Milunsky J, Suntra C, MacDonald C B
Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118-2526, USA.
Am J Med Genet. 1999 Feb 19;82(5):404-8.
We report on a family with conductive hearing loss due to congenital stapes ankylosis, and with hyperopia, broad thumbs, and broad first toes. Neither of the studied relatives had symphalangism, possibly distinguishing this syndrome as an entity separate from the facio-audio-symphalangism and proximal symphalangism syndromes. An alternative possibility is that this family falls within the spectrum of the facioaudio-symphalangism and proximal symphalangism syndromes. Visualization of the ossicular chain, and ophthalmologic and radiologic studies are important in the evaluation of families with congenital conductive hearing loss. A characteristic physiognomy in our patients is present; this autosomal dominant syndrome was first described by Teunissen and Cremers [1990: Laryngoscope 100:380-384].
我们报告了一个因先天性镫骨固定导致传导性听力损失的家族，该家族成员还伴有远视、拇指宽大和第一趾宽大。所研究的亲属均无关节粘连，这可能使该综合征成为一种有别于面-听-关节粘连综合征和近端关节粘连综合征的独立病症。另一种可能性是，这个家族属于面-听-关节粘连综合征和近端关节粘连综合征的范畴。听骨链的可视化以及眼科和放射学检查对于评估先天性传导性听力损失家族很重要。我们的患者存在特征性面容；这种常染色体显性综合征最早由特尼斯森和克雷默斯于1990年描述[《喉镜》100:380 - 384]。
