Case of the week
Case of the week
#1 -
07/24/2025
said
“Murat Cagan, I reasoned the same way”
#2 -
12/13/2025
said
“Hi Dr Cagan,
Thank you for your message,
As we mentioned in the case, prenatally we thought about 3 possible diagnoses :
Prune-Belly syndrome
VACTERL association
MMHIS (megabladder microcolon hypoperistalsis), though usually described in females
Why PBS ? At birth, the flattened and wrinkled skin of the belly is kind of unique and led us to conclude to a prune belly syndrome, since the pathogenesis is rather linked to primary mesenchymal defect of the abdominal wall muscles and not just a distended belly.
The additional findings such as a short left foot, lumbar hemivertebrae and anal atresia are additional features but not the main phenotype. As mentioned in the discussion, in the description of prune belly syndrome one may find such additional minor findings, so these do not contradict the main diagnosis of prune belly syndrome, and all the contrary add clues for a syndromic condition.
You may check Orphanet and Omim summary of the clinical phenotype of PBS :
https://www.omim.org/entry/100100
https://www.orpha.net/en/disease/detail/2970
VACTERL association is indeed a differential diagnosis. However it seems to us that VACTERL has become an exclusion diagnosis when one has no precise idea, since VACTERL is an association with wide overlapping definitions, whose physiopathology is not well known, and without gene anomalies identified so far.
About Casamassima-Morton-Nance syndrome : although there are case reports that still mention this syndrome up to now, that syndrome isn't well defined on OMIM https://www.omim.org/entry/271520 and has even been revoked from orpha.net https://www.orpha.net/en/disease/detail/94095 Its traditional description would be nowaways considered in the Skeletal Ciliopathies group, which is a continuum encompassing the descriptions of Jarcho-Levin syndrome, Jeune's thoracic dysplasia etc. These too can be associated with extraskeletal anomalies, but the main features is thoracic = spondyles + ribs anomalies.
Of course, all of these classifications are constantly evolving with genetic & physiopathologic findings !
In the same way the descriptions of our predecessors are being merged or modified, our diagnosis of PBS in 2025 might be different in the future.
Thanks for your interest in our case,
Best regards,
Fabien HO, MD, radiologist, case 631 main author.”
Thank you for your message,
As we mentioned in the case, prenatally we thought about 3 possible diagnoses :
Prune-Belly syndrome
VACTERL association
MMHIS (megabladder microcolon hypoperistalsis), though usually described in females
Why PBS ? At birth, the flattened and wrinkled skin of the belly is kind of unique and led us to conclude to a prune belly syndrome, since the pathogenesis is rather linked to primary mesenchymal defect of the abdominal wall muscles and not just a distended belly.
The additional findings such as a short left foot, lumbar hemivertebrae and anal atresia are additional features but not the main phenotype. As mentioned in the discussion, in the description of prune belly syndrome one may find such additional minor findings, so these do not contradict the main diagnosis of prune belly syndrome, and all the contrary add clues for a syndromic condition.
You may check Orphanet and Omim summary of the clinical phenotype of PBS :
https://www.omim.org/entry/100100
https://www.orpha.net/en/disease/detail/2970
VACTERL association is indeed a differential diagnosis. However it seems to us that VACTERL has become an exclusion diagnosis when one has no precise idea, since VACTERL is an association with wide overlapping definitions, whose physiopathology is not well known, and without gene anomalies identified so far.
About Casamassima-Morton-Nance syndrome : although there are case reports that still mention this syndrome up to now, that syndrome isn't well defined on OMIM https://www.omim.org/entry/271520 and has even been revoked from orpha.net https://www.orpha.net/en/disease/detail/94095 Its traditional description would be nowaways considered in the Skeletal Ciliopathies group, which is a continuum encompassing the descriptions of Jarcho-Levin syndrome, Jeune's thoracic dysplasia etc. These too can be associated with extraskeletal anomalies, but the main features is thoracic = spondyles + ribs anomalies.
Of course, all of these classifications are constantly evolving with genetic & physiopathologic findings !
In the same way the descriptions of our predecessors are being merged or modified, our diagnosis of PBS in 2025 might be different in the future.
Thanks for your interest in our case,
Best regards,
Fabien HO, MD, radiologist, case 631 main author.”
The development of the anterior abdominal wall muscles may also be affected by other conditions that cause abdominal distension. You cannot explain the findings in the case as just Prune Belly Syndrome. The case has megacystis and hydronephrosis, but how do you explain the micromelia, anal atresia, and hemivertebrae? Abnormal fetal position and facial appearance of a Potter sequence cannot be typical without oligohydramnios. The VACTERL association might be a more accurate answer. In this case, how can you explain if you have Spondylocostal Dysostosis/ Casamassima-Morton-Nance syndrome or etc.? I request that the case be reviewed by the reviewers in terms of VACTERL association rather than Prune Belly syndrome.