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Erschienen in: Pediatric and Developmental Pathology 6/2004

01.12.2004 | Original Article

Subclassification of Anencephalic Human Fetuses According to Morphology of the Posterior Cranial Fossa

verfasst von: Jens Fog Lomholt, Birgit Fischer-Hansen, Jean W. Keeling, Ingermarie Reintoft, Inger Kjær

Erschienen in: Pediatric and Developmental Pathology | Ausgabe 6/2004

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Abstract

Anencephaly is a designation for congenital absence of the cranial vault with cerebral hemispheres completely missing or decreased to small masses attached to the base of the skull. The etiology is unknown. Whether the bony tissue or soft brain tissue is a primary factor is also unknown. The present study has focused on the posterior cranial fossa in anencephaly. The goal is to determine whether differences in the posterior cranial fossa could provide a basis for subclassification of anencephalic fetal skeletons. Twenty-three human anencephalic fetuses, at gestational ages 13 to 22 weeks, were studied. Radiologic and cephalometric analyses, including measurements of bone sizes and different angles, were performed. Permission for autopsy of the central nervous system was not available. For comparison of anencephalic findings with normal conditions, standards from a recent publication were used. Foot length served as a parameter for age comparison. The study showed 2 morphologic types of the posterior cranial fossa. One type had a fossa cranial morphology close to normal morphology, whereas the other had a malformed and much smaller posterior cranial fossa. The latter condition was presumed to be due to a primary error in chondral and cranial development. The current skeletal subgrouping might be essential for clinicians’ or pathologists’ future assessment of the autopsy results. The skeletal subgrouping should, if possible, be associated with karyotyping and analysis of the central nervous system. The goal is to distinguish between congenital conditions resulting in anencephaly and acquired conditions resulting in anencephaly.
Literatur
1.
Zurück zum Zitat Chen, CP, Chern, SR, Lee, CC, Chen, WL, Wang, W 2001Prenatal diagnosis of mosaic ring chromosome 13 with anencephalyPrenat Diagn21102195CrossRefPubMed Chen, CP, Chern, SR, Lee, CC, Chen, WL, Wang, W 2001Prenatal diagnosis of mosaic ring chromosome 13 with anencephalyPrenat Diagn21102195CrossRefPubMed
2.
Zurück zum Zitat Hahm, GK, Barth, R, Schauer, GM, Reiss, R, Opitz, JM 1999Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactylyAm J Med Gen874548CrossRef Hahm, GK, Barth, R, Schauer, GM, Reiss, R, Opitz, JM 1999Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactylyAm J Med Gen874548CrossRef
3.
Zurück zum Zitat Lemire, RJ, Beckwith, JB, Warkany, J 1978AnencephalyRaven PressNew York Lemire, RJ, Beckwith, JB, Warkany, J 1978AnencephalyRaven PressNew York
4.
Zurück zum Zitat Goulding, MD, Lumsden, A, Gruss, P 1993Signals from the notochord floor plate regulate the region-specific expression of two Pax genes in the developing spinal cordDevelopment11710011016PubMed Goulding, MD, Lumsden, A, Gruss, P 1993Signals from the notochord floor plate regulate the region-specific expression of two Pax genes in the developing spinal cordDevelopment11710011016PubMed
5.
Zurück zum Zitat Greene, ND, Gerrelli, D, Straaten, HW, Copp, AJ 1998Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defectsMech Dev735972CrossRefPubMed Greene, ND, Gerrelli, D, Straaten, HW, Copp, AJ 1998Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defectsMech Dev735972CrossRefPubMed
6.
Zurück zum Zitat Altmann, CR, Brivanlou, AH 2001Neural patterning in the vertebrate embryoInt Rev Cytol203447482PubMedCrossRef Altmann, CR, Brivanlou, AH 2001Neural patterning in the vertebrate embryoInt Rev Cytol203447482PubMedCrossRef
7.
Zurück zum Zitat Muller, F, O’Rahilly, R 1991Development of anencephaly and its variantsAm J Anat190193218PubMed Muller, F, O’Rahilly, R 1991Development of anencephaly and its variantsAm J Anat190193218PubMed
8.
Zurück zum Zitat Kjær, I 1990Ossification of the human fetal basis craniumJ Craniofac Genet Dev Biol102938PubMed Kjær, I 1990Ossification of the human fetal basis craniumJ Craniofac Genet Dev Biol102938PubMed
9.
Zurück zum Zitat Kjær, I, Fisher-Hansen, B 1995Human fetal pituitary gland in holoprosencephaly and anencephalyJ Craniofac Genet Dev Biol15222229PubMed Kjær, I, Fisher-Hansen, B 1995Human fetal pituitary gland in holoprosencephaly and anencephalyJ Craniofac Genet Dev Biol15222229PubMed
10.
Zurück zum Zitat Siebert, JR, Kokich, VG, Warkany, J, Lemire, RJ 1987Atelencephalic microcephaly: Craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephalyTeratology36279285PubMed Siebert, JR, Kokich, VG, Warkany, J, Lemire, RJ 1987Atelencephalic microcephaly: Craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephalyTeratology36279285PubMed
11.
Zurück zum Zitat Kjær, I, Keeling, JW, Graæm, N 1994Cranial base and vertebral column in human anencephalic fetusesJ Craniofac Genet Dev Biol14235244PubMed Kjær, I, Keeling, JW, Graæm, N 1994Cranial base and vertebral column in human anencephalic fetusesJ Craniofac Genet Dev Biol14235244PubMed
12.
Zurück zum Zitat Chaurasia, BD 1984Calvarial defect in human anencephalyTeratology29165172PubMed Chaurasia, BD 1984Calvarial defect in human anencephalyTeratology29165172PubMed
13.
Zurück zum Zitat Garol, JD, Fields, HW,Jr, Mentzner, L, Kokich, VG 1978The craniofacial skeleton in anencephalic human fetuses II. CalvariumTeratology176474 Garol, JD, Fields, HW,Jr, Mentzner, L, Kokich, VG 1978The craniofacial skeleton in anencephalic human fetuses II. CalvariumTeratology176474
14.
Zurück zum Zitat Lomholt, JF, Nolting, D, Hansen, BF, Stoltze, K, Kjær, I 2003The pre-natal development and osseous growth of the human cerebellar fieldOrthod Craniofacial Res6143154CrossRef Lomholt, JF, Nolting, D, Hansen, BF, Stoltze, K, Kjær, I 2003The pre-natal development and osseous growth of the human cerebellar fieldOrthod Craniofacial Res6143154CrossRef
15.
Zurück zum Zitat Lomholt, FJ, Keeling, JW, Hansen, BF, Ono, T, Stoltze, K, Kjær, I 2003The prenatal development of the human cerebellar field in Down syndromeOrthod Craniofac Res6220226CrossRefPubMed Lomholt, FJ, Keeling, JW, Hansen, BF, Ono, T, Stoltze, K, Kjær, I 2003The prenatal development of the human cerebellar field in Down syndromeOrthod Craniofac Res6220226CrossRefPubMed
16.
Zurück zum Zitat Eynde, B, Kjær, I, Solow, B, Graem, N, Kjær, T, Mathiesen, M 1992Cranial base angulation in human fetusesJ Craniofac Genet Dev Biol122232PubMed Eynde, B, Kjær, I, Solow, B, Graem, N, Kjær, T, Mathiesen, M 1992Cranial base angulation in human fetusesJ Craniofac Genet Dev Biol122232PubMed
17.
Zurück zum Zitat Croft, MS, Desai, G, Seed, PT, Pollard, JI, Perry, ME 1999Application of obstetric ultrasound to determine the most suitable parameters for the aging of formalin-fixed human fetuses using manual measurementsClin Anat128493PubMed Croft, MS, Desai, G, Seed, PT, Pollard, JI, Perry, ME 1999Application of obstetric ultrasound to determine the most suitable parameters for the aging of formalin-fixed human fetuses using manual measurementsClin Anat128493PubMed
18.
Zurück zum Zitat Marín-Padilla, M 1991Cephalic axial skeletal–neural dysraphic disorders: embryology and pathologyCan J Neurol Sci18153169PubMed Marín-Padilla, M 1991Cephalic axial skeletal–neural dysraphic disorders: embryology and pathologyCan J Neurol Sci18153169PubMed
19.
Zurück zum Zitat Huggare, J, Kantomaa, T, Serlo, W, Ronning, O 1989Craniofacial morphology in untreated shunt-treated hydrocephalic childrenActa Neurochir (Wien)97107110 Huggare, J, Kantomaa, T, Serlo, W, Ronning, O 1989Craniofacial morphology in untreated shunt-treated hydrocephalic childrenActa Neurochir (Wien)97107110
20.
Zurück zum Zitat Kantomaa, T, Huggare, J, Ronning, O 1987Wendt Lv.Cranial base morphology in untreated hydrocephalicsChild Nerv Syst3222224CrossRef Kantomaa, T, Huggare, J, Ronning, O 1987Wendt Lv.Cranial base morphology in untreated hydrocephalicsChild Nerv Syst3222224CrossRef
21.
Zurück zum Zitat Weissman, A, Diukman, R, Auslender, R 1997Fetal acrania: five new cases and review of the literatureJ Clin Ultrasound25511514CrossRefPubMed Weissman, A, Diukman, R, Auslender, R 1997Fetal acrania: five new cases and review of the literatureJ Clin Ultrasound25511514CrossRefPubMed
22.
Zurück zum Zitat Bell, JE, Green, RJL 1982Studies on the area cerebrovasculosa of anencephalic fetusesJ Pathol137315328PubMed Bell, JE, Green, RJL 1982Studies on the area cerebrovasculosa of anencephalic fetusesJ Pathol137315328PubMed
23.
Zurück zum Zitat Vukelić, Ž, Metelmann, W, Mühting, J, Kos, M, Katalinić, P 2001Anencephaly: structural characterization of gangliosides in defined brain regionsBiol Chem382259274CrossRefPubMed Vukelić, Ž, Metelmann, W, Mühting, J, Kos, M, Katalinić, P 2001Anencephaly: structural characterization of gangliosides in defined brain regionsBiol Chem382259274CrossRefPubMed
24.
Zurück zum Zitat Ganchrow, D, Ornoy, A 1979Possible evidence for secondary degeneration of central nervous system in the pathogenesis of anencephaly and brain dysraphia. A study in young human fetusesVirchows Arch A Pathol Anat Histol384285294CrossRefPubMed Ganchrow, D, Ornoy, A 1979Possible evidence for secondary degeneration of central nervous system in the pathogenesis of anencephaly and brain dysraphia. A study in young human fetusesVirchows Arch A Pathol Anat Histol384285294CrossRefPubMed
Metadaten
Titel
Subclassification of Anencephalic Human Fetuses According to Morphology of the Posterior Cranial Fossa
verfasst von
Jens Fog Lomholt
Birgit Fischer-Hansen
Jean W. Keeling
Ingermarie Reintoft
Inger Kjær
Publikationsdatum
01.12.2004
Erschienen in
Pediatric and Developmental Pathology / Ausgabe 6/2004
Print ISSN: 1093-5266
Elektronische ISSN: 1615-5742
DOI
https://doi.org/10.1007/s10024-004-9098-z

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