Prune Belly Syndrome
Fused Teeth
Abdominal wall defects: two- versus three-dimensional ultrasonographic diagnosis. (1/19)
We diagnosed 12 cases of abdominal wall defects. The cases diagnosed occurred in 6 fetuses with omphalocele, 3 with gastroschisis, 2 with prune-belly syndrome, and 1 with pentalogy of Cantrell. Except for 1 case of gastroschisis first diagnosed on the basis of three-dimensional ultrasonography at 14 weeks' gestation, all cases were first detected by two-dimensional transabdominal ultrasonography and then reevaluated with three-dimensional ultrasonography using multiplanar and orthogonal plane modes. Although the original diagnosis was accurate on the basis of two-dimensional ultrasonography in 11 of 12 cases, additional information was obtained by three-dimensional scanning in all cases. Our experience suggests that in cases in which abdominal wall defects are first detected by two-dimensional ultrasonographic scanning, the additional information gained by complementary three-dimensional ultrasonographic scanning can be useful for more-efficient counseling and postnatal therapeutic planning. (+info)VACTERL association with Prune-Belly syndrome. (2/19)
We report a term, small for gestational age neonate having full spectrum of VACTERL association. In addition, the neonate also had triad of signs and symptoms associated with prune belly syndrome. The concurrence of these two syndromes could lie in their common etiology of defect in mesodermal differentiation. Such a combination is extremely rare and is generally incompatible with life. (+info)Elective appendicovesicostomy in association with Monfort abdominoplasty in the treatment of prune belly syndrome. (3/19)
OBJECTIVE: To evaluate the role of elective appendicovesicostomy in association with Monfort abdominoplasty to avoid urinary tract infection (UTI) and renal damage in the post-operative follow-up of patients with prune belly syndrome. MATERIALS AND METHODS: We followed 4 patients operated in our institution (UNIFESP) (Monfort, orchidopexy and Mitrofanoff) and compared them to 2 patients treated similarly, but without an appendicovesicostomy, in a second institution (UFBA). We evaluated postoperative clinical complications, UTI and preservation of renal parenchyma. Patients were followed as outpatients with urinalysis, ultrasonography (US) and occasionally with renal scintigraphy. RESULTS: Mean follow-up was 23.5 months. Immediate post-operative course was uneventful. We observed that only one patient with the Mitrofanoff channel persisted with UTI, while the 2 patients used as controls persisted with recurrent pyelonephritis (> 2 UTI year). CONCLUSION: Our data suggest that no morbidity was added by the appendicovesicostomy to immediate postoperative surgical recovery and that this procedure may have a beneficial effect in reducing postoperative UTI events and their consequences by reducing the postvoid residuals in the early abdominoplasty follow-up. However, we recognize that the series is small and only a longer follow-up with a larger number of patients will allow us to confirm our suppositions. We could not make any statistically significant assumptions regarding differences in renal preservation due to the same limitations. (+info)Peritoneal dialysis in children under two years of age. (4/19)
(+info)Postnatal evaluation of infants with an abnormal antenatal renal sonogram. (5/19)
PURPOSE OF REVIEW: Antenatally detected renal abnormalities are frequently encountered. Recommended postnatal evaluation of these infants has evolved to minimize invasive testing while maximizing detection of significant abnormalities. RECENT FINDINGS: There is a low rate of detectable renal abnormalities in infants with a normal postnatal sonogram at 4-6 weeks of age. Routine prophylactic antibiotics are not indicated in infants with isolated antenatal hydronephrosis. Infants with a multicystic dysplastic kidney and a normal contralateral kidney on renal ultrasound do not require further evaluation. Parents of these children should be counseled on symptoms of urinary tract infections to allow prompt diagnosis. SUMMARY: All infants with abnormalities on antenatal sonogram should undergo postnatal evaluation with a sonogram after birth and at 4-6 weeks of age. Further evaluation can be safely limited when the postnatal sonogram is normal at 6 weeks of age. (+info)Prune belly syndrome with pouch colon and absent dermatome. (6/19)
(+info)Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. (7/19)
(+info)Genetic basis of prune belly syndrome: screening for HNF1beta gene. (8/19)
(+info)Prune Belly Syndrome, also known as Eagle-Barrett syndrome, is a rare congenital disorder that primarily affects the urinary and digestive systems, as well as the abdominal wall. The condition is named for its most distinctive feature - a wrinkled, shrunken appearance of the abdomen, similar to a prune.
The medical definition of Prune Belly Syndrome includes the following major characteristics:
1. Absence or severe deficiency of the abdominal muscles: This results in the characteristic "prune belly" appearance and may also lead to respiratory issues due to weakened breathing muscles.
2. Urinary tract abnormalities: These can include dilated urinary tracts, undescended testes, and various kidney defects such as dysplastic (abnormally developed) or hypoplastic (underdeveloped) kidneys. Approximately 1 in 3 patients with Prune Belly Syndrome will develop chronic kidney disease.
3. Gastrointestinal abnormalities: These may include intestinal malrotation, constipation, and a higher risk of developing inguinal hernias.
Prune Belly Syndrome occurs almost exclusively in males, with an estimated incidence of 1 in 30,000 to 40,000 live births. The exact cause of the condition is unknown, but it is believed to result from a combination of genetic and environmental factors during fetal development. Treatment typically involves a multidisciplinary approach, addressing both surgical interventions for urinary tract abnormalities and supportive care for respiratory and gastrointestinal issues.
'Fused teeth', also known as congenitally missing or malformed teeth, is a dental condition where two or more teeth are fused together. This condition is called "gemination" when a single tooth bud fails to completely separate, resulting in two teeth that share a common pulp chamber and root canal. When this occurs with more than one tooth, it is referred to as "twinning." In contrast, "congenital fusion" or "synthesis" refers to the union of two separate tooth buds during development.
Fused teeth can cause cosmetic concerns, difficulty in biting and chewing, and may affect the alignment of surrounding teeth. Depending on the severity and location of the fusion, treatment options may include observation, dental restorations, or even orthodontic or surgical intervention to correct the malocclusion and improve oral function and aesthetics.
Hepatocyte Nuclear Factor 1-beta (HNF-1β) is a transcription factor that plays crucial roles in the development and function of various organs, including the liver, kidneys, pancreas, and genitourinary system. It belongs to the PPAR/RXR heterodimer family of transcription factors and regulates the expression of several genes involved in cell growth, differentiation, metabolism, and transport processes.
In the liver, HNF-1β is essential for maintaining the structural organization and function of hepatocytes, which are the primary functional cells of the liver. It helps regulate the expression of genes involved in glucose and lipid metabolism, bile acid synthesis, and detoxification processes.
Mutations in the HNF-1β gene have been associated with several genetic disorders, such as maturity-onset diabetes of the young (MODY5), renal cysts and diabetes syndrome (RCAD), and congenital abnormalities of the kidneys and urinary tract (CAKUT). These conditions often present with a combination of liver, pancreas, and kidney dysfunctions.