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Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review
Author(s) -
Vilain Catheline,
Mortier Geert,
Van Vliet Guy,
Dubourg Christèle,
Heinrichs Claudine,
de Silva Deephti,
Verloes Alain,
Baumann Clarisse
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32678
Subject(s) - ectrodactyly , holoprosencephaly , medicine , ectodermal dysplasia , hypoplasia , pediatrics , anatomy , dermatology , fetus , pregnancy , biology , genetics
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. © 2009 Wiley‐Liss, Inc.