title: [A neonate with aprosopia, monomelia and celosomy].
abstract: The specimen of which it is a matter here takes part of the heritage of the Museum of Anatomy and Embryology of the Faculty of Medicine of the Université Libre de Bruxelles. Its medical history is completely unknown, because it takes part of an ancient collection of pathological anatomy saved from destruction and recovered by the laboratory of Anatomy and Embryology. The specimen is strongly folded up on itself ("in extension"), its length so arranged is about 25 cm; unfolded, it develops to 45 cm. Cranial perimeter is of 31 cm. Unfortunately, the brain was removed during the initial analysis, and only the examination of the braincase allows to draw some conclusions on the probable state of the encephalon. The face is rudimentary, without any orbit, and the oral cavity is limited to a vertical slit, revealing small strongly tipped up maxillary bones. A double proboscis is present. The trunk is characterised by a rather broad celosomy, with exhibition of the intestines, the liver and the pancreas. Anal atresia is observed, and the external sexual organs are hypoplastic and ambiguous. The whole left lower limb is absent, including the left half of the pelvis, corresponding to a left unilateral complete ectromelia. The neck is in hyperextension, so that the occipital region seems extremely welded in the cervical spine. However, CT examination does not confirm the presence of such fusion, but on the other hand, reveals a severe axial diversion of the spine with hyperextension. Extremely rare in humans, the aprosopia is more readily present in some animals (sheep). Its association with a monomelia and a celosomy seems not yet described.
authors.affiliation: Laboratoire d'anatomie, biomécanique et organogenèse, faculté de médecine, université Libre de Bruxelles, route de Lennik 808, 1070 Bruxelles, Belgique. Electronic address: slouryan@ulb.ac.be.
authors.forename: S
authors.initials: S
authors.lastname: Louryan
authors.affiliation: Laboratoire d'anatomie, biomécanique et organogenèse, faculté de médecine, université Libre de Bruxelles, route de Lennik 808, 1070 Bruxelles, Belgique.
authors.forename: N
authors.initials: N
authors.lastname: Vanmuylder
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002102:Cadaver; D004480:Ectromelia / Q000473:pathology*; D005145:Face / Q000002:abnormalities* / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014781:Viscera / Q000002:abnormalities* / Q000473:pathology*
keywords: Abnormal development; Aprosopia; Aprosopie; Celosmy; Célosomie; Développement anormal; Hemimelia; Hémimélie; Neonate; Nouveau-né