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Title: Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
Authors: Passos-Bueno, M. R.
Armelin, L. M.
Alonso, L. G.
Neustein, I
Sertie, A. L.
Abe, K.
Pavanello, R. D.
Elkis, L. C.
Koiffmann, C. P.
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Hosp Serv Publ Estadual São Paulo
Keywords: craniosynostosis
autosomal dominant inheritance
ophthalmological problems
distal limb malformations
Issue Date: 22-Nov-2002
Publisher: Wiley-Blackwell
Citation: American Journal of Medical Genetics. New York: Wiley-liss, v. 113, n. 2, p. 200-206, 2002.
Abstract: Craniosynostosis caused by genetic factors includes a heterogeneous group of over 100 syndromes, most with autosomal dominant inheritance. Mutations in five genes (FGFR1-, -2, -3, TWIST, and MSX2) causing craniosynostosis as the main clinical feature were described. in most of these conditions, there are also limb malformations. We report a two-generation kindred segregating microcornea, optic nerve alterations and cataract since childhood, craniosynostosis, and distal limb alterations, with a great clinical intra-familial variability. the ophthalmological problems here described seem to be unique to this genealogy while similar feet alterations were apparently only described in two other affected siblings with acro-cranial-facial dysostosis syndrome (ADS). However, ADS has an autosomal recessive inheritance instead of the dominant pattern of the present genealogy. the candidate exons of the five genes previously mentioned were tested through sequencing analysis presenting normal results in all cases. Therefore, clinical and laboratory analyses in our patients suggest that their phenotype represents a new syndrome very likely caused by mutation in a gene different from those studied. (C) 2002 Wiley-Liss, Inc.
ISSN: 0148-7299
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