Disease relevance of Anus, Imperforate

• Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus [1].
• The Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome presenting as an association of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss [2].
• A case of tetrasomy 22pter leads to q11 with ocular hypertelorism, downward slanting palpebral fissures, total anomalous pulmonary venous return, and anal atresia is described [3].
• Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome [4].
• In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus [5].

Psychiatry related information on Anus, Imperforate

• The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus [6].

High impact information on Anus, Imperforate

• Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS [7].
• Defects in the first pathway explain imperforate anus, vaginal septum, genital hypoplasia, and micropenis reported in humans with p63 mutations [8].
• Folic acid supplementation and risk for imperforate anus in China [9].
• PURPOSE: Urinary tract malformations have been described in up to 50% of patients with imperforate anus but genital anomalies have been less well analyzed in the same patient population [10].
• We report a case of bilateral ureteral triplication associated with crossed ectopic fused kidneys, vesicoureteral reflux and the VACTERL syndrome (Vertebral defects, Anal atresia, Cardiovascular anomalies, Tracheo-Esophageal fistula, Radial and renal anomalies, and Limb defects) [11].

Chemical compound and disease context of Anus, Imperforate

• Three of the four had glucose intolerance, and one was born with an imperforate anus [12].
• We report the use of MRI as a tool to plan surgical procedures in patients with imperforate anus, imaging the pelvis and lumbosacral spine in the sagittal, transverse, and coronal planes [13].
• Maternal serum alpha-fetoprotein in fetal anal atresia and other gastro-intestinal obstructions [14].
• Effect of loperamide on faecal control after rectoplasty for high imperforate anus [15].
• A new polyurethane anal plug in the treatment of incontinence after anal atresia repair [16].

Biological context of Anus, Imperforate

• BACKGROUND: Partial deletion of the long arm of the chromosome 13 is a rare chromosomal aberration and may present with microcephaly, colobomata, microphthalmia, distal limb and digital anomalies, cardiac defects, brain and urogenital malformations, anal atresia and growth restriction [17].

Anatomical context of Anus, Imperforate

• Four of the probands and affected relatives had manifestations that further expanded the phenotype: gustatory lacrimation, hypospadias, imperforate anus, osteosclerosis, microcephaly, hypodontia, congenital vocal cord paresis, and congenital incomplete fixation of the transverse colon [18].
• The most common abnormalities associated with vertebral malformation were cranial nerve palsy, radial hypoplasia, club feet, dislocated hip, Sprengel's deformity, imperforate anus, hemifacial microsomia, and renal and cardiac anomalies [19].
• We report two apparently unrelated children who had unusual combinations of such findings in association with other, predominantly midline, anomalies (imperforate anus, extra ribs, uterus didelphys) [20].
• One brother has anal atresia; the other had a pulmonary artery atresia, VSD, ASD, and an over-riding aorta [21].
• Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome [22].

Gene context of Anus, Imperforate

• Ankyloblepharon filiforme adnatum and imperforate anus: a new family with apparently autosomal dominant inheritance [23].
• Lowe syndrome with anal atresia: a possible variant of OCRL [24]?
• Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness [25].
• The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development [26].
• Surprisingly, anomalies were sometimes limited to a single organ and included some relatively common isolated defects such as a ventricular septal defect, hypospadias, imperforate anus, inguinal hernia, and clubfoot [27].

References