Holoprosencephaly (HPE) is a heterogeneous disorder with variable expressivity and reduced penetrance. The causes vary from environmental factors to pure genetic forms, namely chromosomal and genomic abnormalities in up to 70% of the cases, and heterozygous mutations in at least four major genes in 17% of cases. We describe rare clinical findings, like craniovertebral hinge dysplasia, Hirschsprung’s disease and syringomyelia as part of the Currarino syndrome spectrum.
Holoprosencephaly: report of four cases and genotype-phenotype correlations / Lami, Francesca; Carli, D; Ferrari, P; Marini, M; Alesi, V; Iughetti, Lorenzo; Percesepe, Antonio. - In: JOURNAL OF GENETICS. - ISSN 0022-1333. - STAMPA. - 92:1(2013), pp. 97-101. [10.1007/s12041-013-0215-5]
Holoprosencephaly: report of four cases and genotype-phenotype correlations.
LAMI, Francesca;IUGHETTI, Lorenzo;PERCESEPE, Antonio
2013
Abstract
Holoprosencephaly (HPE) is a heterogeneous disorder with variable expressivity and reduced penetrance. The causes vary from environmental factors to pure genetic forms, namely chromosomal and genomic abnormalities in up to 70% of the cases, and heterozygous mutations in at least four major genes in 17% of cases. We describe rare clinical findings, like craniovertebral hinge dysplasia, Hirschsprung’s disease and syringomyelia as part of the Currarino syndrome spectrum.
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