Solomon L, Jimenez R B, Reiner L
Arch Pathol Lab Med. 1978 Apr;102(4):201-5.
Two Puerto Rican infants, offsprings of nonconsanguineous parents, died with spondylothoracic dysostosis as characterized by widespread anomalies of the spine (malformed vertebral bodies including hemivertebrae), deformity of the thorax, and fan-like configuration of the ribs. The disease was lethal in early life in the 18 cases previously reported. An autosomal-recessive inheritance has been described. Spondylocostal dysostosis, a related entity, showed associated intrinsic anomalies of the ribs. The 17 cases culled from the literature pursued a milder course, affected mainly older children and adults, and had a different pattern of inheritance.
两名波多黎各婴儿，其父母非近亲结婚，死于脊椎胸廓发育不良，其特征为脊柱广泛异常（包括半椎体在内的椎体畸形）、胸廓畸形以及肋骨呈扇形排列。在先前报道的18例病例中，该病在生命早期是致命的。已有报道称其为常染色体隐性遗传。脊椎肋骨发育不良是一种相关病症，表现为肋骨存在内在异常。从文献中筛选出的17例病例病情发展较为缓和，主要影响年龄较大的儿童和成年人，且具有不同的遗传模式。
