Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging.
Absent pectoralis muscle
Brain stem
Fetal MRI
Medulla
Möbius
Poland
Pons
Prenatal diagnosis
Journal
Pediatric radiology
ISSN: 1432-1998
Titre abrégé: Pediatr Radiol
Pays: Germany
ID NLM: 0365332
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
received:
26
05
2023
accepted:
22
06
2023
revised:
21
06
2023
medline:
14
9
2023
pubmed:
10
7
2023
entrez:
9
7
2023
Statut:
ppublish
Résumé
We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis muscles associated with dextroposition of the fetal heart and elevation of the left diaphragm. Associated brain anomalies that led to the diagnosis of Poland-Möbius syndrome, included ventriculomegaly, hypoplastic cerebellum, tectal beaking, and a peculiar flattening of the posterior aspect of the pons and medulla oblongata, which has been reported by postnatal diffusion tensor imaging studies as a reliable neuroimaging marker for Möbius syndrome. Since abnormalities of cranial nerves VI and VII may be difficult to detect prenatally, careful attention to the appearance of the brain stem as illustrated in the current report may aid in the prenatal diagnosis of Möbius syndrome.
Identifiants
pubmed: 37423914
doi: 10.1007/s00247-023-05712-8
pii: 10.1007/s00247-023-05712-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2144-2148Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
Romanini MV, Calevo MG, Puliti A et al (2018) Poland syndrome: a proposed classification system and perspectives on diagnosis and treatment. Semin Pediatr Surg 27:189–199
doi: 10.1053/j.sempedsurg.2018.05.007
pubmed: 30078491
Picciolini O, Porro M, Cattaneo E et al (2016) Moebius syndrome: clinical features, diagnosis, management and early intervention. Ital J Pediatr 42:56
doi: 10.1186/s13052-016-0256-5
pubmed: 27260152
pmcid: 4893276
Sadeghi N, Hutchinson E, Van Ryzin C et al (2020) Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun 2:fcaa014
doi: 10.1093/braincomms/fcaa014
pubmed: 32328577
pmcid: 7158234
Ram AN, Chung KC (2009) Poland’s syndrome: current thoughts in the setting of a controversy. Plast Reconstr Surg 123:949–953
doi: 10.1097/PRS.0b013e318199f508
pubmed: 19319059
pmcid: 4410274
Baldelli I, Baccarani A, Barone C et al (2020) Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence). Orphanet J Rare Dis 15:201
doi: 10.1186/s13023-020-01481-x
pubmed: 32758259
pmcid: 7405453
Ouanounou S, Saigal G, Birchansky S (2005) Mobius syndrome. AJNR Am J Neuroradiol 26:430–432
pubmed: 15709151
pmcid: 7974090
Herrera DA, Ruge NO, Florez MM et al (2019) Neuroimaging findings in Moebius sequence. AJNR Am J Neuroradiol 40:862–865
doi: 10.3174/ajnr.A6028
pubmed: 30948378
Parenti VG, Liu X, Mehta A et al (2020) Imaging findings in Mobius-Poland syndrome. Radiol Case Rep 15:379–381
doi: 10.1016/j.radcr.2020.01.002
pubmed: 32055264
pmcid: 7005507