Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez

The group of acrofacial dysostosis (AFD) syndromes is very heterogeneous and contains many different entities. In 1990, Rodriguez et al. [1990: Am J Med Genet 35:484–489] described a new type of AFD characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absenc...

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Veröffentlicht in:	American journal of medical genetics 2002-11, Vol.113 (1), p.97-100
Hauptverfasser:	Wessels, M.W., den Hollander, N.S., Cohen‐Overbeek, T.E., Lesnik Oberstein, M.S., Nash, R.M., Wladimiroff, J.W., Niermeijer, M.F., Willems, P.J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - embryology Abortion, Induced acrofacial dysostosis Adult Biological and medical sciences Diseases of the osteoarticular system Female Hand Deformities, Congenital - diagnostic imaging Hand Deformities, Congenital - embryology Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Mandibulofacial Dysostosis - diagnostic imaging Mandibulofacial Dysostosis - embryology Medical sciences micrognathia phocomelia Pregnancy Prenatal Diagnosis Rodriguez Syndrome Ultrasonography, Prenatal ultrasound
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