title: Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.
abstract: OBJECTIVE
  Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies.
  
  
  METHODS
  We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management.
  
  
  RESULTS
  Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed.
  
  
  CONCLUSIONS
  Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, AUSL (Azienda Unità Sanitaria Locale) Reggio Emilia, Italy. Electronic address: tonnig@ausl.re.it.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.affiliation: Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, AUSL (Azienda Unità Sanitaria Locale) Reggio Emilia, Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Palmisano
authors.affiliation: Preconception and Prenatal Diagnostic Centre, IRCCS (Istituto di Ricerca a Carattere Clinico Scientifico) Galliera Hospital, Genoa, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Lituania
authors.affiliation: Prenatal Diagnositc Unit, Department of Obstetrics & Gynecology, "C. Poma" Hospital, Mantua, Italy.
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: Grisolia
authors.affiliation: Human Genetics Service, Molecular Biology Section, IRCCS (Istituto di Ricerca a Carattere Clinico Scientifico) Galliera Hospital, Genoa, Italy.
authors.forename: Ave Maria
authors.initials: AM
authors.lastname: Baffico
authors.affiliation: Pathology Unit, Arcispedale "Santa Maria Nuova", IRCCS (Istituto di Ricerca a Carattere Clinico Scientifico), Reggio Emilia, Italy.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Bonasoni
authors.affiliation: Diagnostic Imaging Service, Arcispedale "Santa Maria Nuova", IRCCS (Istituto di Ricerca a Carattere Clinico Scientifico), Reggio Emilia, Italy.
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Pattacini
authors.affiliation: Neonatal Intensive Care Unit, Santa Maria alle Scotte Hospital, University of Siena, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: De Felice
authors.affiliation: Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
authors.forename: Edward
authors.initials: E
authors.lastname: Araujo Júnior
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D000465:Algorithms; D055036:Campomelic Dysplasia / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005315:Fetal Diseases; D006801:Humans; D008210:Lymphocele / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D021782:Multicystic Dysplastic Kidney / Q000175:diagnosis* / Q000235:genetics; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics; D010855:Pierre Robin Syndrome / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D013154:Spleen / Q000002:abnormalities*; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal
keywords: bowing long bones; chondral plate histology; molecular biology; prenatal diagnosis; radiographic imaging