Cryptorchidism in boys with imperforate anus

In a retrospective study of the case reports of 136 boys who were operated on for an imperforate anus and who survived at least 18 months, cryptorchidism was the most common associated anomaly, involving 26 cases (19%). The higher the level of the anorectal malformations, the higher was the incidence of cryptorchidism. The incidence of renal and ureteric malformations and dysplasias showed a parallel tendency. The incidence of vertebral malformations and dysplasias in the T10-S5 area was low among patients with a covered anus or a perineal fistula. Cryptorchidism was found associated with urological and with T10-S5 vertebral malformations and dysplasias. Recognition of this association is probably new. The histopathological findings of testicular biopsy specimens and the location of the undescended testes in patients with an imperforate anus showed the same pattern as seen in undescended testes from patients with cryptorchidism only. These findings, together with the existing literature on the subject, indicate that further studies on the association of cryptorchidism, urological, and T10-S5 vertebral malformations and dysplasias may be very helpful toward a better understanding of cryptorchidism in general.     

Dysraphic myelodysplasias associated with urogenital and anorectal anomalies: prevalence and types seen with MR imaging

OBJECTIVE: The purpose of this study was to determine by MR imaging the prevalence and types of dysraphic abnormalities of the spinal cord (i.e., myelodysplasias) associated with urogenital and anorectal malformations of childhood. MATERIALS AND METHODS: Since 1987, 92 patients with imperforate anus complex, cloacal malformation, and cloacal exstrophy have had MR imaging as a screening examination for occult dysraphic myelodysplasia. The prevalence and types of myelodysplasia were determined for each group. RESULTS: The prevalence of dysraphic myelodysplasia in each group of children was 17% (1/6) for low imperforate anus (ectopic anus), 34% (11/32) for high imperforate anus (with fistulization), 46% (19/41) for cloacal malformation, and 100% (13/13) for cloacal exstrophy. The most common abnormalities in each group were tethered cord with intradural or filar lipoma in imperforate anus; low-placed or dysplastic conus medullaris and tethered cord with lipoma or myelolipoma in cloacal malformation; and lipomyelocele, lipomyelomeningocele, or lipomyelocystocele in cloacal exstrophy. CONCLUSION: Our results show that the prevalence of myelodysplasia as seen on MR imaging is high in patients with urogenital and anorectal anomalies.     

The failed anoplasty: successful outcome after reoperative anoplasty and sigmoid resection

BACKGROUND/PURPOSE: Children with anorectal malformations often have less than optimal results after repair. The authors report on five patients (ages 3 to 17 years) born with imperforate anus and treated with anoplasty as a newborn. At presentation, all patients were completely incontinent of stool. None had ever experienced voluntary bowel movements, and all wore diapers continuously. METHODS: Perineal examination with the nerve stimulator showed the muscle complex was largely intact with good contraction, but the neoanus was outside of the muscle complex. Contrast enema showed massive dilation of the rectosigmoid colon and fecal impaction. A tethered spinal cord was excluded by magnetic resonance imaging (MRI). We treated these patients with a combined reoperative anoplasty via the posterior sagittal approach and sigmoid resection. RESULTS: Within 6 months after the procedure, all patients had achieved complete continence. They had from one to three voluntary bowel movements per day without soiling. CONCLUSIONS: Children with severe constipation and fecal incontinence after anoplasty should undergo evaluation by a surgeon. If examination shows a reasonably intact muscle complex and correctable anatomic defects, an excellent result can be achieved with appropriate reoperation.     

Tethered cord and associated vertebral anomalies in children and infants with imperforate anus: evaluation with MR imaging and plain radiography

PURPOSE: To evaluate in children and infants with imperforate anus the prevalence and types of occult myelodysplasia that may result in tethered cord and the association of these lesions with vertebral anomalies. MATERIALS AND METHODS: Records and images were retrospectively reviewed in 86 patients who underwent spine magnetic resonance imaging and had either low-level imperforate anus (n = 30), intermediate-level imperforate anus (n = 15), or high-level imperforate anus (n = 41). RESULTS: Thirty-one of 86 patients (36%) had occult myelodysplasia suggestive of tethered cord (27% of all patients with low-, 33% of all patients with intermediate-, and 44% of all patients with high-level lesions). Of these 31 patients, 16(52%) were asymptomatic, 24, (77%) had a thickened fatty filum, 13 (42%) had normal conus position, and 23 (74%) had vertebral anomalies. Twenty-four of the 31 patients (77%) underwent surgical untethering. CONCLUSION: A substantial number of patients with all types of imperforate anus have occult myelodysplasia that may necessitate surgical intervention, including those patients with normal spine radiographs.     

Variations in the bladder exstrophy complex associated with large omphalocele

Two newborns with a large omphalocele associated with the bladder exstrophy complex are presented. In 1 case the omphalocele was combined with a musculoskeletal defect and imperforate anus with an anovulvar fistula. The other patient had a musculoskeletal deformity and a duplicated bladder with exstrophy. Surgical treatment was successful in both cases.     

Continence in patients who undergo posterior rectal flap anorectoplasty

PURPOSE: The authors report the postoperative follow-up results of patients who underwent posterior rectal flap anorectoplasty (PRFA), with emphasis in fecal continence. Variables considered on each patient were sex, presence of fistula, location of the fistula, severity of the defect during the correction, sacral condition, dysraphism, and age at surgery. METHODS: Continence was rated using the Pe?a method and defecogram. The authors studied 20 patients (17 boys and three girls). RESULTS: Postoperatively, normal continence was found in 18 patients. Of the two remaining (boys), one had grade II spotting (sacrum agenesia and uretrobulbar fistula) and the other had grade II staining; this patient had the most severe malformation requiring an abdominoperineal approach. All of the defecograms showed complete emptying of the rectum. No recurrent fistulas occurred. CONCLUSIONS: The posterior rectal flap anorectoplasty is a new technique that takes into consideration all known factors that contribute to continence. This initial report confirms that this technique results in excellent continence for patients with imperforate anus.     

Rectovestibular fistula with absent vagina: a unique anorectal malformation

BACKGROUND/PURPOSE: A very unusual anorectal defect consisting of a vestibular fistula and absent vagina is presented. Only two previous isolated reports were found in the literature describing a repair that included both abdominal and perineal approach. The authors present another technical alternative that allows the repair via posterior sagittal. METHODS: Of 1,007 patients with anorectal malformations analyzed, eight female cases shared the common anatomic features of a vestibular fistula and absent vagina. What appeared to be the vagina was actually the rectal orifice ending in the vestibule, and the vagina was absent. With the posterior sagittal approach, the distal rectum was used to create the neovagina. The proximal rectum was mobilized and placed within the limits of the sphincter mechanism. Two of the eight patients were born with a patent upper third remnant of the vagina. In one case, the remnant was anastomosed to the neovagina at the time of colostomy closure; in the second one, the anastomosis was performed during the main repair. RESULTS: Four patients are continent of urine and have voluntary bowel movements. One patient is younger than 3 years and therefore has not been evaluated. One patient has a very poor sacrum and therefore is incontinent. One patient had a primary repair elsewhere and therefore is excluded, and another patient is lost to follow-up. One patient is already sexually active. CONCLUSIONS: It is mandatory to perform a meticulous inspection of the perineum in female patients with anorectal malformations to detect unusual defects. Also, a high index of suspicion is necessary to establish the diagnosis of this defect and avoid an inadequate treatment. The posterior sagittal approach represents another alternative to treat these defects without the need for a laparotomy.     

Cloaca, the most severe degree of imperforate anus: experience with 195 cases

OBJECTIVE: To provide a follow-up of 195 patients with cloacal malformations seen by the author from 1959 to 1998. SUMMARY BACKGROUND DATA: Cloaca, which occurs in approximately 1 of 50,000 births, is the most complex type of imperforate anus with confluence of the rectum, vagina, and bladder in a urogenital sinus. Functional results for the bowel, the genital tract, and the urinary tract were formerly poor. Cloacal exstrophy, which is an even more complex spectrum of malformations, was uniformly fatal until 1960. In addition to imperforate anus, these babies have an omphalocele, two exstrophic bladders, between which there is an open cecum, and a blindly ending colon hanging down in the pelvis from the cecum. Although both of these diagnoses contain the word "cloaca," which is Latin for sewer, they are really two separate entities in terms of surgical management. Cloaca and cloacal exstrophy in most cases are very different anatomic problems. However, there are variants that are like a hybrid, which is the rationale for reporting together an experience with both entities. METHODS: Records were reviewed of 154 patients with cloaca and 41 patients with cloacal exstrophy to assess anorectal function, urinary continence, and sexual function where available. RESULTS: Follow-up was available in 141 cloaca patients: 82 have spontaneous bowel movements and satisfactory control, 38 use enemas to evacuate, 9 have a colostomy, 7 have fecal soiling, and 5 are too recently operated to evaluate. Regarding urinary control, 83 void spontaneously, 40 catheterize to empty, 4 have urinary diversion, 1 has a continent diversion, 5 patients are wet, and 8 are too recently operated to judge. Twenty-four patients are now adults, 17 of who have experienced coitus and 7 have not. Seven have had babies, all except one by cesarean section. Results of surgery for cloacal exstrophy are not as good, but are encouraging nonetheless for an anomaly that was uniformly fatal before 1960. Of the 41 cloacal exstrophy patients being followed, 7 have not undergone surgery. Fifteen have a colostomy; 19 had pull-through of the colon, but 3 were subsequently reversed for fecal incontinence. Most depend on enemas to evacuate. Urinary dryness was attained in 30 patients, usually by intermittent catheterization of the bladder, which was augmented with small bowel or stomach or both. Only three void voluntarily. Fifteen of the completed long-term patients wear no bag. Only three of the completed patients wear two bags. The rest have one bag. CONCLUSIONS: Imperforate anus and associated malformations in cloaca and cloacal exstrophy are not hopeless problems. A reasonable lifestyle can be achieved for most of these children with comprehensive surgical planning.     

Effects of nicotine, pilocarpine, and tetrahydroaminoacridine on hippocampal theta waves in freely moving rabbits

Fifty-eight patients with anorectal malformations were closely followed up for postoperative anorectal function. Constipation was noted shortly after anorectoplasty in 10 of 28 low anomalies (35.7%) treated with limited sagittal anorectoplasty (LSARP), in 18 of 25 high or intermediate anomalies (72.0%) treated with posterior sagittal anorectoplasty (PSARP), but in none of 5 high or intermediate anomalies treated with Rehbein's mucosa-stripping endorectal pull-through and anterior sagittal perineal anorectoplasty (R-ASAP). The constipation resolved mostly within 1-2 years after repair under conservative management, but persisted beyond 2 years after repair in 3/25 children with LSARP and 10/25 with PSARP. Anal soiling was noted in 1/23 (4.3%) LSARP and 6/22 (27.3%) PSARP patients, but normal anorectal function was attained in 20/23 LSARP (86.9%) and 11/12 PSARP patients (50.0%) by the time of toilet training. Manometric studies disclosed that the resting rectal pressure (RRP) was lower and the anorectal pressure gradient (ARPG) higher in the constipated than the non-constipated children, while the RRP was higher and the ARPG lower in the soiled than the non-soiled patients. The ARPG after R-ASPA was close to that of non-constipated and in between that of the constipated and soiled patients. The rectoanal sphincter inhibitory reflex was not related to defecation status or surgical procedures, but showed a tendency toward positive conversion with time or after exclusion of esctatic terminal bowel in the severely constipated. It is concluded that anorectal function in patients with repaired imperforate anus seems to be more affected by the extent of endopelvic dissection than by preservation of the terminal bowel or sphincter muscles.     

Associations between congenital malformations and childhood cancer. A register-based case-control study

This report describes a population-based case-control study that aimed to assess and quantify the risk of children with congenital malformations developing cancer. Three sources of data were used: the Victorian Cancer Register, the Victorian Perinatal Data Register (VPDR) and the Victorian Congenital Malformations/Birth Defects Register. Cases included all Victorian children born between 1984 and 1993 who developed cancer. Four controls per case, matched on birth date, were randomly selected from the VPDR. Record linkage between registers provided malformation data. A matched case-control analysis was undertaken. Of the 632 cancer cases, 570 (90.2%) were linked to the VPDR. The congenital malformation prevalence in children with cancer was 9.6% compared with 2.5% in the controls [odds ratio (OR) 4.5, 95% CI 3.1-6.7]. A strong association was found with chromosomal defects (OR=16.7, 95% CI 6.1-45.3), in particular Down's syndrome (OR=27.1, 95% CI 6.0-122). Most other birth defect groups were also associated with increased cancer risk. The increased risk of leukaemia in children with Down's syndrome was confirmed, and children with central nervous system (CNS) defects were found to be at increased risk of CNS tumours. The report confirms that children with congenital malformations have increased risks of various malignancies. These findings may provide clues to the underlying aetiology of childhood cancer, as congenital malformations are felt to be a marker of exposures or processes which may increase cancer risk. The usefulness of record linkage between accurate population-based registers in the epidemiological study of disease has also been reinforced.     

Anorectal malformations

The posterior sagittal approach was used to treat 792 patients with anorectal malformations. From these, 387 cases were evaluated 6 months to 13 years later. Voluntary bowel movements were present in 74.3% of the entire series. When distributed by diagnosis, the percentages varied: 100% in patients with rectal atresia and perineal fistula; 93.2% in those with vestibular fistula; 80.9% in those with bulbar fistula; 71.1% in those with cloacas; 66.7% in those with prostatic fistula, and 15.8% in those with bladder-neck fistula. Soiling was present in 57% of all cases. Patients with voluntary bowel movements and no soiling were classified as totally continent; 40.8% of the series belong to this group. Distributed by diagnosis, it varied from 100% in cases with rectal atresia or perineal fistula, 65.9% in those with vestibular fistula, 34% in those with bulbar fistula, 31.6% in those with cloacas, 26.3% in those with prostatic fistula; none of the patients with vaginal fistula or bladder-neck fistula was totally continent. Constipation was detected in 43.1% of all patients, and was more frequent in those with simple defects. Urinary incontinence was found in 19% of patients with cloacas who had a common channel shorter than 3 cm, and in 68.8% of the patients who had longer common channels. Other patients suffered from urinary incontinence only when they had an absent sacrum or other severe bladder or urethral congenital defects. An accurate diagnosis and evaluation of the sacrum allows us to establish, with reasonable accuracy, functional prognosis in most children. Those with functional disorders must be treated properly medically, to improve their quality of life.     

Diagnostic value of procalcitonin: the influence of cardiopulmonary bypass, aprotinin, SIRS, and sepsis

We report the perinatal findings in a male fetus with congenital megacystis and anorectal malformations. A 17-year-old primipara was referred to our department at 13 weeks of gestation for management of a 4.6 x 3.8 cm massive intra-abdominal fetal mass consistent with megacystis. The fetal thorax was severely compressed. We used a 22-gauge needle to perform intrauterine fetal vesicocentesis, removing 30 ml of fetal urine, decreasing the fetal bladder diameter/crown-rump length ratio from 65.7 to 17%. Cytogenetic analysis revealed a 46, XY karyotype. Intermittent bladder aspiration was performed weekly from 13 to 20 weeks of gestation and every 2-3 weeks from 21 to 35 weeks of gestation for the purpose of decompression. Mild dilation of both renal pelves was noted beginning at 20 weeks of gestation, however, neither progression of hydronephrosis nor development of oligohydramnios was noted. At 36 weeks of gestation, a live male neonate was delivered with a normal phallus, duodenal atresia, mild congenital heart defects, a distended bladder, bilateral hydronephrosis, megaureters, imperforate anus with rectovesical fistula, cryptorchidism and bilateral vesicoureteric reflux. The postnatal renal function was normal. He underwent serial operations including colostomy, anoplasty with repair of rectovesical fistula, duodeno-duodenostomy, bilateral re-implantation of ureters, orchiopexy and reduction cystoplasty. At 20 months of age, the child had normal renal function. The intravenous pyelogram showed normal functional kidneys, moderate megaureters and moderate megacystis. He underwent clean intermittent catheterization for residual urine. The recurrent urinary tract infections were under control.     

Association of Down's syndrome and testicular cancer

PURPOSE: We present additional clinical evidence for the suspected association of Down's syndrome and testicular germ cell tumors. MATERIALS AND METHODS: Four cases of Down's syndrome and testicular cancer are reported. The literature was reviewed for previous cases and analysis regarding common features. RESULTS: The 4 patients were 29 to 35 years old and had clinical stage I seminoma of the testis. Two patients received prophylactic abdominal radiotherapy, 1 is being followed and 1 received adjuvant carboplatin treatment. There was no relapse at followup of 1 to 8 years. One patient also had contralateral cryptorchidism. A total of 16 cases with the association of Down's syndrome and testicular germ cell cancer was documented previously. CONCLUSIONS: Evidence for the suspected association of Down's syndrome and testicular cancer is now accumulating. Etiologically it is suspected that, along with genetically determined malformations in many other organs in trisomy 21, the gonads also undergo maldevelopment, thus creating the conditions for step 1 of germ cell tumor oncogenesis in utero. Physicians caring for patients with Down's syndrome should be aware of the possible association with testicular neoplasms.     

Sacral agenesis and caudal spinal cord malformations

Thirty-three children and one adult with sacral agenesis (SA) were studied by computed tomographic myelography and/or magnetic resonance imaging and were monitored for a mean period of 4.7 years. Four children had the OEIS (concurrent omphalocele, cloacal exstrophy, imperforate anus, and spinal deformities) complex, and three others had VATER (vertebral abnormality, anal imperforation, tracheoesophageal fistula, and renal-radial anomalies) syndrome. All patients shared some of the characteristic features of SA, namely, a short, intergluteal cleft, flattened buttocks, narrow hips, distal leg atrophy, and talipes deformities. Neurologically, lumbosacral sensation was much better preserved than the motor functions, and urinary and bowel symptoms were universal. The level of the vertebral aplasia was correlated with the motor but not with the sensory level. The important neuroimaging findings of SA were as follows: 1) 12 patients (35%) had nonstenotic, tapered narrowing of the caudal bony canal, and 2 patients had hyperostosis indenting the caudal thecal sac; 2) 16 patients (47%) had nonstenotic, tapered narrowing and shortening of the dural sac, but 3 patients (9%) had true, symptomatic dural stenosis, in which the cauda equina was severely constricted by a pencil-sized caudal dural sac; 3) the coni could be divided into those ending above the L1 vertebral body (Group 1, 14 patients) and those ending below L1 (Group 2, 20 patients). Thirteen of 14 Group 1 coni were club or wedge-shaped, terminating abruptly at T11 or T12, as if the normal tip was missing. All 20 Group 2 coni were tethered: 13 were tethered by a thick filum; 2 were extremely elongated and had a terminal hydromyelia; 3 were terminal myelocystoceles; and 2 were tethered by a transitional lipoma. High blunt coni were highly correlated with high (severe) sacral malformations (sacrum ending at S1), but low-lying tethered coni were highly correlated with low sacral malformations (S2 or lower pieces present).(ABSTRACT TRUNCATED AT 400 WORDS)     

Evaluation of boys with marked breast development at puberty

OBJECTIVE: The purpose of this study was to investigate the efficiency of second-trimester maternal serum screening for Down's syndrome and open neural tube defects using alpha-fetoprotein and free beta-human chorionic gonadotropin as serum markers. METHODS: 3, 188 women underwent testing between 14th and 22nd week of pregnancy. Of all tested patients, 25.4% were >/=35 years old. A cut-off risk of >/=1:250 for Down's syndrome and MS-AFP >/=2.0 MoM for open neural tube defect were considered screen-positive. RESULTS: The detection rate for Down's syndrome was 77.8% (7/9) with 8.2% screen-positive rate (7.9% false-positive rate). When evaluated separately, in patients younger than 35 and in those >/=35 years old, the screen-positive rates were 3.1 and 23.3%, respectively. A total of 52 (1.6%) were found screen-positive for open neural tube defect; 2 cases of encephalocela and 1 case of gastroschisis were confirmed prenatally. CONCLUSION: The respectable number of cases with trisomy 21 identified in this study confirms that routine mid-trimester screening for Down's syndrome including MS-AFP, free beta-hCG and maternal age is useful in identifying pregnancies at increased risk.     

Making the best use of a department of clinical radiology--guidelines for doctors

A total of 17 patients with alimentary tract duplications underwent surgery at National Taiwan University Hospital from 1978 to 1994. Fifteen patients (88%) had gastrointestinal duplication and two (12%) had esophageal duplication. Common presenting symptoms of gastrointestinal duplication were melena and abdominal pain. The ileum was the most common site of duplication. Multiple duplications were seen in three patients. All duplications were cystic, except for one single appendiceal duplication. Ectopic gastric mucosa was detected in nine of the 16 nongastric duplications. One patient with ileal duplication had ectopic pancreatic tissue. Twelve patients received resection of the duplication with a segment of bowel and primary anastomosis, three patients underwent simple excision and two patients had partial resection of the duplication and stripping of the residual mucosa. Two patients had other associated congenital anomalies: one had ventricular septal defect and the other, imperforate anus and malrotation of intestine. There was no operative mortality or morbidity in this series.     

Bifid scrotum, perineal hamartoma and high imperforate anus: a case report

This is a case report of a newborn patient with imperforate anus, urethro-colonic fistula, perianal hamartoma, and bifid scrotum. Successful staged repair of these anomalies is described together with review of the embriology related to the case.     

Carcinoma arising in anorectal fistulas of Crohn's disease

PURPOSE: Anorectal fistulas are commonly associated with Crohn's disease. Carcinoma arising in an anal fistula in the absence of Crohn's disease occurs rarely. Carcinoma arising in an anorectal fistula of Crohn's disease is likewise rare and is the subject of this article. METHODS: We have seen eight cases in seven patients. Four of these were squamous carcinoma and three were adenocarcinoma. Details of these seven patients are presented. RESULTS: Two deaths in the four patients with squamous carcinoma and one in the two patients with adenocarcinoma with adequate follow-up suggest a poorer prognosis in both types of malignancy than when these lesions occur without Crohn's disease. CONCLUSION: Carcinoma does arise in the midst of the anorectal fistulas and abscesses of Crohn's disease. Carcinoma arising in a Crohn's disease fistula can be very difficult to diagnose. Examination may be limited by pain, stricture, or induration of the perianal and perineal tissues. Examination under anesthesia can also overlook the lesion. Diagnostic examination under anesthesia yields increases with biopsies or curettage of the fistulous tracts.     

Pulmonary vascular disease and operative indications in complete atrioventricular canal defect in early infancy

Pulmonary vascular disease was morphometrically analyzed in 67 patients (mean age, 19 months) with isolated complete atrioventricular canal defect. Complete obstruction of the small pulmonary arterial lumen resulting from acute fibrous proliferation and atrophy of the peripheral arterial media, which were considered absolute operative contraindications, were characteristic in six patients with Down's syndrome. Morphometric analysis of medial thickness revealed that thinning of the media of the small pulmonary arteries is generally observed at around 6 months of age in patients with complete atrioventricular canal defect and that the media in patients who have complete atrioventricular canal defect and Down's syndrome was thinner than that in such patients without Down's syndrome. These results suggest that thinning of the media as a result of two factors--Down's syndrome and aging--facilitates the rapid occurrence of fibrous intimal proliferation. Therefore intracardiac repair is desirable within 6 months of life, before medial thinning, in patients with complete atrioventricular canal defect and Down's syndrome. Excluding patients with absolute operative contraindications, the scores of the index of pulmonary vascular disease in operative survivors were below 2.0 and death occurred when scores were more than 2.2. The pulmonary vascular resistances measured in room air and by the oxygen inhalation and tolazoline tests in patients with operative contraindications were more than 7.3, 3.8, and 6.6 units.m2, respectively. We thus conclude that lung biopsy should be undertaken for patients in whom pulmonary vascular resistance is beyond these values to determine the appropriateness of surgical intervention.     

Association between parachute mitral valve and Down's syndrome. Report of a case

The trisomy 21 form of Down's syndrome is the most common human chromosomal aberration. Congenital heart disease is found in as many as 50 per cent of patients with this disorder. The two most common cardiac lesions in Down's syndrome are septal ventricular defect and endocardial cushion defect. Secundum atrial septal defect, tetralogy of Fallot and isolated patent ductus arteriosus are also observed in these Down's patients. Transposition of great arteries and coarctation of the aorta are rarely seen. Most patients having Down's syndrome with congenital heart disease have a single lesion. However, as many as 30 per cent may have multiple cardiac defects. Parachute mitral valve is a rare congenital mitral defect: a single papillary muscle in the left ventricle is the hallmark of this lesion. A parachute mitral valve is frequently associated with other left heart disorders such as supravalvular mitral ring, abnormal and stenosed mitral valve, subaortic stenosis and coarctation of the aorta, thus constituting either a complete form of Shone's complex (when all 4 components are present) or an incomplete form when there are fewer. The aim of the present report is to describe the connection between Down's syndrome and isolated, non-stenosed parachute mitral valve, which has never been reported before.