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, absence of fibulae, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation.

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doi.org/10.1002/ajmg.10729, hdl.handle.net/1765/65698
American Journal of Medical Genetics
Department of Gynaecology & Obstetrics

Wessels, M.W, den Hollander, N.S, Cohen-Overbeek, T.E, Lesnik Oberstein, M.S, Nash, J.H.E, Wladimiroff, J.W, … Willems, P.J. (2002). Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez. American Journal of Medical Genetics, 113(1), 97–100. doi:10.1002/ajmg.10729