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Fryns syndrome survivors and neurologic outcome.
Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG. Van Hove JL, et al. Am J Med Genet. 1995 Nov 20;59(3):334-40. doi: 10.1002/ajmg.1320590311. Am J Med Genet. 1995. PMID: 8599357 Review.
He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long-term outcome of survivors is important for counseling of families with Fryns syndrome. . …
He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond th …
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.
Lemyre E, Lemieux N, Décarie JC, Lambert M. Lemyre E, et al. Am J Med Genet. 1998 May 1;77(2):162-5. Am J Med Genet. 1998. PMID: 9605291 Review.
Skeletal X-rays showed lambdoid craniosynostosis, a very small sella turcica and cervical vertebral anomalies. Brain MRI showed the absence of the optic chiasm, an hypoplastic pituitary gland, and cortical atrophy. ...
Skeletal X-rays showed lambdoid craniosynostosis, a very small sella turcica and cervical vertebral anomalies. Brain MRI showed the absence …