Department of Clinical Genetics, Hospital de Reabilitação de Anornalias Craniofaciais, Universidade de São Paulo, Bauro, S.P., Brazil.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):149-57. doi: 10.1002/ajmg.c.30247.
Here we report on the clinical and genetic data for a large sample of Brazilian patients studied at the Hospital de Reabilitação de Anomalas Craniofaciais-Universidade de São Paulo (HRAC-USP) who presented with either the classic holoprosencephaly or the holoprosencephaly-like (HPE-L) phenotype. The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center. The HPE-L phenotype has been also called of HPE "minor forms" or "microforms." The variable phenotype, the challenge of genetic counseling, and the similarities to patients with isolated cleft lip/palate are discussed.
我们在此报告了在圣保罗大学颅面畸形康复医院（HRAC-USP）接受治疗的巴西患者的临床和遗传数据，这些患者表现出典型的全前脑或全前脑样（HPE-L）表型。该样本包括一些 HPE 决定基因（如 SHH、GLI2、SIX3、TGIF 和 PTCH）无检测到突变的患者，以及我们中心之前报道的患者的照片记录。HPE-L 表型也被称为 HPE 的“次要形式”或“微形式”。我们讨论了可变的表型、遗传咨询的挑战以及与孤立的唇裂/腭裂患者的相似性。
