title: Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.
abstract: Chondrodysplasia punctata, a skeletal dysplasia with craniofacial dysmorphism and joint contractures can occur with rhizomelia, mesomelia or both. The rhizomelic form is generally lethal, whereas one form of mesomelic chondrodysplasia punctata has been described that is associated with a presumably normal lifespan and intelligence. We describe a case of a fetus suspected prenatally of having rhizomelic chondrodysplasia punctata, who was subsequently diagnosed at 1.5 years of age to have the tibia-metacarpal form of chondrodysplasia punctata. The prenatal sonographic findings of second-trimester micromelic bone shortening and third-trimester proximal femoral stippling may be present in the rhizomelic form but are not specific to this condition.
authors.affiliation: Division of Maternal-Fetal Medicine, West Michigan Perinatal and Genetic Diagnostic Center, Butterworth Hospital, Grand Rapids, Michigan, USA.
authors.forename: K M
authors.initials: KM
authors.lastname: Argo
authors.forename: H V
authors.initials: HV
authors.lastname: Toriello
authors.forename: R D
authors.initials: RD
authors.lastname: Jelsema
authors.forename: L J
authors.initials: LJ
authors.lastname: Zuidema
mesh_terms: D000328:Adult; D002806:Chondrodysplasia Punctata / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000503:physiopathology; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005500:Follow-Up Studies; D005865:Gestational Age; D006801:Humans; D008663:Metacarpus / Q000002:abnormalities / Q000000981:diagnostic imaging; D011247:Pregnancy; D011248:Pregnancy Complications / Q000000981:diagnostic imaging* / Q000503:physiopathology; D011256:Pregnancy Outcome; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal