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Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH , TGIF , SIX3 , GLI2 , TP73L , and DHCR7 as candidate genes
Author(s) -
ZechiCeide Roseli Maria,
Ribeiro Lucilene Arilho,
Raskin Salmo,
Bertolacini Claudia Danielli Pereira,
GuionAlmeida Maria Leine,
RichieriCosta Antonio
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.32844
Subject(s) - ectrodactyly , holoprosencephaly , gli2 , medicine , dermatology , gene , genetics , biology , pregnancy , fetus , sonic hedgehog , ectodermal dysplasia
We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft of lip and palate, and severe mental retardation. The karyotype was normal and the screening for mutations in the genes SHH , TGIF , SIX3 , GLI2 , TP73L , and DHCR7 did not show any change. This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed. © 2009 Wiley‐Liss, Inc.