title: Skeletal malformations in fetuses with Meckel syndrome.
abstract: In six fetuses with Meckel syndrome (gestational age 16-23 weeks, crown-rump length 130-170 mm) the skeleton was examined as part of the autopsy procedure using whole body radiography and special radiographic techniques. In the upper and lower limbs we found similar types of polydactyly. We noted four 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 the 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 of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included in the future evaluation of phenotypes in Meckel syndrome.
authors.affiliation: Department of Pathology, Hvidovre University Hospital, Copenhagen, Denmark.
authors.forename: K W
authors.initials: KW
authors.lastname: Kjaer
authors.forename: B
authors.initials: B
authors.lastname: Fischer Hansen
authors.forename: J W
authors.initials: JW
authors.lastname: Keeling
authors.forename: I
authors.initials: I
authors.lastname: Kjaer
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D004677:Encephalocele / Q000000981:diagnostic imaging / Q000196:embryology; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging; D005528:Foot / Q000000981:diagnostic imaging / Q000196:embryology; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000196:embryology; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000196:embryology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D013577:Syndrome