Atypical acrofacial dysostosis syndrome.
We describe a male fetus with a combination of defects, including severe mandibulofacial dysostosis, holoprosencephaly, upper limb deficiency, and microgastria. These abnormalities indicate a severe defect of gastrulation/blastogenesis predominantly affecting cephalad structures. This combination of anomalies has to our knowledge not previously been described. We propose that the anomaly pattern represents either a blastogenesis-related association, or a microgastria-limb deficiency polytopic field defect.
Department of Human Genetics and Developmental Biology, University of Pretoria, Republic of South Africa.
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Christianson
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Kruger
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Dini
D000015:Abnormalities, Multiple; D003394:Craniofacial Dysostosis; D004480:Ectromelia; D005333:Fetus / Q000002:abnormalities; D016142:Holoprosencephaly; D006801:Humans; D008297:Male; D013270:Stomach / Q000002:abnormalities; D013577:Syndrome