Campomelic dysplasia: Echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases

Fetal Diagnosis and Therapy

Volumn 24, Issue 4, 2009, Pages 452-457

  Massardier, J ^a,b   Roth, P ^a,c   Michel Calemard, L ^a,e   Rudigoz, R C ^a,d   Bouvier, R ^a,f   Dijoud, F ^a,f   Arnould, P ^g   Combourieu, D ^c   Gaucherand, P ^a,c  

^a UNIVERSITÉ DE LYON   (France)

^b HÔTEL DIEU   (France)

^c HFME   (France)

^d CROIX ROUSSE HOSPITAL   (France)

^e Laboratoire d'Endocrinologie Moléculaire et Maladies Rares   (France)

^f Laboratoire d'Anatomopathologie   (France)

^g Centre Hospitalier de la Region d'Annecy   (France)

Author keywords

Campomelic dysplasia; First trimester; SOX9; Ultrasonography

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

ADULT; ANAMNESIS; ARTICLE; BONE DYSPLASIA; CAMPTOMELIC DYSPLASIA; CASE REPORT; CLINICAL FEATURE; ECHOGRAPHY; FEMALE; FETUS MONITORING; FIRST TRIMESTER PREGNANCY; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; PREGNANCY TERMINATION; PRIORITY JOURNAL; X RAY;

ABORTION, INDUCED; ADULT; BASE SEQUENCE; CAMPOMELIC DYSPLASIA; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC SCREENING; GESTATIONAL AGE; HUMANS; POINT MUTATION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; SOX9 TRANSCRIPTION FACTOR; ULTRASONOGRAPHY, PRENATAL;

EID: 56449131007     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000176299     Document Type: Article

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