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Caudal duplication syndrome.

Sur A, Sardar SK, Paria A - J Clin Neonatol (2013)

Bottom Line: It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm.It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme.Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level.

View Article: PubMed Central - PubMed

Affiliation: Department of Neonatology, SSKM Hospital and IPGME and R, Kolkata, West Bengal, India.

ABSTRACT
Caudal duplication syndrome is a rare entity in which structures derived from the embryonic cloaca and notochord are duplicated to various extents. Its prevalence at birth is less than 1 per 100,000. The term caudal duplication encompasses a spectrum of anomalies and is often used to describe incomplete separation of monovular twins or referred to as part of the spectrum of anomalies associated with conjoined twinning. It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm. It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme. The malformations are usually diagnosed by anomaly scan in the second trimester. Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level.

No MeSH data available.


Related in: MedlinePlus

Magnetic resonance imaging PIC 2
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Figure 3: Magnetic resonance imaging PIC 2

Mentions: A female baby, delivered by cesarean section at term to a second gravida mother was sent to our neonatal intensive care with obvious structural anomalies. Physical examination revealed duplicity of the anal orifice and vulvar introit with the passage of meconium through both anal orifices [Figure 1]. She also had an umbilical hernia. She was subjected to the following imaging modalities: (1) Echocardiography, (2) conventional X-ray, and (3) magnetic resonance imaging (MRI) of pelvis. Echocardiography revealed inter-atrial communication in the form of a patent foramen oval and no other structural defects. X-ray revealed duplication of the vertebral column below the dorso-lumbar junction. MRI revealed the following anomalies [Figures 2 and 3]:


Caudal duplication syndrome.

Sur A, Sardar SK, Paria A - J Clin Neonatol (2013)

Magnetic resonance imaging PIC 2
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3775131&req=5

Figure 3: Magnetic resonance imaging PIC 2
Mentions: A female baby, delivered by cesarean section at term to a second gravida mother was sent to our neonatal intensive care with obvious structural anomalies. Physical examination revealed duplicity of the anal orifice and vulvar introit with the passage of meconium through both anal orifices [Figure 1]. She also had an umbilical hernia. She was subjected to the following imaging modalities: (1) Echocardiography, (2) conventional X-ray, and (3) magnetic resonance imaging (MRI) of pelvis. Echocardiography revealed inter-atrial communication in the form of a patent foramen oval and no other structural defects. X-ray revealed duplication of the vertebral column below the dorso-lumbar junction. MRI revealed the following anomalies [Figures 2 and 3]:

Bottom Line: It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm.It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme.Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level.

View Article: PubMed Central - PubMed

Affiliation: Department of Neonatology, SSKM Hospital and IPGME and R, Kolkata, West Bengal, India.

ABSTRACT
Caudal duplication syndrome is a rare entity in which structures derived from the embryonic cloaca and notochord are duplicated to various extents. Its prevalence at birth is less than 1 per 100,000. The term caudal duplication encompasses a spectrum of anomalies and is often used to describe incomplete separation of monovular twins or referred to as part of the spectrum of anomalies associated with conjoined twinning. It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm. It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme. The malformations are usually diagnosed by anomaly scan in the second trimester. Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level.

No MeSH data available.


Related in: MedlinePlus