Background And Purpose: Dandy-Walker malformation, vermian hypoplasia, and Blake pouch remnant represent a continuum of anomalies and are common reasons for referral for fetal MR imaging. This study aimed to determine biometric measurements that quantitatively delineate these 3 posterior fossa phenotypes.
Materials And Methods: Our single-center institutional review board approved a retrospective analysis of all fetal MRIs for posterior fossa malformations, including Dandy-Walker malformation, vermian hypoplasia, and Blake pouch remnant. Measurements included the anterior-to-posterior pons, craniocaudal and anterior-to-posterior vermis, lateral ventricle size, and tegmentovermian and posterior fossa angles. Measurements were compared with normal biometry and also between each subgroup.
Results: Thirty-three fetuses met the criteria and were included in the study. Seven were designated as having Dandy-Walker malformation; 16, vermian hypoplasia; and 10, Blake pouch remnant. No significant group interactions with adjusted mean gestational age for tegmentovermian and posterior fossa angles were observed. The tegmentovermian angle was significantly higher in Dandy-Walker malformation (109.5° [SD, 20.2°]) compared with vermian hypoplasia (52.13° [SD, 18.8°]) and Blake pouch remnant (32.1° [SD, 17.9°]), regardless of gestational age. Lateral ventricle sizes were significantly higher in Dandy-Walker malformation at a mean of ≥23.1 weeks' gestational age compared with vermian hypoplasia and Blake pouch remnant. The anterior-to-posterior and craniocaudal vermes were significantly smaller in Dandy-Walker malformation compared with vermian hypoplasia and Blake pouch remnant at mean of ≥23.1 weeks' gestational age.
Conclusions: Dandy-Walker malformation can be described in relation to vermian hypoplasia and Blake pouch remnant by an increased tegmentovermian angle; however, other potential qualifying biometric measurements are more helpful at ≥23.1 weeks' gestational age. Because they fall along the same spectrum of abnormalities, the difficulty in distinguishing these entities from one another makes precise morphologic and biometric descriptions important.
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http://dx.doi.org/10.3174/ajnr.A7215 | DOI Listing |
BMJ Case Rep
January 2025
Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine.
View Article and Find Full Text PDFJ Int Med Res
January 2025
Department of Cardiac Surgery, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, Gansu, China.
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department and Clinic of Rheumatology, Rehabilitation and Internal Diseases, Poznan University of Medical Sciences, 28 Czerwca 1956 r. 135/147, 61-545 Poznań, Poland.
DDX3X syndrome is often misdiagnosed as autism spectrum disorder (ASD, Rett Syndrome, and Dandy-Walker Syndrome). Precise phenotyping is needed with reference to neurodevelopmental diagnosis. Observation of behavior and communication in parents with DDX3X syndrome in the USA, France, and Poland; conversations with the parents of patients; and rudimentary information in evidence-based medical articles prompted us to identify differences in communication, play, and social interaction between children with ASD only, those with both ASD and , and those with only.
View Article and Find Full Text PDFAnn Med Surg (Lond)
December 2024
Department of Neurosurgery, Hannover Medical School, Hannover, Germany.
Introduction: Dandy-Walker syndrome (DWS), a complex neurodevelopmental disorder, has intrigued clinicians and researchers since its description by physicians Walter Dandy and Arthur Walker. Despite its recognition for nearly a century, understanding its etiology, pathogenesis, and clinical manifestations remains elusive. This bibliometric analysis aims to elucidate influential academic works on DWS.
View Article and Find Full Text PDFCureus
October 2024
Department of Radiodiagnosis, Sawai Man Singh (SMS) Medical College, Jaipur, IND.
Goldston syndrome (GS) is an extremely rare syndrome involving the central nervous system and kidneys. It is believed to have a familial association and an autosomal recessive inheritance and is characterized by the concomitant occurrence of cystic dysplastic kidneys and Dandy-Walker malformation. We report a case of antenatally detected GS at 22 weeks of gestation in a female with a consanguineous marriage.
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