Mingarelli R, Castriota Scanderbeg A, Dallapiccola B
Cattedra di Genetica Medica, Università Tor Vergata, Rome, Italy.
J Med Genet. 1996 Oct;33(10):884-6. doi: 10.1136/jmg.33.10.884.
Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.
本文描述了一对成年姐妹，她们患有面部、眼部和骨骼缺陷以及腹肌发育不全的独特组合，提示为常染色体隐性遗传。其中许多特征与先前在其他畸形综合征中发现的特征重叠。然而，这些患者中观察到的缺陷组合似乎代表了一种先前未报道的综合征，且很可能是常染色体隐性遗传。
