Cases reported "Anus, Imperforate"

Filter by keywords:



Filtering documents. Please wait...

1/7. A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

    Partial absence of the sacrum is a rare congenital defect that also occurs as an autosomal-dominant trait, whereas imperforate/ectopic anus is a relatively common malformation, usually observed in multiple congenital anomalies syndromes. We report on a girl born to healthy consanguineous parents (first cousins once removed) with anal imperforation and associated rectovaginal fistula and partial sacral agenesis. Facial dysmorphism included a high forehead, epicanthic folds, downslanting palpebral fissures, hypertelorism and a depressed nasal root. brain MRI showed a bilateral opercular dysplasia with a unilateral (right) pachygyria; MRI and X-ray imaging of the spine disclosed a tethered cord associated with partial sacral agenesis. She showed a moderate developmental delay. Ophthalmologic examination evidenced bilateral microphthalmos and relative microcornea. Cytogenetic studies in our patient disclosed a pure de novo 6q25.3 --> qter deletion. By genotype analysis, we detected in our patient a maternal allele loss encompassing D6S363 and D6S446. Pure distal 6q deletion is a rare anomaly, reported in association with sacral/anorectal malformations (sacral agenesis, anal imperforation/ectopia) and never with cortical dysplasia. Pooling deletion mapping information in patients with pure terminal and interstitial 6q deletion allowed us to define a critical region spanning 0.3 Mb between the markers D6S959 and D6S437 for sacral/anal malformations. We hypothesize that haploinsufficiency for a gene within the deleted region may impair normal development of caudal structures, possibly acting on the notochordal development.European Journal of Human genetics (2006) 14, 971-974. doi:10.1038/sj.ejhg.5201635; published online 17 May 2006.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

2/7. Sacral hemangiomas and multiple congenital abnormalities.

    Five infants with sacral hemangiomas and a particular constellation of congenital abnormalities are described. Three of the five infants had an imperforate anus associated with a fistula. Three of the five had renal anomalies; four had bony abnormalities of the sacrum, and three of these also had a lipomeningomyelocele. Four had skin tags, three of which were in the genital and sacral areas. Two of the five also had abnormalities of the external genitalia. This constellation of defects associated with a sacral hemangioma has not been, to our knowledge, elaborated previously.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

3/7. Covered anus with anocutaneous fistula: the muscular sphincters.

    A rare specimen of a covered anus with anocutaneous fistula obtained from a newborn female baby was subjected to macroexamination and microexamination to determine the anatomy of the sphincters and the levatores musculature. The internal sphincter and the deep voluntary sphincters, albeit slightly modified, were well developed but the sphincters in the perineum were absent or rudimentary. The pelvic muscles were present even in the absence of the sacrum up to and including the second sacral vertebra.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

4/7. MRI and radiographic findings in Currarino's triad.

    Currarino's triad is a rare complex of a congenital sacral bony abnormality, anorectal malformation and a presacral mass. Intractable constipation since birth is the leading symptom of this triad, which follows an autosomal dominant mode of heredity. We report conventional radiographic and MR findings in one family consisting of a mother and her two daughters. In all three cases, radiography revealed an abnormality of the os sacrum, the so-called scimitar sacrum. MR examination, undertaken next in our institution, was applied with T1-, T2- and proton density weighted sequences in all three orientations before and after i. v. application of gadolinium diethylene-triamine-pentaacetic acid (Gd-DTPA). In two patients we were able to diagnose the complete form of the triad and in one patient an incomplete form. In any case of a radiographically diagnosed scimitar sacrum in combination with constipation, Currarino's triad should be considered. MRI, as the method of choice, should be the next step to detect a presacral mass and any anomalies of the spinal canal. The importance of early recognition lies in the high morbidity and mortality rates resulting from this disorder.
- - - - - - - - - -
ranking = 3
keywords = sacrum
(Clic here for more details about this article)

5/7. Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies.

    We describe an infant who died shortly after birth, with Potter sequence and prune belly anomaly, omphalocele, single umbilical artery, imperforate anus and micropenis with empty scrotum. Fetopathological examination revealed multiple vertebral anomalies with rudimentary sacrum, hypoplasia o2 the first metacarpus on right hand, complex cardiovascular anomalies, malrotation of intestines, a dilated and blind-ending cloaca to which both ureters and a bicornuate uterus were connected, normal ovaries, hypoplastic kidneys with cystic renal dysplasia. The descending colon ended blindly and showed a fistulous communication with the cloaca. Chromosome studies on peripheral blood lymphocytes and fibroblasts of a skin biopsy demonstrated a normal 46,XX karyotype. The possible mechanisms underlying the concurrence of a caudal developmental field defect with female pseudo-hermaphroditism and additional features of the VACTERL association are discussed.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

6/7. A novel embryogenetic mechanism for Currarino's triad: inadequate dorsoventral separation of the caudal eminence from hindgut endoderm.

    Currarino's triad is a congenital malformation involving the combination of anorectal stenosis, a presacral mass (most often a teratoma or ventral menigocele) and an anterior sacral bony defect (scimitar sacrum). Current theories regarding its embryogenesis are difficult to reconcile with our current understanding of caudal neuraxial and hindgut development. Caudal neuraxial structures develop from the caudal eminence (or tail bud), which normally separates from the hindgut endoderm concurrent with ingrowth of the posterior notochord during late gastrulation. We describe the first reported association of Currarino's triad with a caudal split cord malformation. It has previously been proposed that split cord malformations and related 'complex dysraphic malformations' involving abnormalities of one or more of the three primary germ layers arise through disordered midline axial integration during gastrulation. The presence of a split cord malformation in a patient with Currarino's triad suggests that the two disorders share a common embryogenetic pathway. We propose that the malformations of Currarino's triad arise through a failure of dorsoventral separation of the caudal eminence from the hindgut endoderm during late gastrulation.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

7/7. Caudal regression syndrome: MR appearance.

    This article reports a case of caudal regression syndrome with hypoplasia of the sacrum, accompanied by an imperforate anus with ano-vestibular fistula. Magnetic resonance images showed a characteristic wedge-shaped cord terminus and the separation of anterior and posterior spinal roots at the level of the cauda equina.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)


Leave a message about 'Anus, Imperforate'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.