Behrents R G, McNamara J A, Avery J K
Cleft Palate J. 1977 Jan;14(1):13-34.
The clinical, radiographic, and histologic aspects of Mandibulofacial Dysostosis (Treacher Collins Syndrome)--MFD--are described as observed in a human fetus of approximately 15 weeks gestation age. Findings in the present study do not differ significantly from those previously reported, as the abnormal fetus exhibited the peculiar ocular, otic, and mandibular defects common in descriptions of postnatal survivors. Although exhibiting the major signs and symptoms of MFD even at this early developmental stage, previously unreported relationships dealing with the ossification of the mandible and salivary gland hyperplasia are noted. Contrary to expectation, vascularization appears excessive. The pathogenesis of the events leading to the deformities of the first and second branchial arches is extrapolated to seven weeks in utero.
本文描述了在一名妊娠约15周龄的人类胎儿中观察到的下颌面骨发育不全（特雷彻·柯林斯综合征，MFD）的临床、影像学和组织学特征。本研究的结果与先前报道的结果没有显著差异，因为该异常胎儿表现出了产后幸存者描述中常见的特殊眼部、耳部和下颌缺陷。尽管在这个早期发育阶段就表现出了MFD的主要体征和症状，但仍注意到了与下颌骨骨化和唾液腺增生相关的先前未报道的关系。与预期相反，血管化似乎过度。导致第一和第二鳃弓畸形的事件的发病机制推断为子宫内7周。
