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Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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The Afro-Arabian Paleogene fossil record of Chiroptera is very poor. In North Africa and Arabia, this record is limited, thus far, to a few localities mainly in Tunisia (Chambi, late early Eocene), Egypt (Fayum, late Eocene to early Oligocene), and Sultanate of Oman (Taqah, early Oligocene). It consists primarily of isolated teeth or mandible fragments. Interestingly, these African fossil bats document two modern groups (Vespertilionoidea and Rhinolophoidea) from the early Eocene, while the bat fossil record of the same epoch of North America, Eurasia, and Australia principally includes members of the ??Eochiroptera.?? This paraphyletic group contains all primitive microbats excluding modern families. In Algeria, the region of Brezina, southeast of the Atlas Mountains, is famous for the early Eocene El Kohol Formation, which has yielded one of the earliest mammalian faunas of the African landmass. Recent fieldwork in the same area has led to the discovery of a new vertebrate locality, including isolated teeth of Chiroptera. These fossils represent the oldest occurrence of Chiroptera in Africa, thus extending back the record of the group to the middle early Eocene (Ypresian) on that continent. The material consists of an upper molar and two fragments of lower molars. The dental character association matches that of ??Eochiroptera.?? As such, although very fragmentary, the material testifies to the first occurrence of ??Eochiroptera?? in Algeria, and by extension in Africa. This discovery demonstrates that this basal group of Chiroptera had a worldwide distribution during the early Paleogene.  相似文献   
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Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel–Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, bilateral multicystic kidneys, enlarged bladder and urethral atresia. The fetal chromosome analysis showed a maternally inherited unbalanced translocation between the short arm of chromosome 1 and the long arm of chromosome 14, resulting in 1p35-pter deletion and 14q32-qter duplication (46,XY,der(1),t(1;14)(p35;q32)). Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele. Copyright © 2007 John Wiley & Sons, Ltd.  相似文献   
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