Publication
Title
Hartsfield holoprosencephalyectrodactyly syndrome in five male patients : further delineation and review
Author
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 ectrodactylyectodermal dysplasia-clefting syndrome is suspected.
Language
English
Source (journal)
American journal of medical genetics : part A. - Bognor Regis, 2003, currens
Publication
Bognor Regis : 2009
ISSN
1552-4825 [print]
1552-4833 [online]
Volume/pages
149:7(2009), p. 1476-1481
ISI
000267770000016
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 30.05.2012
Last edited 01.11.2017