Beemer F A, Langer L O, Klep-de Pater J M, Hemmes A M, Bylsma J B, Pauli R M, Myers T L, Haws C C
Am J Med Genet. 1983 Jan;14(1):115-23. doi: 10.1002/ajmg.1320140116.
We describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs. Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present. Comparison with earlier described short-rib/short-rib-polydactyly syndromes suggest that the disorder present in our two cases is a new type of short-rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real-time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short-rib syndrome may be an autosomal recessive disorder.
我们描述了两名出生后不久即死亡的无亲缘关系的畸形婴儿，他们有多种先天性异常，包括水肿和腹水、面部畸形（上唇正中裂）、胸廓狭窄、腹部突出以及四肢短且弯曲。尸检X线片显示肋骨非常短，长管状骨不成比例地短；未见干骺端异常。与先前描述的短肋/短肋多指综合征比较表明，我们这两例患者所患疾病是一种新型短肋综合征。我们的一名患者为近亲结婚夫妇所生；在随后的一次妊娠中，孕中期实时超声检查显示女性胎儿与其同胞有相同的异常。选择性流产后诊断得到证实。这表明这种短肋综合征可能是常染色体隐性疾病。
