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Journal of Medical Genetics Feb 1999Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies,... (Review)
Review
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.
Topics: Abnormalities, Multiple; Anus, Imperforate; Chromosomes, Human, Pair 16; Developmental Disabilities; Diagnosis, Differential; Ear, External; Eye Abnormalities; Female; Genetic Variation; Hearing Loss, Sensorineural; Heart Defects, Congenital; Humans; Male; Phenotype; Polydactyly; Scoliosis; Syndrome; Transcription Factors; Urogenital Abnormalities
PubMed: 10051003
DOI: No ID Found -
Medical Examiner (Chicago, Ill.) May 1874
PubMed: 37557581
DOI: No ID Found -
Medical Examiner (Philadelphia, Pa.) Jan 1848
PubMed: 38120898
DOI: No ID Found -
Children (Basel, Switzerland) Jun 2022Cloaca is a rare, complex malformation encompassing the genitourinary and anorectal tract of the female in which these tracts fail to separate in utero, resulting in a... (Review)
Review
Cloaca is a rare, complex malformation encompassing the genitourinary and anorectal tract of the female in which these tracts fail to separate in utero, resulting in a single perineal orifice. Prenatal sonography detects a few cases with findings such as renal and urinary tract malformations, intraluminal calcifications, dilated bowel, ambiguous genitalia, a cystic pelvic mass, or identification of other associated anomalies prompting further imaging. Multi-disciplinary collaboration between neonatology, pediatric surgery, urology, and gynecology is paramount to achieving safe outcomes. Perinatal evaluation and management may include treatment of cardiopulmonary and renal anomalies, administration of prophylactic antibiotics, ensuring egress of urine and evaluation of hydronephrosis, drainage of a hydrocolpos, and creation of a colostomy for stool diversion. Additional imaging of the spinal cord and sacrum are obtained to plan possible neurosurgical intervention as well as prognostication of future bladder and bowel control. Endoscopic evaluation and cloacagram, followed by primary reconstruction, are performed by a multidisciplinary team outside of the neonatal period. Long-term multidisciplinary follow-up is essential given the increased rates of renal disease, neuropathic bladder, tethered cord syndrome, and stooling issues. Patients and families will also require support through the functional and psychosocial changes in puberty, adolescence, and young adulthood.
PubMed: 35740825
DOI: 10.3390/children9060888 -
American Journal of Medical Genetics.... Nov 2013MED12: is a member of the large Mediator complex, which has a critical and central role in RNA polymerase II transcription. As a multiprotien complex, Mediator regulates... (Review)
Review
MED12: is a member of the large Mediator complex, which has a critical and central role in RNA polymerase II transcription. As a multiprotien complex, Mediator regulates signals involved in cell growth, development, and differentiation, and it is involved in a protein network required for extraneuronal gene silencing and also functions as a direct suppressor of Gli3-dependent Sonic hedgehog signaling. This may explain its role in several different X-linked intellectual disability syndromes that share some overlapping clinical features. This review will compare and contrast four different clinical conditions that have been associated with different mutations in MED12, which is located at Xq13. To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat-Kievit-Brunner type, or OSMKB), and one large family with profound X-linked intellectual disability due to a novel c.5898insC frameshift mutation that unlike the other three syndromes, resulted in affected female carriers and truncation of the MED12 protein. It is likely that more MED12 mutations will be detected in sporadic patients and X-linked families with intellectual disability and dysmorphic features as exome sequencing becomes more commonly utilized, and this overview of MED12-related disorders may help to correlate MED12 genotypes with clinical findings.
Topics: Agenesis of Corpus Callosum; Anus, Imperforate; Child; Child, Preschool; Constipation; Craniofacial Abnormalities; Facies; Female; Genes, X-Linked; Genetic Diseases, Inborn; Humans; Male; Marfan Syndrome; Mediator Complex; Mental Retardation, X-Linked; Muscle Hypotonia; Mutation; Phenotype
PubMed: 24123922
DOI: 10.1002/ajmg.a.36183 -
Children (Basel, Switzerland) May 2023Up to 79% of patients with anorectal malformations (ARMs) experience constipation and/or soiling after a primary posterior sagittal anoplasty (PSARP) and are referred to... (Review)
Review
Up to 79% of patients with anorectal malformations (ARMs) experience constipation and/or soiling after a primary posterior sagittal anoplasty (PSARP) and are referred to a bowel management program. We aim to report the recent updates in evaluating and managing these patients as part of the manuscript series on the current bowel management protocols for patients with colorectal diseases (ARMs, Hirschsprung disease, functional constipation, and spinal anomalies). The unique anatomic features of ARM patients, such as maldeveloped sphincter complex, impaired anal sensation, and associated spine and sacrum anomalies, indicate their bowel management plan. The evaluation includes an examination under anesthesia and a contrast study to exclude anatomic causes of poor bowel function. The potential for bowel control is discussed with the families based on the ARM index calculated from the quality of the spine and sacrum. The bowel management options include laxatives, rectal enemas, transanal irrigations, and antegrade continence enemas. In ARM patients, stool softeners should be avoided as they can worsen soiling.
PubMed: 37238394
DOI: 10.3390/children10050846 -
Journal of Postgraduate Medicine 1995Duplications of the alimentary tract are of a great rarity, particularly so in the rectum. Because of its rarity, the difficulty of making a correct diagnosis and of... (Review)
Review
Duplications of the alimentary tract are of a great rarity, particularly so in the rectum. Because of its rarity, the difficulty of making a correct diagnosis and of selection of proper approach for treatment, this entity bears a special significance. The present case report deals with a female newborn who presented with imperforate anus and a rectovestibular fistula and a mass prolapsing at the introitus. Complete excision of the mass was carried out through the perineal approach and the child then underwent, a PSARP for the correction of the rectal anomaly. Histology confirmed the mass to be a rectal duplication.
Topics: Abnormalities, Multiple; Anus, Imperforate; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infant, Newborn; Rectovaginal Fistula; Rectum; Treatment Outcome
PubMed: 10707712
DOI: No ID Found -
Annals of Surgery Feb 1958
Topics: Anal Canal; Anus, Imperforate; Humans
PubMed: 13498641
DOI: 10.1097/00000658-195802000-00009 -
Proceedings of the Royal Society of... May 1931
PubMed: 19988159
DOI: No ID Found -
Current Pediatric Reviews 2019Congenital Pouch Colon (CPC) is an anorectal anomaly with an incidence of 3.5:1 in males and females, respectively. We have earlier reported CPC to be quite prevalent in... (Review)
Review
BACKGROUND
Congenital Pouch Colon (CPC) is an anorectal anomaly with an incidence of 3.5:1 in males and females, respectively. We have earlier reported CPC to be quite prevalent in north Indian tertiary care centers.
OBJECTIVE
In this article, we deliberate on the possible causes associated with CPC bringing the manifestation of the disease. In addition, we throw insights on the effective role of this congenital anomaly in Colon and provide systems genomic evaluation by comparing our recent analysis to that of Colon and Ileum based on Next-Generation Sequencing (NGS) studies.
CONCLUSION
In this commentary article, we argue that a host of epigenetic factors could be the reason why the disease is manifested in colon alone. We further hypothesize on the few unmet challenges linking epigenetics to understand the genetic variants.
Topics: Anorectal Malformations; Child; Colon; Digestive System Surgical Procedures; Fecal Incontinence; High-Throughput Nucleotide Sequencing; Humans; Ileum; Postoperative Complications; Exome Sequencing
PubMed: 31465285
DOI: 10.2174/1573396315666190829155930