title: Anencephaly and limb deficiencies.
abstract: Limb deficiencies (LDs) are rarely reported in anencephalic infants. A review of 662 patients in the literature on non-neural defects in anencephaly only showed five patients with LDs. We report on eight patients with various LDs from the records of 141 necropsies of the anencephalic infants found among 495,830 births. Compared with another group of anencephalic infants reported in the literature, the patients in this group of anencephalic infants with LDs were predominantly male, their mean gestational age was younger by approximately 5 weeks, their mean birth-weight was approximately 1,400 g less, and they presented with a higher incidence of polyhydramnios during gestational development. The association of this pair of anomalies, which was 100 times more frequent than expected, seems not due to chance. Since all eight patients had other multiple congenital anomalies (MCA), in addition to anencephaly and LDs, the postmortem study should be mandatory in anencephalic infants with LDs. The most common associated anomalies were cardiovascular and renal defects. Oral clefts, diaphragmatic hernia, esophageal atresia, and imperforate anus were also observed in these infants. The recognition of LDs in anencephalic infants indicates severe and extensive disturbance of the early embryogenesis (blastogenesis), which affects the midline of the embryo.
authors.affiliation: Department of Pathology, La Paz Hospital, Madrid, Spain.
authors.forename: J I
authors.initials: JI
authors.lastname: Rodríguez
authors.forename: J L
authors.initials: JL
authors.lastname: Rodríguez-Peralto
authors.forename: M
authors.initials: M
authors.lastname: Muro
authors.forename: M
authors.initials: M
authors.lastname: Urioste
authors.forename: J
authors.initials: J
authors.lastname: Palacios
mesh_terms: D000757:Anencephaly / Q000235:genetics*; D001724:Birth Weight; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D011336:Probability