UNASSIGNED: Sacral agenesis is a rare congenital condition that is characterized by sacrococcygeal bone agenesis. It is associated with spinal cord anomalies as well as problems with the genitourinary system, large bowel, and lower extremities. Fetal ultrasound allows for diagnosis even before birth.
UNASSIGNED: The authors present the case of a 1-year-old girl with sacral agenesis type III and bilateral congenital talipes equinovarus with spina bifida who was born to a nondiabetic mother and had a normal anomaly scan.
UNASSIGNED: People with less severe forms of sacral agenesis can live a normal life, and it is not connected with cognitive impairment; however, concomitant bladder, colon, and lower limb disorders cause considerable morbidity. The majority of treatment is supportive, frequently requiring orthopedic, urological, gastroenterological, pediatric, and physiotherapy support.
UNASSIGNED: Genetic and prepregnancy counseling, as well as early screening of high-risk mothers, remain the only options for prevention of the disease since treatment is mostly supportive.

Two boxer dogs from the same litter were presented at 3 months of age for urinary and fecal incontinence. Both dogs had an abnormal tail consisting of a small stump, an atonic anal sphincter, and absent perineal reflex and sensation. Neurological evaluation was indicative of a lesion of the cauda equina or sacral spinal cord. Radiology and CT scan of the spine displayed similar findings in the two dogs that were indicative of sacral agenesis. Indeed, they had 6 lumbar vertebrae followed by a lumbosacral transitional vertebra, lacking a complete spinous process, and a hypoplastic vertebra carrying 2 hypoplastic sacral transverse processes as the only remnant of the sacral bone. Caudal vertebrae were absent in one of the dogs. On MRI, one dog had a dural sac occupying the entire spinal canal and ending in a subfascial fat structure. In the other dog, the dural sac finished in an extracanalar, subfascial, well-defined cystic structure, communicating with the subarachnoid space, and consistent with a meningocele. Sacral agenesis-that is the partial or complete absence of the sacral bones-is a neural tube defect occasionally reported in humans with spina bifida occulta. Sacral agenesis has been described in human and veterinary medicine in association with conditions such as caudal regression syndrome, perosomus elumbis, and Currarino syndrome. These neural tube defects are caused by genetic and/or environmental factors. Despite thorough genetic investigation, no candidate variants in genes with known functional impact on bone development or sacral development could be found in the affected dogs. To the best of the authors\' knowledge, this is the first report describing similar sacral agenesis in two related boxer dogs.

Caudal regression syndrome (CRS) is a rare inherited disorder associated with orthopedic deformities, as well as urological, anorectal, and spine malformations. We present 3 cases of CRS found in our hospital, along with the respective radiologic and clinical findings of the disease. With different problems and chief complaints from each case, we propose a diagnostic algorithm that can be used as a helpful tool in managing CRS. CRS is a complex and rare congenital disorder that affects multiple systems and can result in a range of malformations. The diagnostic algorithm proposed from our findings from 3 CRS cases is important to help healthcare providers identify the types of CRS and apply a more individualized approach to improve the quality of life for the patient.

Currarino triad is a rare syndrome, with less than 250 cases reported, and it includes a combination of sacrococcigeal bony abnormalities, anorectal malformations and the presence of a presacral mass. Here we present a case of a 48-year-old male patient with history of severe chronic constipation, who was incidentally diagnosed with a presacral during imagiological investigation, which was histologically proven to be a neurendocrine tumor.

Sacral agenesis or CRS (caudal regression syndrome) is a rare congenital condition involving approximately 1 in 25 000 live births (Sharma et al., 2015) and leading to the absence of lower sacral vertebral bodies and severe malformations of the pelvis. This condition is associated with an extreme reduction of the xipho-pubic distance and of the pelvic dimensions. It is reasonable to think that this might lead to an increased difficulty in obtaining a spontaneous pregnancy and to a consistently increased risk of maternal and perinatal complications. In literature, very little is known about pregnancy in patients with sacral agenesis and therefore on the appropriate way to counsel a patient with this condition who is trying to get pregnant (Greenwell et al., 2013). Although a case of pregnancy in a woman with sacral agenesis is mentioned in a book (J. Rogers, 2006) no cases of women with CRS carrying a pregnancy until a viable age for the fetus are reported in medical literature: as far as we know this is the first case reported in literature of a woman with this condition followed before and throughout the pregnancy with reported pre- and perinatal management, leading to a near-term pregnancy. This case could be useful for clinicians who are requested to counsel female patients with the same condition on the possibility of a pregnancy and possible outcomes.

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BACKGROUND: Progression of scoliosis following completion of growth, and the combination of low mental retardation and the conspicuous sagittal clinical and radiographic abnormalities suggest a secondary genesis of the scoliosis according to a genetic aberration.
METHODS: In the outpatient department, an 18-year-old woman presents with scoliosis and mild mental retardation. Radiography findings demonstrate a sacral agenesis and then consecutively performed magnetic resonance imaging on a conus depression. Because of the symptom constellation, a genetic syndrome was suspected. Genetic diagnostics revealed a trisomy 19q and monosomy 7q. Typically, deletions of the subtelomere 7q show a phenotype with growth retardation, facial anomalies, and intellectual deficit; trisomy of the subtelomere 19q shows growth retardation, atypical ears, short neck, and intellectual deficit with delayed development. The further clinical radiologic and neurologic examination showed no evidence of a tethered cord syndrome. The correction of scoliosis was performed under intraoperative neurophysiological monitoring without neurologic complications.
CONCLUSIONS: In the presence of dysplastic sacral changes and accompanying elongated conus medullaris in patients with scoliosis, it is always necessary to think of rare chromosome aberrations and to initiate appropriate diagnostics before surgery. The intraoperative neurophysiological monitoring is strongly recommended, owing to a morphologically, and not fully-excludable, tethered cord syndrome.

Medulloblastoma is a congenital brain tumor which can be associated with different congenital anomalies. However, coincidence of cerebellar medulloblastoma with sacral agenesis has not been reported so far. A variety of genetic and/or environmental predisposing factors have been proposed for both diseases. Herein, an unprecedented coincidence of these two conditions is presented. A neonate was born with lumbosacral agenesis, paraplegia, and atrophic legs, and he developed medulloblastoma with three ventricular hydrocephalus 3 years later. Different aspects regarding the embryology and etiology of both ailments are discussed, assuming the possibility that the same genetic and/or environmental risk factors may have played a part in both conditions.

Amniotic band syndrome is a rare congenital disorder caused by entrapment of fetal parts by fibrous amniotic bands in utero. The congenital anomalies seen in this syndrome vary widely and defects may be isolated or multiple and do not follow a specific pattern. Asymmetric distribution of defects is the hallmark of this syndrome. The diagnosis is difficult to make on ultrasound and relies on identification of amniotic bands. We report a case of amniotic band syndrome with sacral agenesis diagnosed on routine antenatal ultrasound scan in the second offspring of a recently diagnosed diabetic mother. The associated features were entrapment of umbilical cord, caudal adhesions and lower limb anomalies. Medical termination of pregnancy was done and all the fetal anomalies as well as umbilical cord abnormalities were confirmed. The importance of meticulous scanning to evaluate for amniotic bands and the umbilical cord in addition to the fetal structures is emphasized.

Caudal regression syndrome (CRS) is a congenital disorder which is seen vertebral anomalies in varying degrees from lower thoracic spineto the level of the coccyx. We present a case of CRS which is not intended operation for orthopedic deformities considering functionality. 2, 5 year-old girl referred to our clinic with complaints about walking disability, knee and foot deformities. Patient\'s mother with unregulated diabetes did not have a history of drug use, radiation exposure and serious illness during pregnancy. Diagnosis had been put during antenatal follow-ups. On physical examination, her lower extremities were hypoplastic and had no muscle activity. Her hips were flexed and abducted, but did not have contractures. Her knees had 75 degrees of flexion contractures with popliteal webs and feet had equinovarus deformity. Frog belly was present due to abdominal muscles weakness. Also hypoplasic labia majora has been identified. In lumbar MRI, spinal cord was terminated at 6th thoracic (T6) vertebrae and the last solid vertebrae level was at T10. Patient who has been following by urology with clean intermittent catheterization had also severe urological problems including horseshoe kidney, neurologic bladder, vesico-ureteral reflux and grade 2 hydronephrosis. Orthopedic consultation was made for her deformities. They decided that ambulation unexpected patient\'s knee flexion contractures were helping sitting balance. Because of this operation was not considered. Prognosis, treatment options, strength exercises for upper extremities, skin care were told to parents and patient was taken to follow. CRS is a rare congenital abnormality which is associated with orthopedic deformities, as well as urological, anorectal and cardiac malformations. Treatment requires a multidisciplinary approach. It should not be forgotten that purpose of rehabilitation is not to correct all deformities but increase the functionality of everyday life.