Sillence D O, Barlow K K, Garber A P, Hall J G, Rimoin D L
Am J Med Genet. 1984 Feb;17(2):407-23. doi: 10.1002/ajmg.1320170204.
A group of fetuses with a perinatally lethal variety of osteogenesis imperfecta (O.I. type II) is characterized by short limbs, and clinical and roentgenological evidence of severe osseous fragility and defective ossification. Forty-eight cases were reviewed and can be subdivided into 3 groups on the basis of small but probably significant differences in clinical and radiographic findings. Group A (38 cases): short, broad, "crumpled" long bones, angulation of tibiae and continuously beaded ribs. Group B (6 cases): short, broad, crumpled femora, angulation of tibiae but normal ribs or ribs with incomplete beading. Group C (4 cases): long, thin, inadequately modelled, rectangular long bones with multiple fractures and thin beaded ribs. Consistency of findings within sibships suggests the groups reflect genetic heterogeneity. An increased frequency of parental consanguinity, sib occurrence with normal parents, and normal mean paternal age at birth, suggest that most cases of O.I. type II represent autosomal recessive traits. Some previously reported cases and the biochemical findings in one case suggest still further genetic heterogeneity.
一组患有围生期致死型成骨不全（II型成骨不全）的胎儿具有四肢短小的特征，并有严重骨质脆弱和骨化缺陷的临床及放射学证据。回顾了48例病例，根据临床和影像学表现上虽小但可能具有显著意义的差异可将其分为3组。A组（38例）：短小、宽阔、“皱缩”的长骨，胫骨成角，肋骨连续串珠状。B组（6例）：短小、宽阔、皱缩的股骨，胫骨成角，但肋骨正常或肋骨串珠不完全。C组（4例）：长而细、塑形不佳的长方形长骨，有多处骨折，肋骨细串珠状。同胞间检查结果的一致性表明这些组反映了基因异质性。父母近亲结婚频率增加、正常父母生育同胞患者以及出生时父亲平均年龄正常，提示大多数II型成骨不全病例表现为常染色体隐性性状。一些先前报道的病例以及1例的生化检查结果提示存在进一步的基因异质性。
