title: Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium.
abstract: We present an infant with the lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the sonographic detection of a narrow chest, postaxial hexadactyly of the hands and feet, short limbs and a single atrium. The postnatal radiographic features of the skeleton favoured the diagnosis of Verma-Naumoff type or Saldino-Noonan type short rib-polydactyly syndrome (SRPS). We discuss the criteria for the differential diagnosis of patients with SRPS, which can be difficult because of the overlap of the various phenotypes.
authors.affiliation: Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba 305, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Horigome
authors.forename: H
authors.initials: H
authors.lastname: Hamada
authors.forename: S
authors.initials: S
authors.lastname: Sohda
authors.forename: Y
authors.initials: Y
authors.lastname: Oyake
authors.forename: Y
authors.initials: Y
authors.lastname: Kurosaki
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D004613:Ellis-Van Creveld Syndrome / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006325:Heart Atria / Q000002:abnormalities / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000175:diagnosis* / Q000000981:diagnostic imaging; D010641:Phenotype; D011247:Pregnancy; D011859:Radiography; D016216:Ultrasonography, Prenatal