Treacher-Collins syndrome

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 7

                       


(per page)
PMID (PMCID)
24902142
 FEMALE Adult
Ex utero intrapartum treatment of fetal micrognathia.
DaValle B, Nagel E, Gonzalez S, Gaconnet C, Latendresse T, You W, Johnson C, Brigger M.
Mil Med. 2014;179(6):e705-11.
A 26-year-old female presents with a 20-week ultrasound and subsequent magnetic resonance imaging demonstrating severe fetal micrognathia (jaw index below the 5th percentile), glossoptosis, polyhydramnios, absence of a gastric bubble, and suspected microtia concerning for Treacher Collins syndrome.
20199649
 MIXED_SAMPLE Child
The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia.
Miller SD, Glynn SF, Kiely JL, McNicholas WT.
Respirology. 2010;15(2):377-9.
Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia.
19334086
 MIXED_SAMPLE Infant
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
Wieczorek D, Gener B, Gonzalez MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR.
Am J Med Genet A. 2009;149A(5):837-43.
Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness.
16801042
 MALE Infant, Newborn
Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.
Su PH, Chen JY, Chen SJ, Yu JS.
J Formos Med Assoc. 2006;105(6):518-21.
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate.
16573158
 MIXED_SAMPLE Child
[Analysis of the complications following mandibular distraction using internal distractors].
Wu GP, Teng L, Gui L, Sun XM, Zhang ZY, Liu JF, Yu B, Xia DL, Luo JC.
Zhonghua Zheng Xing Wai Ke Za Zhi. 2006;22(1):18-21.
The diseases included hemifacial microsomia in 27 cases, congenital or acquired mandibular hypoplasia and micrognathia bilateral in 8 cases and unilateral in 4 cases, electronical injury or postoperative mandibular defects in 3 cases, Treacher Collins syndrome in 2 cases, obstructive sleep apnea syndrome in 2 cases.
2013738
 MIXED_SAMPLE Adult
Sleep apnoea syndrome associated with maxillofacial abnormalities.
Colmenero C, Esteban R, Albarino AR, Colmenero B.
J Laryngol Otol. 1991;105(2):94-100.
They consisted of two cases with TMJ ankylosis with micrognathia, one case with Treacher Collins Syndrome, and one case with the Long Face Syndrome.
6936100
 MALE Child
Obstructive sleep apnea in Treacher-Collins syndrome.
Johnston C, Taussig LM, Koopmann C, Smith P, Bjelland J.
Cleft Palate J. 1981;18(1):39-44.
Because of micrognathia, patients with Treacher-Collins syndrome are at high risk for developing obstructive sleep apnea.