Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report.
We describe the successful prenatal diagnosis of hypochondrogenesis by MRI. Fetal MR findings were the presence of a conspicuous cartilaginous structure in the basioccipital region, ill-defined ossification of the cervical vertebral bodies, hypoplastic thorax, retarded ossification of the pubic bones, and broad, short long bones. In contrast, fetal US revealed only the presence of short long bones. MRI accurately delineated the axial skeleton in this case and is an effective clinical tool for diagnosing skeletal dysplasias in utero.
Suzumura
Hiroshi
H
Department of Paediatrics, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi 321-0293, Japan. suzumura@dokkyomed.ac.jp
Kohno
Tatsuo
T
Nishimura
Gen
G
Watanabe
Hiroshi
H
Arisaka
Osamu
O
D002574:Cervical Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005333:Fetus / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010009:Osteochondrodysplasias / Q000151:congenital / Q000175:diagnosis*; D011247:Pregnancy; D011248:Pregnancy Complications; D011859:Radiography; D016216:Ultrasonography, Prenatal