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. (+info)
Microdeletion 22q11 and oesophageal atresia.
Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. 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. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion. (+info)
A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia.
Sacral agenesis is a heterogeneous group of congenital anomalies in which most cases are sporadic but rare familial forms also occur. Although one gene has been mapped to chromosome 7q36 in families with hemisacrum, associated with anorectal atresia and presacral mass, it is clear that the genetic aetiology of these disorders is complex and other genes remain to be discovered. Some years ago, the idea of T (Brachyury) as a candidate gene for sacral agenesis was raised, because tail abnormalities associated with T and the t complex, on mouse chromosome 17, resemble spinal defects seen in man. The recent cloning and mapping of the human T gene prompted us to re-evaluate this idea. T is a transcription factor essential for the normal development of posterior mesodermal structures. Although the sequence and function of T are highly conserved in evolution, our genetic study shows that the coding region of the human gene is highly polymorphic. Three common variable amino acid sites in known functional domains have been identified: Gly356Ser, Asn369Ser, and Gly177Asp. For the latter variant, functional studies have shown that the presence of Asp at residue 177 reduces the stability of T dimer formation. A search for rare mutation of T in 28 selected patients with sacral agenesis/anorectal atresia identified a novel, rare variant in one patient and her mother. This mutation leads to an amino acid change within a conserved activation domain. While the functional significance of this single mutation requires further investigation, we can conclude from our studies that if T has a role in the aetiology of sacral agenesis, its contribution is small in this particular set of patients. However, we cannot exclude a more major role in other forms of sacral defect. (+info)
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis.
Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome. (+info)
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. (+info)
Transperineal ultrasonography in imperforate anus: identification of the internal fistula.
The purpose of this study was to assess the usefulness of transperineal ultrasonography in identifying the internal fistula in cases of imperforate anus. Transperineal ultrasonography was performed in 19 infants (13 neonates and 6 older infants; 13 were male and 6 were female) with imperforate anus to identify the internal fistula. Sagittal plane images were obtained through the anal dimple, and the internal connection of the rectal fistula was traced. The ultrasonographically traced internal fistula was compared with that observed on distal loopography after colostomy or with surgical findings. The internal fistula was identified as a hypoechoic linear tract, containing linear echogenicity in some cases. Of 19 patients, internal fistulas were correctly identified in 16 patients; these were rectourethral (n = 12), rectovaginal (n = 1), rectovestibular (n = 1), rectovesical (n = 1), and rectocloacal (n = 1). In three patients, internal fistulas were incorrectly defined; these cases consisted of rectovestibular (n = 2) and rectovaginal (n = 1) fistulas. Internal fistulas were correctly identified in all of the 13 male patients and in 3 of 6 female patients. Transperineal ultrasonography is an excellent diagnostic modality to define the type of the internal fistula in imperforate anus. (+info)
Urorectal septum malformation sequence: prenatal sonographic diagnosis in two sets of discordant twins.
Urorectal septum malformation sequence (URSMS) is a rare congenital malformation, which includes ambiguous genitalia, a phallus-like structure, imperforate anus, bladder, vaginal and rectal fistulas and Mullerian duct defects. We report two cases of prenatally diagnosed URSMS, both occurring in two sets of discordant twins. To the best of our knowledge, this is the first antenatal description of such an anomaly. The first fetus, one of a set of monochorionic, monoamniotic twins was detected sonographically at 21 weeks of gestation due to an enlarged phallus-like formation. The second fetus, one of dichorionic, diamniotic twins, was suspected of having an abnormally enlarged rectum at 13 weeks of gestation. The diagnosis of URSMS was established at 29 weeks of gestation by showing abnormal female external genitalia, with a dilated bowel that contained echogenic foci due to enterolithiasis. The diagnosis of both cases was confirmed postnatally. Sonographic findings and differential diagnosis are presented. (+info)
A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition.
"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental & growth retardation, malformation of brain & heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36(+4) weeks of pregnancy by caesarian section. Birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes. (+info)