Picone O, Hirt R, Suarez B, Coulomb A, Tachdjian G, Frydman R, Senat M-V
Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, Clamart, Assistance Publique des Hopitaux de Paris (AP-HP), Université Paris XI, Paris, France.
Ultrasound Obstet Gynecol. 2006 Aug;28(2):229-31. doi: 10.1002/uog.2851.
A peculiar subtype of holoprosencephaly, middle interhemispheric variant (MIH), which is characterized by a partial posterior interhemispheric fusion of the brain, has been described in children. We describe the features of a case of a possible new MIH at 26 weeks of gestation, diagnosed using prenatal sonography and magnetic resonance imaging and confirmed by postmortem examination. This malformation of the brain was associated with an unusual appearance of the corpus callosum and rare chromosomal abnormality: a 45X/46,XX/47,XX,+ 18 mosaicism.
脑中线发育不全是一种特殊的全前脑畸形亚型，其特征为大脑半球间部分后部融合，多见于儿童。本文报道了一例孕26周时可能为新型脑中线发育不全的病例，通过产前超声检查和磁共振成像诊断，并经尸检证实。该脑畸形与胼胝体外观异常及罕见的染色体异常有关：45X/46,XX/47,XX,+18嵌合体。
