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Marco Castori - One of the best experts on this subject based on the ideXlab platform.
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Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
American Journal of Medical Genetics Part A, 2008Co-Authors: Marco Castori, Rosanna Rinaldi, S Cappellacci, Paola GrammaticoAbstract:VACTERL association is one of the most common recognizable patterns of human malformation and has been recently defined as a multiple polytopic developmental field defect. Limb anomalies are a key component of this condition and characteristically reflect perturbation of radial ray development. However, the pattern of appendicular malformations in VACTERL association is wider and includes a broad spectrum of additional and apparently nonspecific anomalies. We report on the sporadic case of a 4-10/12-year-old boy presenting with multiple costovertebral defects, dextrocardia, bilateral radial ray hypo/aplasia, unilateral Kidney Agenesis and anal atresia. Homolaterally to the more severe radial ray defect and Kidney aplasia, he also has a complex lower limb malformation, consisting of distal tibial aplasia, clubfoot, hallucal deficiency and preaxial polydactyly. Literature review identifies 24 additional patients with VACTERL manifestations and lower limb malformations (excluding cases with isolated secondary deformations). Tibial hypo/aplasia with or without additional tibial field defects, reported in about 2/3 (68%) of the patients, represents the most common finding, while involvement of the fibular ray is rare (20%) and very often accompanies tibial anomalies. The relatively high frequency of tibial ray anomalies in VACTERL patients could easily be explained by the principle of homology of the developmental field theory. Careful search of lower limb anomalies of the "tibial type" is, therefore, indicated in all patients with multiple polytopic developmental field defects.
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Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
American journal of medical genetics. Part A, 2006Co-Authors: Marco Castori, Rosanna Rinaldi, Paola Grammatico, Francesco Brancati, Loredana Adami, Rita Mingarelli, Bruno DallapiccolaAbstract:We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34–35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and Kidney Agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition. © 2006 Wiley-Liss, Inc.
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Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)
American Journal of Medical Genetics Part A, 2006Co-Authors: Marco Castori, Rosanna Rinaldi, Paola Grammatico, Francesco Brancati, Loredana Adami, Rita Mingarelli, Bruno DallapiccolaAbstract:We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34-35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and Kidney Agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition
Paola Grammatico - One of the best experts on this subject based on the ideXlab platform.
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Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
American Journal of Medical Genetics Part A, 2008Co-Authors: Marco Castori, Rosanna Rinaldi, S Cappellacci, Paola GrammaticoAbstract:VACTERL association is one of the most common recognizable patterns of human malformation and has been recently defined as a multiple polytopic developmental field defect. Limb anomalies are a key component of this condition and characteristically reflect perturbation of radial ray development. However, the pattern of appendicular malformations in VACTERL association is wider and includes a broad spectrum of additional and apparently nonspecific anomalies. We report on the sporadic case of a 4-10/12-year-old boy presenting with multiple costovertebral defects, dextrocardia, bilateral radial ray hypo/aplasia, unilateral Kidney Agenesis and anal atresia. Homolaterally to the more severe radial ray defect and Kidney aplasia, he also has a complex lower limb malformation, consisting of distal tibial aplasia, clubfoot, hallucal deficiency and preaxial polydactyly. Literature review identifies 24 additional patients with VACTERL manifestations and lower limb malformations (excluding cases with isolated secondary deformations). Tibial hypo/aplasia with or without additional tibial field defects, reported in about 2/3 (68%) of the patients, represents the most common finding, while involvement of the fibular ray is rare (20%) and very often accompanies tibial anomalies. The relatively high frequency of tibial ray anomalies in VACTERL patients could easily be explained by the principle of homology of the developmental field theory. Careful search of lower limb anomalies of the "tibial type" is, therefore, indicated in all patients with multiple polytopic developmental field defects.
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Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
American journal of medical genetics. Part A, 2006Co-Authors: Marco Castori, Rosanna Rinaldi, Paola Grammatico, Francesco Brancati, Loredana Adami, Rita Mingarelli, Bruno DallapiccolaAbstract:We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34–35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and Kidney Agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition. © 2006 Wiley-Liss, Inc.
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Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)
American Journal of Medical Genetics Part A, 2006Co-Authors: Marco Castori, Rosanna Rinaldi, Paola Grammatico, Francesco Brancati, Loredana Adami, Rita Mingarelli, Bruno DallapiccolaAbstract:We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34-35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and Kidney Agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition
Bruno Dallapiccola - One of the best experts on this subject based on the ideXlab platform.
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Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
American journal of medical genetics. Part A, 2006Co-Authors: Marco Castori, Rosanna Rinaldi, Paola Grammatico, Francesco Brancati, Loredana Adami, Rita Mingarelli, Bruno DallapiccolaAbstract:We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34–35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and Kidney Agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition. © 2006 Wiley-Liss, Inc.
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Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)
American Journal of Medical Genetics Part A, 2006Co-Authors: Marco Castori, Rosanna Rinaldi, Paola Grammatico, Francesco Brancati, Loredana Adami, Rita Mingarelli, Bruno DallapiccolaAbstract:We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34-35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and Kidney Agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition
Akira Sato - One of the best experts on this subject based on the ideXlab platform.
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the murine homolog of sall4 a causative gene in okihiro syndrome is essential for embryonic stem cell proliferation and cooperates with sall1 in anorectal heart brain and Kidney development
Development, 2006Co-Authors: Masayo Sakakiyumoto, Sayoko Fujimura, Akira Sato, Yuko Matsumoto, Makoto Asashima, Hiroyuki Aburatani, Chiyoko Kobayashi, Minoru Takasato, Tatsuhiko Kodama, Nobuaki YoshidaAbstract:Mutations in SALL4, the human homolog of the Drosophila homeotic gene spalt (sal), cause the autosomal dominant disorder known as Okihiro syndrome. In this study, we show that a targeted null mutation in the mouse Sall4 gene leads to lethality during peri-implantation. Growth of the inner cell mass from the knockout blastocysts was reduced, and Sall4-null embryonic stem (ES) cells proliferated poorly with no aberrant differentiation. Furthermore, we demonstrated that anorectal and heart anomalies in Okihiro syndrome are caused by Sall4 haploinsufficiency and that Sall4/Sall1 heterozygotes exhibited an increased incidence of anorectal and heart anomalies, exencephaly and Kidney Agenesis. Sall4 and Sall1 formed heterodimers, and a truncated Sall1 caused mislocalization of Sall4 in the heterochromatin; thus, some symptoms of Townes-Brocks syndrome caused by SALL1 truncations could result from SALL4 inhibition.
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Sall1, a causative gene for Townes–Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin
Biochemical and biophysical research communications, 2004Co-Authors: Akira Sato, Tatsuhiko Kodama, Shosei Kishida, Toshiya Tanaka, Akira Kikuchi, Makoto AsashimaAbstract:The Spalt (sal) gene family plays an important role in regulating developmental processes of many organisms. Mutations of human SALL1 cause the autosomal dominant disorder, Townes–Brocks syndrome (TBS), and result in ear, limb, anal, renal, and heart anomalies. Targeted deletion of mouse Sall1 results in Kidney Agenesis or severe dysgenesis. Molecular mechanisms of Sall1, however, have remained largely unknown. Here we report that Sall1 synergistically activates canonical Wnt signaling. The transcriptional activity of Sall1 is related to its nuclear localization to punctate nuclear foci (pericentromeric heterochromatin), but not to its localization or association with β-catenin, the nuclear component of Wnt signaling. In contrast, the RNA interference of Sall1 reduces reporter activities of canonical Wnt signaling. The N-terminal truncated Sall1, produced by mutations often found in TBS, disturbs localization of native Sall1 to heterochromatin, and also down-regulates the synergistic transcriptional enhancement for Wnt signal by native Sall1. Thus, we propose a new mechanism for Wnt signaling activation, that is the heterochromatin localization of Sall1.
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sall1 a causative gene for townes brocks syndrome enhances the canonical wnt signaling by localizing to heterochromatin
Biochemical and Biophysical Research Communications, 2004Co-Authors: Akira Sato, Tatsuhiko Kodama, Shosei Kishida, Toshiya Tanaka, Akira Kikuchi, Makoto AsashimaAbstract:The Spalt (sal) gene family plays an important role in regulating developmental processes of many organisms. Mutations of human SALL1 cause the autosomal dominant disorder, Townes–Brocks syndrome (TBS), and result in ear, limb, anal, renal, and heart anomalies. Targeted deletion of mouse Sall1 results in Kidney Agenesis or severe dysgenesis. Molecular mechanisms of Sall1, however, have remained largely unknown. Here we report that Sall1 synergistically activates canonical Wnt signaling. The transcriptional activity of Sall1 is related to its nuclear localization to punctate nuclear foci (pericentromeric heterochromatin), but not to its localization or association with β-catenin, the nuclear component of Wnt signaling. In contrast, the RNA interference of Sall1 reduces reporter activities of canonical Wnt signaling. The N-terminal truncated Sall1, produced by mutations often found in TBS, disturbs localization of native Sall1 to heterochromatin, and also down-regulates the synergistic transcriptional enhancement for Wnt signal by native Sall1. Thus, we propose a new mechanism for Wnt signaling activation, that is the heterochromatin localization of Sall1.
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Murine homolog of SALL1 is essential for ureteric bud invasion in Kidney development.
Development (Cambridge England), 2001Co-Authors: Ryuichi Nishinakamura, Akira Sato, Yuko Matsumoto, Kazuki Nakao, Kenji Nakamura, Neal G. Copeland, Debra J. Gilbert, Nancy A. Jenkins, Sheila Scully, David L. LaceyAbstract:SALL1 is a mammalian homolog of the Drosophila region-specific homeotic gene spalt ( sal ); heterozygous mutations in SALL1 in humans lead to Townes-Brocks syndrome. We have isolated a mouse homolog of SALL1 ( Sall1 ) and found that mice deficient in Sall1 die in the perinatal period and that Kidney Agenesis or severe dysgenesis are present. Sall1 is expressed in the metanephric mesenchyme surrounding ureteric bud; homozygous deletion of Sall1 results in an incomplete ureteric bud outgrowth, a failure of tubule formation in the mesenchyme and an apoptosis of the mesenchyme. This phenotype is likely to be primarily caused by the absence of the inductive signal from the ureter, as the Sall1 -deficient mesenchyme is competent with respect to epithelial differentiation. Sall1 is therefore essential for ureteric bud invasion, the initial key step for metanephros development.
Rosanna Rinaldi - One of the best experts on this subject based on the ideXlab platform.
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Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
American Journal of Medical Genetics Part A, 2008Co-Authors: Marco Castori, Rosanna Rinaldi, S Cappellacci, Paola GrammaticoAbstract:VACTERL association is one of the most common recognizable patterns of human malformation and has been recently defined as a multiple polytopic developmental field defect. Limb anomalies are a key component of this condition and characteristically reflect perturbation of radial ray development. However, the pattern of appendicular malformations in VACTERL association is wider and includes a broad spectrum of additional and apparently nonspecific anomalies. We report on the sporadic case of a 4-10/12-year-old boy presenting with multiple costovertebral defects, dextrocardia, bilateral radial ray hypo/aplasia, unilateral Kidney Agenesis and anal atresia. Homolaterally to the more severe radial ray defect and Kidney aplasia, he also has a complex lower limb malformation, consisting of distal tibial aplasia, clubfoot, hallucal deficiency and preaxial polydactyly. Literature review identifies 24 additional patients with VACTERL manifestations and lower limb malformations (excluding cases with isolated secondary deformations). Tibial hypo/aplasia with or without additional tibial field defects, reported in about 2/3 (68%) of the patients, represents the most common finding, while involvement of the fibular ray is rare (20%) and very often accompanies tibial anomalies. The relatively high frequency of tibial ray anomalies in VACTERL patients could easily be explained by the principle of homology of the developmental field theory. Careful search of lower limb anomalies of the "tibial type" is, therefore, indicated in all patients with multiple polytopic developmental field defects.
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Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
American journal of medical genetics. Part A, 2006Co-Authors: Marco Castori, Rosanna Rinaldi, Paola Grammatico, Francesco Brancati, Loredana Adami, Rita Mingarelli, Bruno DallapiccolaAbstract:We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34–35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and Kidney Agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition. © 2006 Wiley-Liss, Inc.
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Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)
American Journal of Medical Genetics Part A, 2006Co-Authors: Marco Castori, Rosanna Rinaldi, Paola Grammatico, Francesco Brancati, Loredana Adami, Rita Mingarelli, Bruno DallapiccolaAbstract:We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34-35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and Kidney Agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition
