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A cleidocranial dysplasia syndrome associated with atresia ani, urogenital anomalies, and psoriasis-like skin lesions is reported in two siblings (1 boy, 1 girl) in a family of Japanese descent. There is no family history of cleidocranial dysplasia syndrome and/or psoriasis. Consanguinity is denied.
This paper reports the results of the first population-based study of the aetiology of VACTERL-association (i.e., the occurrence of three or more closely defined VACTERL-type abnormalities without other major congenital abnormalities). Forty-three VACTERL-associations and 33 VACTERL-like cases (the latter representing combinations of three or more closely or broadly defined VACTERL abnormalities with other congenital abnormalities) were evaluated. The noteworthy features of the VACTERL-association are: a significant male preponderance, a fetal weight retardation in full-term pregnancies, planned conceptions occurring later than in general and a higher incidence of infertility problems. Our data support the thesis that genetic factors are probably not involved in the aetiology of the VACTERL-association. In contrast, the VACTERL-like cases have a female excess, a higher rate of advanced birth order, no disturbance in fertility and some specific familial occurrence. These findings strongly suggest that genetic factors play a role in the aetiology of this heterogeneous group of multiple congenital abnormalities.
The Currarino triad is a unique complex of congenital caudal anomalies including anorectal malformation, sacral bony abnormality, and presacral mass. The usual symptomatology is constipation due to anorectal stenosis. Contrast enema and computed tomographic myelography are the imaging modalities of choice for diagnostic confirmation and clarification of the anomalies. The clinical features, unique radiologic appearance, and importance of a correct diagnosis of the Currarino triad are reviewed.
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In 144 pull-through-operations performed for anorectal-atresia, following complications were observed: pneumonia 11%, sepsis 8.3%, peritonitis 5%, bowel obstruction 5%, osteomyelitis 1%, retraction of the pulled-through colon 4%, anal stenosis 16%, secondary megacolon 9%, fistula relapse 8%, mucosal prolapse 4%. Recto-urethral, recto-vesical- and recto-vaginal fistula relapses are managed by interposition of the gracile muscle. Anal stenoses and secondary megacolon are prevented by a sufficiently long postoperative bougienage.
A unique case of combined rectal atresia and rectal stenosis with a normal anal canal is reported. To our knowledge, no similar case has been reported to date.
A low-type anorectal malformation associated with ileal atresia is described. It was very difficult to classify the anorectal malformation due to the presence of ileal atresia. Such anomalies are rare. A review of the literature on previously reported cases in Japan is presented. The possibility of other alimentary obstructions should be considered when anorectal anomalies are present.
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.
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Anorectal malformations comprise a spectrum of disease. Some of these defects are minor, with an excellent functional prognosis. Others are complex and may be associated with other defects in the urinary tract that may risk the patient's life. The decision-making process for the management of a newborn with anorectal malformations is crucial; the timing and establishment of priorities are the key to success. Because the management of affected males and females differs significantly, they are discussed separately.
New concepts in pediatric surgery have been developed concerning inter-disciplinary problems such as ureter implantation or urinary undiversion as well as deformities of abdominal organs such as biliary atresia, anorectal malformations, adrenogenital syndrome and sinus urogenitalis. Considerable improvements in fetal surgery as a part of pediatric surgery were achieved. For diagnostic, surgical and ethical reasons, however, these efforts are, for the time being, only of theoretical interest.
Using data compiled from 216,707 births from the population-based Kanagawa Birth Defects Monitoring Program (KAMP), we conducted a case-control study to evaluate the effect of maternal smoking and/or drinking during pregnancy on the risk of infants' anal atresia in 1989-1994. The frequency of maternal smoking (including passive smoking) and/or maternal drinking during pregnancy among 84 infants with anal atresia was compared with 174 matched controls. The 84 anal atresias include 49 cases of isolated anal atresia and 35 cases of syndromal anal atresia. Our findings suggest that maternal drinking during early pregnancy is associated with an increased risk of isolated anal atresia (OR = 4.8, 95% CI 1.2 to 19.1, p < 0.05). A slightly increased trend was also observed in the association of maternal smoking during pregnancy with both in the pooled groups of anal atresia (OR = 1.4, 95% CI 0.5 to 3.6).
Four children with severe congenital eye anomalies are described of which three had related symptoms. Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis. The fourth patient had bilateral cryptophthalmia as part of Fraser syndrome. All four patients were of small stature. In three of them growth hormone deficiency was demonstrated which was of hypothalamic origin as shown by growth hormone releasing hormone tests. In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. Pathogenetically the described disorders are due to congenital defects of midline structures as a common "developmental field".
Congenital absence of hypoplasia of the uterus is a cause of primary amenorrhea in approximately 15% of cases. Ultrasound is often employed as an early imaging modality in the evaluation of patients with primary amenorrhea. Demonstration of total absence or marked hypoplasia of the uterus in the presence of normal ovaries during pelvic ultrasound examination, suggests the diagnosis of congenital uterine aplasia or hypoplasia. Sonography may obviate the need for laparoscopy and for other imaging modalities. A case report of uterovaginal hypoplasia in association with anal atresia and recto-vaginal fistula is presented, and the value of ultrasound in the diagnosis of this entity is discussed. The embryology and clinical features of this anomaly are also reviewed.