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holoprosencephaly trisomy 13

holoprosencephaly trisomy 13

, editor. Cohen and Gorlin (1991) used the term pseudotrisomy 13 syndrome to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. This site needs JavaScript to work properly. The eyes were fused but contained two developed separate lenses. in 1960, is the third most common trisomy, after trisomies 21 and 18. Although trisomy 13 and trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. Increases in expression of such genes as Pax-2, as well as inhibition of Pax-6, from the notochord have been implicated in normal differentiation of cephalic midline structures. Amongst the chromosome abnormalities, postaxial polydactyly is found only in trisomy 13. A detailed family history should be obtained. Am J Med Genet Part C (Seminars in Medical Genetics). 13 In another series involving 33 fetuses with trisomy 13 scanned in the second and third trimesters, 13 (39%) had holoprosencephaly. Discussion on this severe anomaly, along with the case report with details of Patau's syndrome, is the goal of this report. Holoprosencephaly with postaxial polydactyly and cardiac defects commonly occurs in trisomy 13. The condition is lethal, and the rate of miscarriage or foetal death between 12 and 40 weeks of gestation is approximately 80%. … Additionally, 24% of trisomy 13 fetuses had holoprosencephaly and 10% had exomphalos. Kondisi ini akan membuat bayi terlahir dengan kelainan fisik dan gangguan intelektual.. Dalam kondisi normal, janin akan memiliki 23 pasang kromosom, yakni pembawa genetik yang diturunkan dari orang … We have opted to bbe induced. There is evidence that in some families, HPE is inherited (autosomal dominant as well as autosomal or X-linked recessive inheritance). This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13), … In other children, holoprosencephaly is due to a change in a specific gene. We have studied three chromosomally normal patients with multiple anomalies that include holoprosencephaly and caudal dysplasia. The embryology and implications of holoprosencephaly … [citation needed] Other candidate genes have been located, including the SHH (holoprosencephaly type 3 a.k.a. Capobianco G, Cherchi PL, Ambrosini G, Cosmi E, Andrisani A, Dessole S. Arch Gynecol Obstet. [10][11][12] Features consistent with familial transmission of the disease (e.g., a single central maxillary incisor) should be carefully assessed in parents and family members. [6][14] As well, the disorder is found twice as often in female babies. small eyes, … The most common nonrandom chromosomal abnormality in patients with HPE is trisomy 13. Newborns born with Patau syndrome often have physical abnormalities or intellectual issues. El-Dessouky SH, Aboulghar MM, Gaafar HM, Abdella RM, Sharaf MF, Ateya MI, Elarab AE, Zidan WH, Helal RM, Aboelsaud SM, Eid MM, Abdel-Salam GMH. eCollection 2017. Holoprosencephaly and Trisomy 13 in a Cyclops. trisomy 13 (Patau syndrome), trisomy 21 (Down syndrome), Apert syndrome, Treacher–Collins syndrome, and craniosynostosis (Cohen, 2000). Prenat Diagn. HHS Furthermore, deletions of 13q are associated with oligodactyly and syndactyly, the crucial region being 13q3 1-34 (Lewandowski & Yunis 1977). See this image and copyright information in PMC. The most common major abnormality seen in trisomy 13 is holoprosencephaly, which can be seen as early as 12 weeks of gestation (Figure 129-1). Trisomy 13, which was first described by Patau et al. Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.The extra genetic material disrupts normal development, causing multiple and complex organ defects. HPE is not a condition in which the brain deteriorates over time. Lancet. 2007 May;275(5):385-7. doi: 10.1007/s00404-006-0264-6. congenital renal anomalies; congenital cardiac anomalies; diabetic embryopathy; facial anomalies; Shprintzen syndrome Most cases are not compatible with life and result in fetal death in utero.[1]. Hum Mutat, Learn how and when to remove this template message, "Holoprosencephaly Information Page | National Institute of Neurological Disorders and Stroke", "Genetics of ventral forebrain development and holoprosencephaly", "Patterning the dorsal telencephalon: a role for sonic hedgehog? Many noncraniofacial anomalies may be seen with HPE , the most common being genital defects (24%), postaxial polydactyly (8%), vertebral defects (5%), limb reduction defects (4%), and transposition of the great arteries (4%) ( 27 ). 4th ed. The condition is also referred to as cyclocephaly or synophthalmia, and is very rare. Trisomy 13- When DNA from chromosome 13 is present in all body’s cells. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip. Alobar holoprosencephaly, the most serious form, in which the brain fails to separate, is usually associated with severe facial anomalies, including lack of a nose and the eyes merged to a single median structure (see. 10.1007/978-1-84628-743-5_6 The authors report a case of trisomy 13 syndrome diagnosed at prenatal follow up. In other children, holoprosencephaly … 2001 May;21(5):346-50. doi: 10.1002/pd.63. Mutations in the Sonic Hedgehog gene on chromosome 7 lead to holoprosencephaly. First case to be diagnosed with hysteroscopy: A case report Lalou Iliana1, Gkrozou Fani2*, Eleftherios Meridis 3, Tsonis Orestis , Paschopoulos Minas3 and Syrrou Marika1 Select any item from the right-pane. In other cases, it often seems that there is no specific cause at all. The preterm newborn lived only 5 hours, and died because of severe respiratory failure. Fetal and neonatal pathology. Dit wordt nondisjunctie van de chromosomen genoemd. Holoprosencephaly is an abnormality of brain development in which the brain doesn't properly divide into the right and left hemispheres. Featured. – Alobar holoprosencephaly. – External Examination of the newborn. In some cases, additional abnormalities may also be present, including genital defects; absence of the band of nerve fibers joining the two hemispheres of the brain (agenesis of … Trisomy 13 is associated with severe physical and mental disabilities in addition to poor long-term survival rates in live-born infants. Trisomy 13 mosaicism- When DNA from chromosome 13 is present in some of the cells. The condition also occurs in other species. Some babies with Trisomy 13 will survive the pregnancy and some of … The median cleft lip: The alobar holoprosencephaly with a single ventricle: Reconstructions of the face with a mid-facial hypoplasia, absence of the nose and midline cleft lip. Syntelencephaly, or middle interhemispheric variant of holoprosencephaly (MIHV), in which the posterior, This page was last edited on 5 January 2021, at 07:29. Seizures and intellectual disabilities may occur. Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. – Hypoplastic left heart syndrome. Many babies do not survive past the first month or within the first year.1 Other symptoms include: 1. What is the main difference between barbiturates and benzodiazepines? Typically, seizures that are difficult to control appear soon after birth, requiring more aggressive medication combinations/doses. Each has features found in patients with pseudo-trisomy 13, though each lacks malformations common in that syndrome. The most common major abnormality seen in trisomy 13 is holoprosencephaly, which can be seen as early as 12 weeks of gestation (Figure 129-1). The exact cause(s) of HPE are yet to be determined. Patau syndrome, or Trisomy 13, is the least common of the autosomal trisomies and most severe, after Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18) . Common features of trisomy 13 include holoprosencephaly with midfacial defects (3). 2015 Aug;55(3):161-3. doi: 10.1111/cga.12103. Furthermore, deletions of 13q are associated with oligodactyly and syndactyly, the crucial region being 13q3 1-34 (Lewandowski & Yunis 1977). There is an increased risk for holoprosencephaly in infants born to diabetic mothers. PMCid:2815046 10.1002/ajmg.c.30232 Abstract Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy in newborns. Holoprosencephaly (HPE) is a congenital defect of the brain, median structures, and face resulting from an incomplete cleavage of the primitive brain during early embryogenesis. doi: … An abnormal development of the forebrain, holoprosencephaly, is the most common cranial abnormality in infants with Trisomy 13. -. Most children with HPE are at risk of having elevated blood sodium levels during moderate-severe illnesses, that alter fluid intake/output, even if they have no previous diagnosis of diabetes insipidus or hypernatremia. Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. NIH Amongst the chromosome abnormalities, postaxial polydactyly is found only in trisomy 13. The most common chromosomal abnormality associated with holoprosencephaly was trisomy 13, with exomphalos and megacystis was trisomy 18 and with increased NT was trisomy 21. The autopsy findings disclosed facial, skull, limbs, cardiac, and cerebral malformations. Phadke and Thakur [23] reported prenatal diagnosis of iniencephaly, alobar holoprosencephaly, and cyclopia in a fetus with mosaic trisomy 13. In the United States, most cases of trisomy 13 are detected prenatally, either by genetic screening or ultrasound. Disability is based upon the degree in which the brain is affected. Although serious seizure disorders, autonomic dysfunction, complicated endocrine disorders and other life-threatening conditions may sometimes be associated with HPE, the mere presence of HPE does not mean that these serious problems will occur or develop over time without any previous indication or warning. Am J Obstet Gynecol 194:397–401 described [7]. HPE3), TGIF, ZIC2, SIX3[8] and BOC genes. Cytogenetic studies demonstrated trisomy 13 [47, XY, +13]. The authors report a case of trisomy 13 syndrome diagnosed at prenatal follow up. The fetal karyotype was normal. At the other end of the spectrum are individuals with facial defects which may affect the eyes, nose, and upper lip - and normal or near-normal brain development. More information Holoprosencephaly Patau Syndrome Trisomy 13 Papageorghiou AT, Avgidou K, Spencer K, Nix B, Nicolaides case of holoprosencephaly and trisomy 13, with mater- KH (2006) Sonographic screening for trisomy 13 at 11 to nal early gestational abuse of amphetamine has been 13 + 6 weeks of gestation. Trisomy 13 (Patau’s syndrome) polydactyly The exact cause(s) of HPE are yet to be determined. Diagram depicting the main subdivisions of the embryonic vertebrate brain. Keywords: Hayashi Y, Suzumori N, Sugiura T, Sugiura-Ogasawara M. Congenit Anom (Kyoto). 7 Alobar holoprosencephaly and Trisomy 13 (Patau syndrome) Autopsy and Case Reports 2013; 3(2): 5-10 Figure 2 – Alobar holoprosencephaly. Trisomy 13, first described by Patau in 1960 (1), occurs in 1/5000 of births and is the most severe of the autosomal trisomies (2). We present the first case reported in the Republic of Colombia of associated trisomy 21-holoprosencephaly, one of the few in the world literature. This cross‐talk between skull and brain development has been noted in several other syndromes, e.g. The doctors told us we would have the option of holding and looking at the baby once she was born. Note the alobar holoprosencephaly with a single ventricle, the hypotelorism, the median cleft lip. 2nd ed. A - Top view; B - Bottom view; C - Coronal section; D - Photomicrography of cerebral cortex showing migration defect (200x). Holoprosencephaly consists of a spectrum of defects or malformations of the brain and face. Everly was diagnosed with Alobar Holoprosencephaly & Trisomy 13 when I was around 12 weeks pregnant. In trisomy, individuals have three copies of a chromosome rather than the normal two. Neurological problems such as a small head (microcephaly), failure of the brain to divide into halves during gestation (holoprosencephaly), severe mental d… A - Dilated right atrial appendage, large pulmonary…, Figure 4. In a US study of 57,119 fetuses between 11 weeks 0 days to 13 weeks 6 days gestation, a holoprosencephaly prevalence of one in 1298 was determined . The risk of recurrence for sporadic, non-chromosomal holoprosencephaly is 6%. A…, Figure 4. 2017 Nov 1;28:193. doi: 10.11604/pamj.2017.28.193.11288. Trisomy 13 Holoprosencephaly samantha0307. RESULTS: One or more abnormalities were found in 30 fetuses (91%). We report a new case of a fetus with holoprosencephaly-polydactyly syndrome, also known as pseudo-trisomy 13 syndrome, and no other apparent abnormalities except for septal agenesis of the left lung. The most severe of the facial defects (or anomalies) is cyclopia, an abnormality characterized by the development of a single eye, located in the area normally occupied by the root of the nose, and a missing nose or a nose in the form of a proboscis (a tubular appendage) located above the eye. The preterm newborn lived only 5 hours, and died because of severe respiratory failure. More than 80% of the children born with Trisomy 13 die within the first year. A new trisomic syndrome. – Bronchial tree malformation. Holoprosencephaly, proboscis, anophthalmia, trisomy 13, matUPD14 Introduction Holoprosencephaly (HPE, MIM 236100) is a complex human brain malformation characterised by defects of the mid forebrain and face resulting from incomplete cleavage of the prosencephalon into right and left hemispheres, occurring between the 18th and the 28th day of gestational age. Array CGH confirmed trisomy 13 and molecular analysis recognised matUPD14 in chromosome 14 and region 14q12. Would you like email updates of new search results? Holoprosencephaly arises from incomplete cleavage of the embryonic forebrain. Because holoprosencephaly and polydactyly are features of trisomy 13, Hewitt et al. 2020 Apr;40(5):565-576. doi: 10.1002/pd.5649. Any child with holoprosencephaly deserves a full genetic evaluation so that appropriate genetic counseling and recurrence risks can be given to the families. Moderate to severe defects may cause intellectual disability, spastic quadriparesis, athetoid movements, endocrine disorders, epilepsy and other serious conditions; mild brain defects may only cause learning or behavior problems with few motor impairments. What are the side effects of amantadine therapy for dyskinesia? Common features of trisomy 13 include holoprosencephaly with midfacial defects (3). However, this defect was reported in 27% of 181 fetuses with trisomy 13 at 11–13 weeks of gestation 1. Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents. -. Who is Susannah Cahalan and what was her contribution to neuroscience? Trisomie 13 ontstaat door een fout bij de celdeling. Cohen and Gorlin (1991) used the term pseudotrisomy 13 syndrome to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. In some cases of lobar holoprosencephaly, the patient's brain may be nearly normal. Greater than 90% of fetuses with trisomy 13 have findings detected… Armand Marie Leroi describes the cause of cyclopia as a genetic malfunctioning during the process by which the embryonic brain is divided into two. ... Velzeboer CM, van der Harten JJ. ii. The preterm newborn lived only 5 hours, and died because The most common chromosomal abnormality associated with holoprosencephaly is when there are 3 copies of chromosome 13 (trisomy 13 or Patau syndrome), although a number of other chromosomal changes can also cause holoprosencephaly. Prenat Diagn. Congenital abnormalities: prenatal diagnosis and screening. Trisomy 13 with alobar holoprosencephaly. 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Looking at the baby once she was born materials and METHODS: prenatal US findings in 33 fetuses... ( Patau syndrome ( chromosome 13 is very less but such babies are still.! Month or within the first year.1 other symptoms include: 1 13 are detected prenatally, either by genetic or... W, Lee JN, Chao MC, Chai CY ( 1993 ) Holoprosen- … this is Daughter. Condition can also affect development of the complete set of features found twice as often in female babies and! Mental problems hpe3 ), TGIF, ZIC2, SIX3 [ 8 ] and genes., Guy 's Tower, Guy 's Hospital, London SE1 9RT,.... By fetoscopy seen at 28 weeks take advantage of the forebrain, …! An increased risk for holoprosencephaly and caudal dysplasia is formed and the onset of puberty ; B Bottom., Chen LF, Chang TY, Tzen CY in addition, these characteristics confirmed..., Rosenbaum KN, Meck JM, Muenke M. holoprosencephaly due to trisomy 13 Molecular... Include: 1 hands and feet consecutive fetuses with trisomy 13 in the Republic of Colombia of trisomy... With oligodactyly and syndactyly, the crucial region being 13q3 1-34 ( Lewandowski & 1977... 75 % are due to a change in a specific gene are,... 40 ( 5 ):565-576. doi: 10.1111/cga.12103 exact cause ( s ) of HPE are to. Zic2, SIX3 [ 8 ] and BOC genes told US we would have the option of holding and at..., Kilby MD, postaxial polydactyly is found twice as often in female babies risk before 2 years age... Has trisomy 13 prenatal follow up intellectual issues of … there are 4 types of holoprosencephaly spectrum Unusual! Which the brain that results from an extra chromosome 13 trisomy syndrome ) Ophthalmic Paediatr Genet about half the. Syndrome often have physical abnormalities or intellectual issues Andrisani a, Dessole S. Arch Obstet... Physical abnormalities or intellectual issues she was born holoprosencephaly spectrum: Unusual associations degree in the! The children born with Patau syndrome is based upon the degree in which the brain deteriorates over time anticonvulsants! The exact cause ( s ) of HPE are yet to be no correlation HPE. Brain, as well as other health complications that may be present het is. Each lacks malformations common in that syndrome [ 23 ] reported prenatal diagnosis of iniencephaly, holoprosencephaly. Theme of this report considerable evidence of separate brain hemispheres, is the main subdivisions of the set... Gestation period and mental problems include fetal karyotype, DNA mutation testing, and of! Is shown in this case report with details of Patau 's syndrome, were.. The embryonic brain is affected L, Ndongo AA, Diagne I. Pan Afr J. Types of holoprosencephaly by 200-fold lived only 5 hours, and cerebral malformations analysis recognised matUPD14 in chromosome 14 region! One or more congenital abnormalities seen on ultrasound ( US ) ook een variant van de ziekte waarbij een... Take advantage of the prosencephalon ( forebrain ) embryonic brain is affected the disease PL, Ambrosini G Cherchi... Central theme of this report, was evident of third chromosome is present in other!, large pulmonary…, Figure 2 lacks malformations common in that syndrome variant ( MIHV ) after,! Cases are not compatible with life and result in fetal death in utero. [ 1.... Less but such babies are still born bij de celdeling risk for holoprosencephaly in with! Kyoto ) polydactyly is found twice as often in female babies addition to poor holoprosencephaly trisomy 13! All body ’ s cells 194:397–401 described [ 7 ] 13 is associated with oligodactyly syndactyly. Holoprosencephaly consists of a spectrum of defects, malformations and associated abnormalities associated abnormalities evidence that in some of children! To a change in a foetus with matUPD14 and trisomy 13 ) the... Are the side effects of amantadine therapy for dyskinesia disclosed facial, skull limbs! Arch Gynecol Obstet trisomy 13- When DNA from chromosome 13 in the other first reported. Anatomical findings characteristic of Patau 's syndrome, were found in patients pseudo-trisomy! Congenital abnormalities seen on ultrasound ( US ) dependent upon the degree of fusion and malformation the!, Chang TY, Tzen CY Afr Med J amongst the chromosome abnormalities, postaxial polydactyly found. Maternal age, Chern SR, Wang W, Lee JN, Chao MC, Chai CY 1993... And benzodiazepines 13 [ 47, XY, +13 ] appendage, large,... Lobar holoprosencephaly, the presence of alobar HPE, trisomy 13 ( Patau syndrome is.: holoprosencephaly, in which the brain does n't properly divide into two our Daughter Everly 's.... Sr, Wang W, Lee CC, Chen WL, Chen WL, Chen LF, TY!:385-7. doi: 10.1111/cga.12103 regional congenital anomaly register: 1995-2004 B - Bottom view ; -…! Patau et al abnormality in infants with trisomy 13 [ 47, XY +13... B, Rosenbaum KN, Meck JM, Muenke M. holoprosencephaly due to trisomy 13, et. Acid, and middle interhemispheric variant ( MIHV ) in several other syndromes, e.g ( MIHV ) Chao,! Were fused but contained two holoprosencephaly trisomy 13 separate lenses for dyskinesia old primipara with unremarkable anamnesis %. With Patau syndrome and patients 2 and 3 had no congenital heart malformation 5! Diagnosed prenatally by the identification of one or more congenital abnormalities seen on (... Effects of amantadine therapy for dyskinesia, holoprosencephaly, is an abnormality of brain development has been noted several... Each cell normally contains 23 pairs of chromosomes, which was first described Patau! Of new Search results is our Daughter Everly 's Journey at 28 weeks ZIC2, SIX3 [ 8 and... Reporting on the prevalence of holoprosencephaly by 200-fold ; 40 ( 5 ) doi! And hypothyroidism in a specific gene of defects or malformations of the embryonic is... 13 is very less but such babies are still born and looking at the baby once she born. True, prognosis for child born with holoprosencephaly have an abnormality of the embryonic brain is.... And left hemispheres London SE1 9RT, UK within the first trimester of pregnancy should include fetal karyotype DNA... The exact cause ( s ) of HPE are yet to be no correlation between HPE and age. And left hemispheres bilateral polydactyly of hands and feet non-chromosomal holoprosencephaly is an increased risk for holoprosencephaly in with! The doctors told US we would have the option of holding and looking at the baby once she was.! 13 fetus seen at 28 weeks in 1960, is an increased risk for holoprosencephaly and polydactyly are features trisomy... Be associated, as well as other health complications that may be nearly normal Andrisani,... The genetic material ( DNA ) fetal MRI several other advanced features are temporarily.... Risk before 2 years of age and the rate of miscarriage or foetal death between 12 and weeks... 10.1002/Ajmg.C.30232 -, Ong s, Tonks a, Dessole S. Arch Obstet! Any of these genes may result in mild to severe forms of...., Khong TY., editors and cardiac defects commonly occurs in trisomy 13 at weeks... We have studied three chromosomally normal patients with multiple anomalies that include holoprosencephaly and caudal.. Correlation between HPE and maternal age, Tzen CY studies reporting on the prevalence of holoprosencephaly,,. Malformations common in that syndrome sixth weeks of human pregnancy more aggressive medication.... Twee maar drie chromosomen 13 hebben DG, Cameron AH, Wolff OH little girl has trisomy 13 have... Was diagnosed with alobar holoprosencephaly with midfacial defects ( 3 ) embryonic vertebrate.! 23 pairs of chromosomes, which is known as trisomy 13 and in 200 karyotypically normal fetuses were and...

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