Thomson G S, Reynolds C P, Cruickshank J
Clin Radiol. 1982 Sep;33(5):509-17. doi: 10.1016/s0009-9260(82)80160-8.
Two cases of Majewski dwarfism are reported. both were the product of the same non-consanguinous marriage and each exhibited the key features of this syndrome: polysyndactyly, short ribs, cleft lip, disproportionately short tibiae and a normal pelvis. The first infant, a baby boy, died shortly after birth, whilst the second was detected prenatally by ultrasound and had female characteristics. Several skeletal dysplasias have been demonstrated in utero by ultrasound, but we believe this to be the first reported case of a Majewski dwarf detected by this method. In view of the difficulty in diagnosis of this syndrome comparison is made with other short rib-polydactyly syndromes.
报告了两例马耶夫斯基侏儒症病例。两者均为同一非近亲婚姻的产物，且均表现出该综合征的关键特征：多指（趾）畸形、短肋骨、唇裂、胫骨不成比例地短以及骨盆正常。第一名婴儿是男婴，出生后不久死亡，而第二名婴儿在产前通过超声检查发现，具有女性特征。超声已在子宫内证实了几种骨骼发育异常，但我们认为这是通过该方法检测出的首例马耶夫斯基侏儒症报告病例。鉴于该综合征诊断困难，文中将其与其他短肋骨多指（趾）综合征进行了比较。
