Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester

Prenatal Diagnosis

Volumn 24, Issue 7, 2004, Pages 519-523

  Michel Calemard, Laurence ^a   Lesca, Gaëtan ^b,c   Morel, Yves ^a   Boggio, Dominique ^b   Plauchu, Henri ^b   Attia Sobo, Jocelyne ^b  

^a HÔPITAL DEBROUSSE   (France)

^b HÔTEL DIEU   (France)

^c EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

Acampomelic; Campomelic dysplasia; Nuchal translucency; SOX9

Indexed keywords

STEROID HORMONE; TESTOSTERONE;

AMENORRHEA; AMNIOCENTESIS; ARTICLE; CAMPOMELIC ACAMPOMELIC DYSPLASIA; CASE REPORT; DISEASE SEVERITY; DYSPLASIA; FACE DYSMORPHIA; FEMALE GENITAL SYSTEM; FEMUR; FETUS; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; HYPOPLASIA; KARYOTYPE 46,XY; LONG BONE; MACROCEPHALY; PREGNANCY TERMINATION; PRIORITY JOURNAL; SCAPULA; SOX9 GENE; X RAY;

AMNIOCENTESIS; CYTOGENETIC ANALYSIS; FEMALE; HIGH MOBILITY GROUP PROTEINS; HUMANS; KARYOTYPING; MUTATION; NUCHAL TRANSLUCENCY MEASUREMENT; OSTEOCHONDRODYSPLASIAS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; SEX REVERSAL, GONADAL; TESTOSTERONE; TRANSCRIPTION FACTORS; ULTRASONOGRAPHY, PRENATAL;

EID: 4043152799     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.935     Document Type: Article

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