University of South Carolina, USA.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):170-5. doi: 10.1002/ajmg.c.30251.
Holoprosencephaly (HPE) and ectrodactyly represent congenital malformations of the developing forebrain and developing digits, respectively. The combination of these conditions is rare, with only 15 cases known to date (12 previously reported, and 3 new cases described here). While the findings in these patients overlap with previously described genetic conditions, the similarity in phenotypes among these patients has led to the establishment of a at least one distinct syndrome: HPE, ectrodactyly, and bilateral cleft lip-palate syndrome (OMIM 300571). There has been great interest in identifying a genetic cause for the findings in patients with HPE and ectrodactyly; however the cause(s) of this rare association still remain unknown.
前脑无裂畸形（HPE）和并指分别代表了胚胎前脑和发育中手指的先天性畸形。这两种情况的组合很少见，目前仅已知 15 例（12 例以前报道过，这里描述了 3 例新病例）。虽然这些患者的发现与以前描述的遗传情况重叠，但这些患者的表型相似导致了至少一种独特综合征的建立：HPE、并指和双侧唇腭裂综合征（OMIM 300571）。人们对确定 HPE 和并指患者发现的遗传原因非常感兴趣；然而，这种罕见关联的原因仍不清楚。
