Gawrych Elzbieta, Janiszewska-Olszowska Joanna, Walecka Anna, Syryńska Maria, Chojnacka Hanna
Department of Child Surgery, Pomeranian Medical University of Szczecin, Poland.
Cleft Palate Craniofac J. 2009 Sep;46(5):549-54. doi: 10.1597/08-059.1. Epub 2009 Mar 2.
Holoprosencephaly is a congenital abnormality of the prosencephalon associated with median facial defects. Its frequency is 1 in 250 pregnancies and 1 in 16,000 live births. The degree of facial deformity usually correlates with the severity of brain malformation. Early mortality is prevalent in severe forms. This report presents a child with lobar holoprosencephaly accompanied by median cleft lip and palate. The treatment and 9 months' follow-up are presented. This unique case shows that holoprosencephaly may present different manifestations of craniofacial malformations, which are not always parallel to the severity of brain abnormalities. Patients with mild to moderate brain abnormalities may survive into childhood and beyond.
前脑无裂畸形是一种与面部正中缺陷相关的前脑先天性异常。其发生率为每250次妊娠中有1例，每16000例活产中有1例。面部畸形程度通常与脑畸形的严重程度相关。严重类型中早期死亡率很高。本报告介绍了一名患有叶状前脑无裂畸形并伴有唇腭裂的儿童。文中还介绍了其治疗情况及9个月的随访结果。这一独特病例表明，前脑无裂畸形可能呈现不同的颅面畸形表现，并不总是与脑异常的严重程度平行。轻度至中度脑异常的患者可能存活至儿童期及以后。
