Although renal and cardiac malformations are commonly seen in Turner syndrome (TS), anorectal malformations, multicystic dysplastic kidney and interrupted aortic arch are quite rare in TS. A newborn with TS with three quite rare congenital malformations (imperforate anus/anal atresia associated with rectovestibular fistula, interrupted aortic arch, and multicystic dysplastic kidney) is presented.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Hypothyroidism is not a recognized feature of TBS. We are reporting a case of TBS with hypothyroidism, a rare association.

Omphalocele-exstrophy of the bladder-imperforate anus-spinal defect (OEIS) complex is a rare constellation of clinical abnormalities with wide phenotypic presentation. We describe a case of a preterm neonate with OEIS complex with acute renal failure, and the challenges in diagnosis and management of this patient as renal failure can be a multifactorial process when encountered with this rare c...

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. (J Med Ge...

INTRODUCTION Human tails and pseudotails are rare sacrococcygeal lesions that are associated with a wide variety of anomalies and syndromes. Anorectal malformations are also relatively uncommon congenital defects that often occur in conjunction with syndromes or other congenital abnormalities. The anomalies associated with both disorders determine the timing and approach to surgical correction....

Objective: We evaluated the clinical efficacy of a one-stage modified semi-posterior sagittal anorectoplasty (modified Peña procedure) for radical treatment of female imperforate anus with a rectovesibula fistula. Methods: A total of 89 female neonates who had imperforate anus with a rectovesibula fistula and underwent treatment in our hospital between January 2003 and December 2013 were enroll...

The rectum is the last live inches of large intestine continuous above with the pelvic colon and below with annal canal. Its upper twothirds are covered with peritoneum in front and sides, and in front only in its lower part. Above and anteriorly the rectum is related to rectovesical pouch in males or recto-uterine pouch in females. Below this it is in relation with a portion of the bladder, se...

Commonly affected anomalies are anorectal malformations (imperforate anus, anteriorly placed anus, anal stenosis), hand malformations (preaxial polydactyly, triphalangeal thumb, bifid thumb), external ear malformations (microtia, “satyr” or “lop” ear, preauricular tag or pits) with sensorineural hearing loss, and renal malformations. In addition, intellectual disability, learning problems, and ...