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Verloes, A. et al.

Pseudoaminopterin syndrome.

We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick, abnormal auricles, ASD, minor hand anomalies, growth and mental retardation. Three convincing cases of "Aminopterin Syndrome Sine Aminopterin" have been reported (the fourth case possibly having the Juberg-Hayward syndrome). Variability and heterogeneity of cases with apparent aminopterin embryopathy are discussed.[1]

References

Pseudoaminopterin syndrome. Verloes, A., Bricteux, G., Koulischer, L. Am. J. Med. Genet. (1993) [Pubmed]

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