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Page 1
Pseudoaminopterin syndrome.
Verloes A, Bricteux G, Koulischer L. Verloes A, et al. Am J Med Genet. 1993 Jun 1;46(4):394-7. doi: 10.1002/ajmg.1320460410. Am J Med Genet. 1993. PMID: 8357010 Review.
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, min …
We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, po …
The orocraniodigital syndrome of Juberg and Hayward.
Verloes A, Le Merrer M, Davin JC, Wittamer P, Abrassart C, Bricteux G, Briard ML. Verloes A, et al. J Med Genet. 1992 Apr;29(4):262-5. doi: 10.1136/jmg.29.4.262. J Med Genet. 1992. PMID: 1583649 Free PMC article. Review.
We report three new isolated cases of orocraniodigital syndrome (Juberg-Hayward syndrome). The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip/palate, hypertelorism, bowed and upward …
We report three new isolated cases of orocraniodigital syndrome (Juberg-Hayward syndrome). The main clinical fea …
Further case of aminopterin syndrome sine aminopterin in a Spanish child.
Garcia-Minaur S, Botella MP. Garcia-Minaur S, et al. Am J Med Genet. 2000 Dec 11;95(4):320-4. doi: 10.1002/1096-8628(20001211)95:4<320::aid-ajmg5>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11186884 Review.
We report on a Spanish child with clinical manifestations suggestive of aminopterin syndrome sine aminopterin (ASSA), having unusual hair pattern, syndactyly of fingers and toes, low-set thumbs, high-arched palate, and mild developmental delay. However, he does not show ot …
We report on a Spanish child with clinical manifestations suggestive of aminopterin syndrome sine aminopterin (ASSA), having unusual …
[Simple febrile seizure, complex seizure, generalized epilepsy with febrile seizure plus, FIRES and new syndromes].
Moreno de Flagge N. Moreno de Flagge N. Medicina (B Aires). 2013;73 Suppl 1:63-70. Medicina (B Aires). 2013. PMID: 24072053 Free article. Review. Spanish.
It is possible to describe a spectrum according to their severity, from the benign simple seizure to the more complex, febrile seizure plus, Dravet'syndrome, and FIRES. During the past decade, molecular genetic studies have contributed to the identification of genetic fact …
It is possible to describe a spectrum according to their severity, from the benign simple seizure to the more complex, febrile seizure plus, …