Genuardi M, Gasparini P, Neri G, Zelante L
Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia A. Gemelli, Università Cattolica del S. Cuore, Rome, Italy.
Am J Med Genet. 1997 Jan 20;68(2):190-4. doi: 10.1002/(sici)1096-8628(19970120)68:2<190::aid-ajmg14>3.0.co;2-p.
The limb-pelvis hypoplasia/aplasia (LPHA) syndrome is a rare condition of skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora, sometimes associated with extraskeletal defects. Most reported patients are from the Middle East, and autosomal recessive inheritance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a baby girl presenting with the phenotypic characteristics of LPHA. This is second observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hypoplasia and absence of the the 4th and 5th digital rays. The possible link between these cases is discussed in the light of the developmental field theory.
肢体-骨盆发育不全/发育不全（LPHA）综合征是一种罕见的骨骼畸形疾病，影响尺骨、骨盆骨、腓骨和股骨，有时还伴有骨骼外缺陷。大多数报告的患者来自中东地区，基于近亲结婚所生的多个患病同胞的出现，明确证实了其常染色体隐性遗传。在此，我们报告一名具有LPHA表型特征的女婴。这是意大利对LPHA的第二次观察，也是中东以外地区的第四次观察。患儿父亲的一级表亲的子女有单侧腓骨发育不全以及第4和第5指骨缺如。根据发育场理论对这些病例之间可能的联系进行了讨论。
