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Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified.

Abstract Background Polymelia or congenital duplication of the lower limb is a rare occurrence. This congenital duplication when occurring in the region of the buttocks is known as pygomelia. Its appearance can even mimic a human tail or pseudotail. Case presentation A 22-year-old primigravida posted for emergency caesarean section was found to have a tail-like structure attached to her lower back. Pre-operative imaging of that appendage to rule out spinal dysraphism was not done due to the need of emergency surgery and pregnant status of the patient. The patient received general anaesthesia for surgery, and in the follow-up, X-ray imaging was done which showed a hemipelvis and a femur bone in that appendage confirming the diagnosis of pygomelia. Conclusions In a rare occurrence of pygomelia, the exact nature can be identified by various imaging modalities. General anaesthesia was a safe choice in such a patient presenting for emergency caesarean section.

Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified. [ABSTRACT FROM AUTHOR]

Abstract Background Pseudotail with occult spinal dysraphism with neurological deficit is a rare phenomenon. Ignoring pseudotail as sign of occult spinal dysraphism may lead to catastrophe in diagnosis and further management. Case presentation We are reporting a case of a 30-month-old male child who presented with a tail-like structure at lower back and dribbling of urine since birth. On initial evaluation at some other hospital, he was misdiagnosed as posterior urethral valve and underwent fulguration of valve. However, dribbling of urine persisted after initial procedure. On evaluation at our center, he was found to have pseudotail with occult spinal dysraphism and neurogenic bladder. Conclusion Pseudotail with occult spinal dysraphism with neurological deficit is a rare phenomenon. Neurogenic bladder in such case can be misdiagnosed as posterior urethral valve. So, neurogenic bladder with pseudotail should be evaluated cautiously to avoid misdiagnosis and mismanagement.

Aims: The human tail is one of the most interesting and rare congenital malformations of neural tube defects. There are two types of tails known to originate from the distal remnant of the embryonic tail. The true human tail is a vestigial organ containing adipose tissue and other connective tissues without vertebrae. Pseudotails, which bear superficial resemblances to the true tail, may occur connected to an underlying pathology such as lipoma or teratoma and are more commonly observed in the lumbosacrococcygeal region. It is often accompanied by spina bifida. Case presentation: The first patient was a 19-month-old baby boy born with a 6 cm tail at the midline. A low-lying conus was detected on magnetic resonance imaging (MRI). Unlike the others, the lipoma did not perform intraspinal invasion and is accompanied by spina bifida. The second patient was a 4-month-old baby boy born with a 2 cm tail and dermal sinus at the lateral. MRI showed an intraspinal lipoma and a low-lying conus. The third patient was a 20-year-old male with a 1 cm tail at the midline. Intraspinal lipoma and low conus were seen on MRI. Conclusions: Radiological evaluation is important in human tail cases. An MRI study should be performed to investigate the spinal pathologies of the lipoma accompanying the pseudotail and to determine if there is a nerve invasion. [ABSTRACT FROM AUTHOR]

Human tails are extremely infrequent and are generally diagnosed after birth, with no antenatal or family history associated with its occurrence. Different classification systems exist, however given its association with spinal dysraphism, it is important to include imaging studies during the assessment of patients with this congenital anomaly. We present the case of a human tail with no underlying spinal dysraphism that successfully underwent simple resection and reconstruction with Limberg plasty.

Background: Pseudotail with occult spinal dysraphism with neurological deficit is a rare phenomenon. Ignoring pseudotail as sign of occult spinal dysraphism may lead to catastrophe in diagnosis and further management. Case presentation: We are reporting a case of a 30-month-old male child who presented with a tail-like structure at lower back and dribbling of urine since birth. On initial evaluation at some other hospital, he was misdiagnosed as posterior urethral valve and underwent fulguration of valve. However, dribbling of urine persisted after initial procedure. On evaluation at our center, he was found to have pseudotail with occult spinal dysraphism and neurogenic bladder. Conclusion: Pseudotail with occult spinal dysraphism with neurological deficit is a rare phenomenon. Neurogenic bladder in such case can be misdiagnosed as posterior urethral valve. So, neurogenic bladder with pseudotail should be evaluated cautiously to avoid misdiagnosis and mismanagement. [ABSTRACT FROM AUTHOR]

Congenital spinal lipomatous malformations (spinal lipomas, lipomyeloceles, and lipomyelomeningoceles) are closed neural tube defects over the lower back. Differentiation from some other closed neural tube defects in this region can be problematic for pathologists. This review is based on PubMed searches of the embryology, gross and histopathologic findings, and laboratory reporting requisites for retained medullary spinal cords, coccygeal medullary vestiges and cysts, myelocystoceles, true human vestigial tails, and pseudotails for comparison with congenital spinal lipomatous malformations. Embryology, imaging, gross and histopathology of these closed neural tube lesions have different but overlapping features compared to congenital spinal lipomatous malformations, requiring context for diagnosis. The lipomyelocele spectrum and to some degree all of the malformations discussed, even though they may not share gross appearance, anatomic site, surgical approach, or prognosis, require clinical and histopathologic correlation for final diagnosis. [ABSTRACT FROM AUTHOR]

True human tails are rare vestigial structures that are typically removed in childhood. Here a case is presented in which an inconspicuous sacrococcygeal tail was incidentally discovered in late adulthood. A 56-year-old man with no significant past medical history presented to a dermatology clinic with a chief complaint of a hyperpigmented lesion on his central back. However, on full body skin exam, a separate flesh-colored 0.7 cm × 0.5 cm appendage was discovered in the midline sacrococcygeal region. This lesion had been present and unchanged since childhood. This particular lesion was removed via shave biopsy. Microscopic exam found it to be consistent with a diagnosis of a true human tail. There were no apparent involved spinal cord structures, and no further treatment was thought to be necessary. Human tails are congenital anomalies associated with occult spinal lesions in about 50% of cases. Therefore, it is in these patients' best interest to thoroughly evaluate for spinal cord involvement prior to biopsy. There is a relative lack of literature published on the topic, and a greater awareness of human tails would be helpful to ensure their inclusion in a differential diagnosis for persistent sacrococcygeal lesions in patients of any age. [ABSTRACT FROM AUTHOR]

Purpose: This case series describes a novel condition characterized by familial pseudotail associated with scoliosis, and synpolydactyly that has not been previously reported in literature.Methods: The authors present three siblings and one cousin from the same family living in the northern region of the Arabian Peninsula. All cases presented with pseudotail, scoliosis, and complex synpolydactyly. The authors demonstrated complete clinical and radiological descriptions in addition the detailed performed surgeries.Results: The histopathological result of the resected pseudotail specimens revealed bony lesion covered with thick fibrous tissue and evidence of mature adipocytes within trabecular spaces.Conclusions: The described cases represent a novel condition that has not been previously reported in the literature. Familial pseudotail scoliosis synpolydactyly syndrome is a newly recognized form of familial pseudotail. [ABSTRACT FROM AUTHOR]

A long pedunculated egg-shaped lipoma of the sacrum in a newborn infant, presenting as a tail, was treated surgically. Occult spinal dysraphism may be accompanied with this entity. Investigations for underlying dysraphism and its treatment are mandatory.

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Human tails are extremely infrequent and are generally diagnosed after birth, with no antenatal or family history associated with its occurrence. Different classification systems exist, however given its association with spinal dysraphism, it is important to include imaging studies during the assessment of patients with this congenital anomaly. We present the case of a human tail with no underlying spinal dysraphism that successfully underwent simple resection and reconstruction with Limberg plasty. [ABSTRACT FROM AUTHOR]

A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into 'true tails' and 'pseudotails'. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are presumed to be remnants of the embryologic tail. All other lumbosacrococcygeal protrusions are summarized as pseudotails. Superficially they may resemble true tails. They contain normal or abnormal tissue, e.g. cartilage, lipoma and glioma. We report a case of prenatal diagnosis of a human tail in association with omphalocele, hydrocephalus and antiphospholipid-antibody syndrome resulting in a severe fetal growth restriction. Due to cartilage content the appendage had to be classified as 'pseudotail'. However, anatomical position and the decrease of length observed by consecutive ultrasound examinations at 14 and 21 weeks of gestation was suggestive of delayed regression of a 'true tail'. Furthermore, the association of antiphospholipid-antibody syndrome with congenital malformations is discussed. [ABSTRACT FROM AUTHOR]