Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS.
Fetal Pediatr Pathol
; 41(5): 871-880, 2022 Oct.
Article
in En
| MEDLINE
| ID: mdl-34689682
ABSTRACT
BACKGROUND:
Congenital multisystemic lesions with co-occurrence of non-random malformations, such as VACTERL-H or MURCS association, often pose serious threads to the newborn and still constitute an antenatal diagnostic dilemma. CASE REPORT A malformed fetus with VACTERL-H association at 20 gestational weeks had a skin-covered neural tube defect (NTD) of the lower cervical spine, concomitant hydrocephalus, as well as unilateral multicystic dysplastic kidney and the suspicion of mullerian duct anomaly as potentially assigned to MURCS association. DISCUSSION/CONCLUSION:
We were able to demonstrate how well-defined, standardized volumetric reconstruction of diagnostic views displaying fetal pathology in utero might aid early and precise diagnosis of multi-organ malformations. Application of modern diagnostic imaging tools is helpful in delineation of the most likely diagnoses (VACTERL-H vs. MURCS) as further specified during detailed pathologic work-up and might consequently facilitate individually tailored interdisciplinary counseling, as in the case presented here.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Limb Deformities, Congenital
/
Multicystic Dysplastic Kidney
/
Heart Defects, Congenital
/
Hydrocephalus
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Fetal Pediatr Pathol
Journal subject:
PATOLOGIA
/
PEDIATRIA
Year:
2022
Document type:
Article
Affiliation country:
Germany