Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez.
SourceAmerican Journal of Medical Genetics, 113, 1, (2002), pp. 97-100
Article / Letter to editor
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American Journal of Medical Genetics
SubjectElucidation of hereditary disorders and their molecular diagnosis; Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
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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