Coletă Elena, Siminel Mirela, Gheonea Mihaela
Department of Neonatology, University of Medicine and Pharmacy of Craiova, Romania.
Rom J Morphol Embryol. 2011;52(2):725-8.
Holoprosencephaly (HPE) sequence is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain into distinct lateral cerebral hemisphere. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. A subtype of HPE called middle inter-hemispheric variant (MIHF) has been also reported. The etiology is heterogeneous: teratogens, chromosomal abnormalities and single gene mutations can be involved. Holoprosencephaly results in early morbidity and mortality with a reduced survival beyond neonatal period. The disorder is estimated to occur in 1/16,000 live births. This case report presents a male new born diagnosed with holoprosencephaly, accompanied by median cleft palate, absent nasal bones and chromosomal abnormalities.
前脑无裂畸形序列征是一种罕见的脑和面部畸形谱系，由胚胎前脑未完全分裂为不同的左右大脑半球所致。描述了三种严重程度递增的类型：叶状、半叶状和无叶状前脑无裂畸形。还报道了一种称为中间半球间变异型（MIHF）的前脑无裂畸形亚型。病因是多方面的：致畸剂、染色体异常和单基因突变都可能与之相关。前脑无裂畸形会导致早期发病和死亡，新生儿期后的存活率降低。据估计，该疾病在活产婴儿中的发病率为1/16,000。本病例报告介绍了一名被诊断为前脑无裂畸形的男婴，伴有正中腭裂、鼻骨缺失和染色体异常。
