3 splicing site c.165-1G>A was detected in the proband. Furthermore, the same mutation was identified in her mother, but not in other family members. These results suggest that c.165-1G>A is a novel heterozygous mutation of the gene that caused the development of TCS in the proband and her mother. The mutation that was identified in proband was inherited from her mother and so can be considered as mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 86%

Section: Introductionmentioning

confidence: 99%

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Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Yan

Wang

et al. 2018

Exp Ther Med

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“…Hypoplasia of varying degrees may also be seen in the external ear canals and middle ear bones, leading to hearing loss12. The diagnosis of TCS is performed with the help of a detailed clinical evaluation and molecular genetic tests11. The patient in this case had already been diagnosed with TCS, and had the characteristic clinical features.…”

Section: Discussionmentioning

confidence: 97%

“…TCS is characterized by a convex facial profile, prominent nasal dorsum, retrusive lower jaw and zygomatic bone, and hypoplastic mandible811. The external ears may also be absent, malformed or mispositioned.…”

Section: Discussionmentioning

confidence: 99%

Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible

Damlar

Altan

Turgay

et al. 2016

J Korean Assoc Oral Maxillofac Surg

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In this study, we present the surgical treatment of obstructive sleep apnea in a child with Treacher Collins syndrome. A 10-year-old girl with a past history of Treacher Collins syndrome presented to our clinic with her parents for respiratory distress and insomnia. The patient was referred to a sleep laboratory where she was diagnosed with obstructive sleep apnea, which was a consequence of her Treacher Collins syndrome. The patient underwent mandibular distraction osteogenesis under general anesthesia. The mandible was expanded by 15 mm using internal bilateral distractors. After distraction osteogenesis, the patient’s respiratory problems resolved, and she was able to sleep comfortably. Distraction osteogenesis was an effective method of advancing the mandible, increasing the upper airway space and ultimately preventing obstructive sleep apnea syndrome in patients with Treacher Collins syndrome.

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Treacher Collins syndrome – a case report

Fraszczyk-Tousty

Jankowska

Tousty

et al. 2022

Case Reports in Perinatal Medicine

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Objectives Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones. In most cases, TCS is the result of a mutation in the TCOF1 gene. The incidence is estimated to be between 1/10,000 and 1/50,000 live births. Our purpose was to describe a case report of patient with TCS born in the Department of Neonatology at the Pomeranian Medical University in Szczecin (Poland) and his family with short review of literature. Case presentation Clinical abnormalities which were found after birth mainly affect the head – hypoplasia of the cheek bones and the zygomatic bones, micrognation, deformed auricles with undeveloped external auditory canals, retrognathia of the mandible, cleft hard and soft palate and narrow palpebral fissure. Conclusions The treatment of children with TCS is long-term. Patients require a series of reconstructive and plastic surgical procedures. Our patient presented the complete form of TCS. There are multiple surgeries awaiting him, which, eventually, will improve his quality of life.

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Treacher Collins syndrome: a case report

Cited by 7 publications

References 5 publications

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible

Treacher Collins syndrome – a case report

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