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Case Reports
. 2017 Jan 4;20(2):167-170.
doi: 10.1007/s40477-016-0231-4. eCollection 2017 Jun.

Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation

Shruti Khurana  1 , Vikram Saini  2 , Vibhor Wadhwa  3 , Harveen Kaur  4
Affiliations
Case Reports

Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation

Shruti Khurana et al. J Ultrasound. .

Abstract
in English, Italian

Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.

La sindrome di Meckel–Gruber (MGS) è una rara anomalia autosomatica recessiva caratterizzata dalla triade classica composta da encefalo occipitale, reni policistici e polidattilìa postassiale. Descriviamo un caso di MGS classica, diagnosticata con ecografia ed analisi genetiche, successivamente confermata dal test autoptico del feto.

Keywords: Fetal autopsy; Meckel–Gruber syndrome; Ultrasonography.

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Conflict of interest statement

Conflict of interest

There are no conflicts of interest.

Ethical approval

This study involves postmortem autopsy of the fetal human specimen. No animals were involved in the study.

Informed consent

An informed consent was obtained from the patient for the termination of pregnancy, fetal autopsy and histopathological examination of the specimens.

Figures

Fig. 1
Fig. 1
Prenatal ultrasound at 17 weeks showing echogenic occipital encephalocele
Fig. 2
Fig. 2
Autopsy of the fetus demonstrating a distended abdomen, b occipital encephalocele, c polydactyly and d bilaterally enlarged kidneys
Fig. 3
Fig. 3
X-ray of the terminated fetus showing shortening and bowing of the limbs
Fig. 4
Fig. 4
Histopathology of the kidney showing multiple cystic renal dysplasia (H&E, ×40)
See this image and copyright information in PMC

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