Cantú J M, García-Cruz D, Gil-Viera J, Nazará Z, Ramírez M L, Solé-Pujol M T, Sánchez-Corona J
Clin Genet. 1985 Jul;28(1):54-60. doi: 10.1111/j.1399-0004.1985.tb01218.x.
Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygosity from an autosomal recessive gene.
两名姐妹和一名无血缘关系的女孩表现出一种独特的宫内生长迟缓-畸形综合征,其特征为身材矮小、小头畸形、漏斗胸、髋关节脱位、耻骨区域和生殖器发育不全、手指屈曲、足畸形、第二脚趾缩短、髌骨发育不全以及可能由常染色体隐性基因纯合性导致的骨骼发育异常。