Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. - Archive ouverte HAL Access content directly
Journal Articles American Journal of Medical Genetics Part A Year : 2009

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.

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Abstract

We report on five male subjects with a triad of signs compatible with Hartsfield syndrome: ectrodactyly, holoprosencephaly, and mental retardation. Only six patients with this distinctive association have been reported over the past 20 years, all of them being males. Of the patients described here, some have unreported findings such as vermian hypoplasia in one and prolonged survival into adulthood in two. Two patients developed central diabetes insipidus. All were mentally retarded. No abnormalities were found at the cytogenetic level, including array CGH in two. No known genes for holoprosencephaly or ectrodactyly were found, including GLI2. The cause of Hartsfield syndrome is unknown. An X-linked defect is possible, although no recurrences have been described to date. Our observations almost double the number of cases. They underscore the usefulness of fetal brain imaging in the differential diagnosis of syndromal clefting diagnosed in utero, particularly when ectrodactyly-ectodermal dysplasia-clefting syndrome is suspected.
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Dates and versions

inserm-00405633 , version 1 (17-11-2011)

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Catheline Vilain, Geert Mortier, Guy van Vliet, Christèle Dubourg, Claudine Heinrichs, et al.. Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.. American Journal of Medical Genetics Part A, 2009, 149A (7), pp.1476-81. ⟨10.1002/ajmg.a.32678⟩. ⟨inserm-00405633⟩
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