Shin Seong Hwan, StJoseph Emma, Mannan Khalid, Khan Khalid
Basildon and Thurrock University Hospital, Nether Mayne, Basildon SS16 5NL, United Kingdom.
Barking, Havering and Redbridge University Hospitals NHS Trust, Queen's Hospital, Rom Valley Way, Romford, Essex RM7 0AG, United Kingdom.
Radiol Case Rep. 2019 Jan 24;14(4):448-451. doi: 10.1016/j.radcr.2019.01.003. eCollection 2019 Apr.
Chitayat syndrome is a rare genetic syndrome characterised by bilateral hyperphalangism, bronchomalacia, hallux valgus, and other facial dysmorphism including large anterior fontanelle, hypertelorism, and anteverted nostrils. Since the initial discovery, only few cases of Chitayat syndrome have been reported in the literature. Previous literatures showed the genetic link between 5 case reports, showing that a unique link of recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene may be the contributory genetic cause of Chitayat syndrome. However, it still remains as an unfamiliar genetic syndrome. In this case report, we aim to discuss a rare case of Chitayat syndrome and demonstrate the radiological findings associated.
奇塔亚特综合征是一种罕见的遗传综合征，其特征为双侧多指（趾）畸形、支气管软化、拇外翻以及其他面部畸形，包括前囟门大、眼距过宽和鼻孔前倾。自首次发现以来，文献中仅报道了少数几例奇塔亚特综合征病例。先前的文献显示了5例病例报告之间的遗传联系，表明ERF基因中反复出现的c.266A>G p.(Tyr89Cys)变异的独特联系可能是奇塔亚特综合征的致病遗传原因。然而，它仍然是一种鲜为人知的遗传综合征。在本病例报告中，我们旨在讨论一例罕见的奇塔亚特综合征病例，并展示相关的影像学表现。
