Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C
Am J Med Genet. 1983 Jan;14(1):139-47. doi: 10.1002/ajmg.1320140119.
Sisters with the Antley-Bixler syndrome are reported herein. The first infant died at 14 days of respiratory failure and the following findings characteristic of the syndrome: craniosynostosis of coronal and lambdoid sutures, brachycephaly, frontal bossing, severe midface hypoplasia with proptosis and choanal stenosis/atresia, humero-radial synostosis, medial bowing of ulnae, long slender fingers with camptodactyly, narrow iliac wings, anterior bowing of femora, cardiac and renal malformations. Unlike two previously published cases, she did not have connatal fractures, but she had vaginal atresia. Ultrasound examination in a subsequent pregnancy showed immobility at the elbows of the fetus, humero-radial synostosis, medial bowing of ulnae, and long hands and fingers. The fetus also had mild bowing of femora. The pregnancy was terminated in the 21st week and the findings were confirmed by clinical and radiologic examinations. Additional autopsy findings included cardiac and renal malformations. The Antley-Bixler syndrome is a recognizable malformation syndrome with a probable autosomal recessive mode of inheritance, which can be diagnosed in the fetus by midtrimester ultrasound examination.
本文报道了患有安特利-比克斯勒综合征的姐妹。第一个婴儿在14天时死于呼吸衰竭，并具有该综合征的以下典型表现：冠状缝和人字缝颅缝早闭、短头畸形、额部隆起、严重的面中部发育不全伴眼球突出和后鼻孔狭窄/闭锁、肱桡关节融合、尺骨向内侧弯曲、手指细长并伴有屈曲指、髂骨翼狭窄、股骨向前弯曲、心脏和肾脏畸形。与之前发表的两例病例不同，她没有先天性骨折，但有阴道闭锁。在随后的一次妊娠中，超声检查显示胎儿肘部活动受限、肱桡关节融合、尺骨向内侧弯曲以及手和手指细长。胎儿还伴有股骨轻度弯曲。妊娠在第21周终止，临床和放射学检查证实了这些发现。尸检的其他发现包括心脏和肾脏畸形。安特利-比克斯勒综合征是一种可识别的畸形综合征，可能为常染色体隐性遗传模式，可在孕中期通过超声检查在胎儿中诊断出来。
