Skeletal malformations in fetuses with Meckel syndrome

In six fetuses with Meckel syndrome (gestational age 16-23 weeks, crown-rum p length 130-170 mm) the skeleton was examined as part of the autopsy proce dure using whole body radiography and special radiographic techniques. In t he upper and lower limbs we found similar types of polydactyly. We noted fo ur types, based on the number and morphology of metacarpals and metatarsals , In the individual fetus there was more often similarity in the pattern of malformation in the two hands or in the two feet than there was between th e pattern of malformation seen in the hands and that seen in the feet. Only one foot was normal. Malformations of the cranial base (the basilar part o f the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (clef t) in three cases. It is proposed that a skeletal analysis be included in t he future evaluation of phenotypes in Meckel syndrome. Am, J, Med. Genet. 8 4: 469-475, 1999. (C) 1999 Wiley-Liss, Inc.