Skip to main content

2025 | OriginalPaper | Buchkapitel

12. Skelettsystem

verfasst von : Priv.-Doz. Dr. med. Thomas Schramm

Erschienen in: Ultraschalldiagnostik in Geburtshilfe und Gynäkologie

Verlag: Springer Berlin Heidelberg

Zusammenfassung

Entwicklungsstörungen des fetalen Skeletts betreffen etwa 1:300 bis 1:250 Feten. Es können einzelne Abschnitte der Extremitäten (Dysmelien) betroffen sein, aber auch das komplette Skelett (Skelettdysplasien) sowie die Schädelknochen (Kraniosynostosen) oder die Wirbelsäule (Segmentationsstörungen). Für die meisten der für sich jeweils seltenen Erkrankungen sind die genetischen Grundlagen (Einzelgenmutationen, chromosomale Aberrationen) bekannt und pränatal zu diagnostizieren.
Literatur
Zurück zum Zitat Cama A, Palmieri A, Capra V, Piatelli GL, Ravegnani M, Fondelli P (1996) Multidisciplinary management of caudal regression syndrome (26 cases). Eur J Pediatr Surg 6(Suppl 1):44–45PubMed Cama A, Palmieri A, Capra V, Piatelli GL, Ravegnani M, Fondelli P (1996) Multidisciplinary management of caudal regression syndrome (26 cases). Eur J Pediatr Surg 6(Suppl 1):44–45PubMed
Zurück zum Zitat Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, Pajkrt E, Cole TJ (2011) New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol 37:283–289CrossRefPubMed Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, Pajkrt E, Cole TJ (2011) New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol 37:283–289CrossRefPubMed
Zurück zum Zitat Cohen M (2011) Apert, Crouzon, and Pfeiffer-Syndromes. In: Muenke M, Kress W, Collmann H, Solomon BD (eds) Craniosynostoses: molecular genetics, principles of diagnosis, and treatment. Monogr Hum Genet 19:67–88 Cohen M (2011) Apert, Crouzon, and Pfeiffer-Syndromes. In: Muenke M, Kress W, Collmann H, Solomon BD (eds) Craniosynostoses: molecular genetics, principles of diagnosis, and treatment. Monogr Hum Genet 19:67–88
Zurück zum Zitat Delahaye S, Bernard JP, Rénier D, Ville Y (2003) Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol 21:347–353CrossRefPubMed Delahaye S, Bernard JP, Rénier D, Ville Y (2003) Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol 21:347–353CrossRefPubMed
Zurück zum Zitat Esser T, Rogalla P, Bamberg C, Kalache KD (2005) Application of the three-dimensional maximum mode in prenatal diagnosis of Apert syndrome. Am J Obstet Gynecol 193:1743–1745CrossRefPubMed Esser T, Rogalla P, Bamberg C, Kalache KD (2005) Application of the three-dimensional maximum mode in prenatal diagnosis of Apert syndrome. Am J Obstet Gynecol 193:1743–1745CrossRefPubMed
Zurück zum Zitat Faro C, Benoit B, Wegrzyn P, Chaoui R, Nicolaides KH (2005) Three-dimensional sonografic description of the fetal frontal bones and metopic suture. Ultrasound Obstet Gynecol 26:618–621CrossRefPubMed Faro C, Benoit B, Wegrzyn P, Chaoui R, Nicolaides KH (2005) Three-dimensional sonografic description of the fetal frontal bones and metopic suture. Ultrasound Obstet Gynecol 26:618–621CrossRefPubMed
Zurück zum Zitat Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA (2013) Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol 4:94–105CrossRefPubMed Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA (2013) Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol 4:94–105CrossRefPubMed
Zurück zum Zitat Gold NB, Westgate M-N, Holmes LB (2011) Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet Part A 155:1225–1235CrossRef Gold NB, Westgate M-N, Holmes LB (2011) Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet Part A 155:1225–1235CrossRef
Zurück zum Zitat Khalil A, Pajkrt E, Chitty LS (2011) Early prenatal diagnosis of skeletal anomalies. Prenat Diagn 31:115–124CrossRefPubMed Khalil A, Pajkrt E, Chitty LS (2011) Early prenatal diagnosis of skeletal anomalies. Prenat Diagn 31:115–124CrossRefPubMed
Zurück zum Zitat Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL (2008) Evaluation of prenatal-onset osteochondrodysplasias by ultrasonografy: a retrospective and prospective analysis. Am J Med Genet A 146 A:1917–1924CrossRef Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL (2008) Evaluation of prenatal-onset osteochondrodysplasias by ultrasonografy: a retrospective and prospective analysis. Am J Med Genet A 146 A:1917–1924CrossRef
Zurück zum Zitat Merz E, Wellek S (1996) Das normale fetale Wachstumsprofil – ein einheitliches Modell zur Berechnung von Normkurven für die gängigen Kopf- und Abdomenparameter sowie die großen Extremitätenknochen. Ultraschall Med 17:153–162CrossRefPubMed Merz E, Wellek S (1996) Das normale fetale Wachstumsprofil – ein einheitliches Modell zur Berechnung von Normkurven für die gängigen Kopf- und Abdomenparameter sowie die großen Extremitätenknochen. Ultraschall Med 17:153–162CrossRefPubMed
Zurück zum Zitat Moore KL, Persaud TVN (2018) The developing human. Elsevier Saunders, Philadelphia Moore KL, Persaud TVN (2018) The developing human. Elsevier Saunders, Philadelphia
Zurück zum Zitat Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML (2019) Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A 179:2393–2419CrossRefPubMed Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML (2019) Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A 179:2393–2419CrossRefPubMed
Zurück zum Zitat Mottet N, Martinovic J, Baeza C, Guimiot F, Bault JP, Aubry MC, Riethmuller D, Zerah M, Cretolle C, Benachi A (2017) Think of the conus medullaris at the time of diagnosis of fetal sacral agenesis. Fetal Diagn Ther 42:137–143CrossRefPubMed Mottet N, Martinovic J, Baeza C, Guimiot F, Bault JP, Aubry MC, Riethmuller D, Zerah M, Cretolle C, Benachi A (2017) Think of the conus medullaris at the time of diagnosis of fetal sacral agenesis. Fetal Diagn Ther 42:137–143CrossRefPubMed
Zurück zum Zitat Oelmeier K, Schmitz R, Dera I, Plaßmann M, Braun J, Willy D, Sourouni M, Köster HA, Steinhard J, Röpke A, Klockenbusch W, Möllers M (2022) Congenital limb defects: a retrospective cohort study and overview of the literature. Ultraschall Med 44:e241–e247CrossRefPubMed Oelmeier K, Schmitz R, Dera I, Plaßmann M, Braun J, Willy D, Sourouni M, Köster HA, Steinhard J, Röpke A, Klockenbusch W, Möllers M (2022) Congenital limb defects: a retrospective cohort study and overview of the literature. Ultraschall Med 44:e241–e247CrossRefPubMed
Zurück zum Zitat Pajkrt E, Chitty LS (2019) A sonographic approach to the prenatal diagnosis of skeletal dysplasias. Prenat Diagn 39(9):701–719CrossRefPubMed Pajkrt E, Chitty LS (2019) A sonographic approach to the prenatal diagnosis of skeletal dysplasias. Prenat Diagn 39(9):701–719CrossRefPubMed
Zurück zum Zitat Paladini D, Greco E, Sglavo G, D’Armiento MR, Penner I, Nappi C (2010) Congenital anomalies of upper extremities: prenatal ultrasound diagnosis, significance, and outcome. Am J Obstet Gynecol 202:596.e1–596.e10CrossRefPubMed Paladini D, Greco E, Sglavo G, D’Armiento MR, Penner I, Nappi C (2010) Congenital anomalies of upper extremities: prenatal ultrasound diagnosis, significance, and outcome. Am J Obstet Gynecol 202:596.e1–596.e10CrossRefPubMed
Zurück zum Zitat Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB (1996) Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 61:49–58CrossRefPubMed Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB (1996) Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 61:49–58CrossRefPubMed
Zurück zum Zitat Romosan G, Henriksson E, Rylander A, Valentin L (2009) Diagnostic performance of routine ultrasound screening for fetal abnormalities in an unselected Swedish population in 2000–2005. Ultrasound Obstet Gynecol 34:526–533CrossRefPubMed Romosan G, Henriksson E, Rylander A, Valentin L (2009) Diagnostic performance of routine ultrasound screening for fetal abnormalities in an unselected Swedish population in 2000–2005. Ultrasound Obstet Gynecol 34:526–533CrossRefPubMed
Zurück zum Zitat Scherer S, Martucciello G, Lerone M, Belloni E (2016) HLXB9 (MNX1), sacral agenesis, and the Currarino syndrome. In: Erickson RP, Wynshaw-Boris AJ (Hrsg) Epstein’s inborn errors of development: the molecular basis of clinical disorders of morphogenesis, 3. Aufl. Oxford University Press, New York, S 715–720CrossRef Scherer S, Martucciello G, Lerone M, Belloni E (2016) HLXB9 (MNX1), sacral agenesis, and the Currarino syndrome. In: Erickson RP, Wynshaw-Boris AJ (Hrsg) Epstein’s inborn errors of development: the molecular basis of clinical disorders of morphogenesis, 3. Aufl. Oxford University Press, New York, S 715–720CrossRef
Zurück zum Zitat Schramm T (2011) Prenatal sonografic diagnosis of craniosynostosis. In: Muenke M, Kress W, Collmann H, Solomon BD (eds) Craniosynostoses: molecular genetics, principles of diagnosis, and treatment. Monogr Hum Genet 19:184–198CrossRef Schramm T (2011) Prenatal sonografic diagnosis of craniosynostosis. In: Muenke M, Kress W, Collmann H, Solomon BD (eds) Craniosynostoses: molecular genetics, principles of diagnosis, and treatment. Monogr Hum Genet 19:184–198CrossRef
Zurück zum Zitat Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B (2009) Prenatal sonografic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 34:160–170CrossRefPubMed Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B (2009) Prenatal sonografic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 34:160–170CrossRefPubMed
Zurück zum Zitat Sharma R, Stone S, Alzouebi A, Hamoda H, Kumar S (2011) Perinatal outcome of prenatally diagnosed congenital talipes equinovarus. Prenat Diagn 31:142–145CrossRefPubMed Sharma R, Stone S, Alzouebi A, Hamoda H, Kumar S (2011) Perinatal outcome of prenatally diagnosed congenital talipes equinovarus. Prenat Diagn 31:142–145CrossRefPubMed
Zurück zum Zitat Snijders RJ, Nicolaides KH (1994) Fetal biometry at 14–40 weeks’ gestation. Ultrasound Obstet Gynecol 4:34–48CrossRefPubMed Snijders RJ, Nicolaides KH (1994) Fetal biometry at 14–40 weeks’ gestation. Ultrasound Obstet Gynecol 4:34–48CrossRefPubMed
Zurück zum Zitat Solomon B, Muenke M (2011) Muenke-Syndrom. In: Muenke M, Kress W, Collmann H, Solomon BD (eds) Craniosynostoses: molecular genetics, principles of diagnosis, and treatment. Monogr Hum Genet 19:89–98CrossRef Solomon B, Muenke M (2011) Muenke-Syndrom. In: Muenke M, Kress W, Collmann H, Solomon BD (eds) Craniosynostoses: molecular genetics, principles of diagnosis, and treatment. Monogr Hum Genet 19:89–98CrossRef
Zurück zum Zitat Stoll C, Dott B, Roth MP, Alembik Y (1989) Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88–92CrossRefPubMed Stoll C, Dott B, Roth MP, Alembik Y (1989) Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88–92CrossRefPubMed
Zurück zum Zitat Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M (2000) Evaluation of the prenatal diagnosis of limb reduction deficiencies. Prenat Diagn 20:811–818CrossRefPubMed Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M (2000) Evaluation of the prenatal diagnosis of limb reduction deficiencies. Prenat Diagn 20:811–818CrossRefPubMed
Zurück zum Zitat Stoll C, Mastroiacovo P, de Wals P, Weatherall J, Garne E (2004) EUROCAT Guide 3, 2nd ed. For the description and classification of congenital limb defects. www.eurocat-network.eu Stoll C, Mastroiacovo P, de Wals P, Weatherall J, Garne E (2004) EUROCAT Guide 3, 2nd ed. For the description and classification of congenital limb defects. www.​eurocat-network.​eu
Zurück zum Zitat Swanson AB, Swanson GD, Tada K (1983) A classification for congenital limb malformation. J Hand Surg Am 8(5 Pt 2):693–702CrossRefPubMed Swanson AB, Swanson GD, Tada K (1983) A classification for congenital limb malformation. J Hand Surg Am 8(5 Pt 2):693–702CrossRefPubMed
Zurück zum Zitat Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH (2019) Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 54:468–476CrossRefPubMed Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH (2019) Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11–13 weeks’ gestation. Ultrasound Obstet Gynecol 54:468–476CrossRefPubMed
Zurück zum Zitat van Bosse HJ (2011) Ponseti treatment for clubfeet: an international perspective. Curr Opin Pediatr 23:41–45CrossRefPubMed van Bosse HJ (2011) Ponseti treatment for clubfeet: an international perspective. Curr Opin Pediatr 23:41–45CrossRefPubMed
Zurück zum Zitat Yeh P, Saeed F, Paramasivam G, Wyatt-Ashmead J, Kumar S (2011) Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias. Prenat Diagn 31:515–518CrossRefPubMed Yeh P, Saeed F, Paramasivam G, Wyatt-Ashmead J, Kumar S (2011) Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias. Prenat Diagn 31:515–518CrossRefPubMed
Metadaten
Titel
Skelettsystem
verfasst von
Priv.-Doz. Dr. med. Thomas Schramm
Copyright-Jahr
2025
Verlag
Springer Berlin Heidelberg
DOI
https://doi.org/10.1007/978-3-662-67373-7_12