title: Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?
abstract: We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic examination revealed punctate epiphyses and coronal clefting of the thoracic spine. The hand radiographs showed some similarities to the brachytelephalangic type of chondrodysplasia punctata. However, the disorder did not fit well with any known entity of chondrodysplasia punctata or other condition characterized by punctate epiphyses.
authors.affiliation: Department of Medical Genetics, University Hospital of Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.
authors.forename: G R
authors.initials: GR
authors.lastname: Mortier
authors.forename: L M
authors.initials: LM
authors.lastname: Messiaen
authors.forename: M
authors.initials: M
authors.lastname: Espeel
authors.forename: K J
authors.initials: KJ
authors.lastname: Smets
authors.forename: B D
authors.initials: BD
authors.lastname: Vanzieleghem
authors.forename: F
authors.initials: F
authors.lastname: Roels
authors.forename: A M
authors.initials: AM
authors.lastname: De Paepe
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging* / Q000235:genetics; D004838:Epiphyses / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome