Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages.
Three fetuses with agnathia-otocephaly complex representing different degrees of embryonic maldevelopment are reported. The study of the three cases and of the anterior embryonic disc supports the concept that an altered embryologic development might have taken place at Carnegie stages 10 (embryonic days 22 or 23) and 11 (embryonic days 23-26). Karyotypic abnormalities and aberrant gene expression of sonic hedgehog and paired-related homeobox genes are discussed as the cytogenetic and molecular basis of agnathia-otocephaly complex.
Schiffer
Christiane
C
Genetische Poliklinik, Institut für Humangenetik, Universität Heidelberg, Heidelberg, Germany.
Tariverdian
Gholamali
G
Schiesser
Monika
M
Thomas
Mary C
MC
Sergi
Consolato
C
D004423:Ear / Q000002:abnormalities* / Q000196:embryology; D005260:Female; D005801:Genes, Homeobox; D053823:Hedgehog Proteins; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities* / Q000196:embryology; D015534:Trans-Activators / Q000235:genetics
D053823:Hedgehog Proteins; C509239:SHH protein, human; D015534:Trans-Activators