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PubMed1993

A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.

A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus.

Abnormalities, Multiple↗

PubMedDate not supplied

Lipomyelomeningocele: a 9-year review.

Fourteen infants and children, 6 males & 8 females, with lipomyelomeningoceles were reviewed from October 1982 to December 1991 at Taichung Veterans General Hospital. The age at diagnosis ranged from 3 days to 5 years. The chief problems included mass on the back, urinary distention, weakness of lower limbs and poor bowel control. The cutaneous lesions over the lumbosacral region were subcutaneous lipoma, dimples and hemangioma. There were several associated anomalies, such as occult spina bifida, syringomyelia, sacrococcygeal dysgenesis, high-types imperforate anus, genitourinary anomalies, congenital heart disease, talipes equinovarus and annular pancreas. Among the 12 cases who were operated on, 8 had preoperative neurological deficits, but there was only little postoperative improvement in 2. It is important to recognize at an early stage the defect underlying skin lesions and its associated anomalies, rather than to be concerned about cosmetic factors. Early surgical repair before the appearance of neurological deficits is recommended.

Child, Preschool↗

PubMed1993

Uniparental disomy for chromosome 16 in humans.

The association between chromosomal mosaicism observed on chorionic villus sampling (CVS) and poor pregnancy outcome has been well documented. CVS mosaicism usually represents abnormal cell lines confined to the placenta and often involves chromosomal trisomy. Such confined placental mosaicism (CPM) may occur when there is complete dichotomy between a trisomic karyotype in the placenta and a normal diploid fetus or when both diploid and trisomic components are present within the placenta. Gestations involving pure or significant trisomy in placental lineages associated with a diploid fetal karyotype probably result from a trisomic zygote which has lost one copy of the trisomic chromosome in the embryonic progenitor cells during cleavage. Uniparental disomy would be expected to occur in one-third of such cases. Trisomy of chromosome 7, 9, 15, or 16 is most common among the gestations with these dichotomic CPMs. Nine pregnancies with trisomy 16 confined to the placenta were prenatally diagnosed. Pregnancy outcome, levels of trisomic cells in term placentas, and fetal uniparental disomy were studied. Intrauterine growth retardation (IUGR), low birthweight, or fetal death was observed in six of these pregnancies and correlated with high levels of trisomic cells in the term placentas. Four of the five cases of IUGR or fetal death showed fetal uniparental disomy for chromosome 16. One of the infants with maternal uniparental disomy 16 had a significant malformation (imperforate anus). All infants with normal intrauterine growth showed term placentas with low levels of trisomic cells.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMedDate not supplied

[The 3rd national workshop on defecography: the functional radiology of (neo) rectal ampullae (ileal reservoir, colo-anal anastomosis, continent perineal colostomy)].

A survey was made in 13 Italian centers with a questionnaire concerning the (a) indications, (b) postoperative complications, (c) functional results and (d) diagnostic imaging modalities related to the making of an ileal or colonic (neo) rectum. Ulcerative colitis (100%), familial polyposis (61.5%) and Crohn's disease (15.3%) were the most common indications for an ileal pouch; rectal cancer (7.96%), chronic inflammatory diseases (15.3%), diverticulosis, rectal prolapse, redundant colon and imperforate anus (7.6% each) were the most common indications for a colonic pouch. Postoperative complications included pelvic abscess (14%), sinus tract/dehiscence (10%) and bowel obstruction (9%). When compared with the S and W variants, the J-shaped ileoanal pouch proved superior because urgency and fecal retention rates were lower (18.4% vs. 44.4% and 23% vs. 28.6%, p < 0.01 and p < 0.05, respectively), despite slightly more frequent staining episodes (15.8% vs. 11.1%; p < 0.05). As for colonic ampullae, fecal retention and provoked evacuation were more frequent in the J pouch and after gracileplasty; urgency and incontinence in the straight colo-anal anastomosis (33.3% vs. 22.2% and 41.6% vs. 33.3%, respectively). The functional outcome was assessed by anal endosonography (available in 4/13 centers), defecography and anorectal manometry. Abnormal findings included: (a) reduced capacity, barium leakage, anal gaping, sphincter damage (urgency and incontinence); (b) barium retention, pouch dilatation, split evacuation, knobs and strictures (fecal retention).

Defecation↗

PubMed1996

Alimentary tract duplications.

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.

Abdominal Pain↗

PubMed1996

[Surgically treated severe acute inflammatory colitis. Immediate results and long-term outcome].

UNLABELLED: The goal of this study was to analyse the management and the long-term evolution of 40 patients surgically treated for acute colitis (AC) during a 10 year period. PATIENTS AND METHODS: From June 1985 to June 1995, 40 patients (22 males and 18 females, mean age: 33,5 y.o.) have been consecutively operated on for AC. Assessment of severity was based on clinico-biological, endoscopic and radiological criterias: AC was complicated in 3, failing to respond to medical therapy in 9, resisting to medical therapy in 28. Sub-total colectomy (STC) with ileostomy and sigmoidostomy was the most frequently performed procedure (27 cases-68%). RESULTS: 1) The preoperative diagnosis of colitis was modified 6 times (15%) after histological assessment of the specimen: the final diagnosis was ulcerative colitis, indeterminate colitis and Crohn colitis respectively in 36 (90%), 2, and 2 cases. The established diagnosis had to be modified 4 times during follow-up. 2) Postoperative complications occurred in 5 after STC (18%) and in 4 in the other procedures (31%), without mortality. 3) After a mean follow-up of 55 +/- 10 months of the all series, 7 patients (17,5%) had a stoma: 2 had ileo-anal anastomosis taken down and 2 returned to ileostomy for Crohn disease, 1 patient with protected ileo-rectal anastomosis stayed with an ileostomy, 1 patient refused ileo-anal anastomosis, and 1 with imperforate anus had terminal ileostomy. Respectively 25, 6 and 2 patients had a functional ileo-anal, ileo-rectal, and colo-rectal anastomosis and experienced good to excellent digestive comfort in 85% of the cases.

Acute Disease↗

PubMedDate not supplied

Delayed manifestation of congenital diaphragmatic hernia with intrathoracic kidney: report of one case.

Intrathoracic kidney is a very rare congenital anomaly with only about 50 cases reported in the world literature. Incidence of intrathoracic kidney with Bochdalek hernias was reported to be less than 0.25 percent. The relationship between them remains uncertain. We report a case in which the patient had a normal chest x-ray at birth, but at the age of 5 months an isolated left sided intrathoracic kidney with incomplete duplication was discovered. This was followed by ipsilateral diaphragmatic hernia at the age of nine months. Other coexisting malformations included hydrocephalus and an imperforate anus with perineal fistula. A primary repair of the diaphragmatic defect and a minimal posterior sagittal anorectoplasty were carried out at the age of nine months. Since then, the patient has had repeated admissions due to viral infection. Eventually she succumbed to pneumonia at the age of one year. This case raised the question "Does the ascent of metanephron continue postnatally and affect development of the diaphragm?"

Female↗

PubMed1997

Laparoscopic management of a noncommunicating uterine horn in a patient with an acute abdomen.

A 13-year-old girl with a history of cloacal anomalies presented with acute abdominal pain. Abdominal ultrasound was not definitive, and vaginal probe ultrasound was precluded by the patient's stenotic vagina. Magnetic resonance imaging delineated a left hematometra and hematosalpinx as well as a more normal-appearing right hemiuterus. Operative laparoscopy was used to lyse the extensive pelvic adhesions in a patient with a history of an imperforate anus and to resect a left rudimentary uterine horn with outflow obstruction. A review of cases in the world literature reveals that operative laparoscopy can be used to treat these patients successfully.

Abdomen, Acute↗

PubMed1997

Failure to obtain durable results with collagen implantation in children with urinary incontinence.

PURPOSE: We studied the efficacy and durability of injection of glutaraldehyde cross-linked bovine collagen for treating urinary incontinence in children. MATERIALS AND METHODS: From April 1994 to July 1995, 12 boys and 8 girls 4 to 18 years old (mean age 9.5) underwent endoscopically directed collagen injections into the bladder neck. Followup ranged from 9 to 23 months (mean 15.2). The etiology of incontinence included myelodysplasia in 12 patients, exstrophy/epispadias in 4, and epidural abscess, sacral agenesis, imperforate anus and posterior urethral valves in 1 each. RESULTS: Collagen was injected once in 9 patients, twice in 10 and 3 times in 1. Injected volume ranged from 3 to 18 cc (mean 7.3). Followup urodynamic studies were available for 10 patients. Leak point pressure increased from 28.7 to 34.9 cm. water. One patient (5%) was dry, 5 (25%) had improvement, 10 (50%) had transient improvement for 2 to 90 days (mean 52) and 4 (20%) remained incontinent. Five children underwent bladder neck sling procedures. In 1 patient transient sciatic nerve irritation developed due to gluteal hematoma. CONCLUSIONS: The previously reported high success rate of collagen injection for urinary incontinence in children is unsupported by this study. Improvement in continence was temporary or inadequate in the majority of patients. Collagen therapy may only delay the need for surgery for managing organic urinary incontinence in children.

Adolescent↗

PubMed1997

[Perinatal surgery and perinatal treatment].

Recent results of neonatal surgery in Japan are presented. Nowadays, babies born with esophageal atresia, diaphragmatic and abdominal wall defects (gastroschisis and amphalocele) require special intensive surgical care after delivery, while those with imperforate anus, hirschoprung's disease and intestinal atresia will follow a relatively smooth postoperative course. Prenatal surgery or treatment may be necessary for some fetuses with congenital diaphragmatic hernia and congenital cystic adenomatoid malformation of the lung. Experiences at the authors institutions were reported, and recent results at institutions in the united states are introduced.

Congenital Abnormalities↗

PubMed1998

Cryptorchidism--aspects of pathogenesis, histology and treatment.

Cryptorchidism is the absence of at least one testis in the scrotum. The incidence of cryptorchidism is high and almost 3% of boys in the western countries are operated on for this condition. Abnormalities in the hypothalamo-pituitary-testicular axis may result in cryptorchidism, and cryptorchidism is nearly almost present in individuals with a testis and abnormal sexual differentiation. We characterized an association of cryptorchidism and T10-S5 vertebral, renal and ureteral malformations and dysplasias. Cryptorchidism was ipsilateral to renal and ureteral malformations and dysplasias in more than 90% of cases. The association was proved with increasing frequency in: 4-10% of cryptorchid boys who had undergone laparoscopy for impalpable testes or were expected to be without additional abnormalities; 18% of cryptorchid boys in a material from a department of pediatric surgery; 34% of cryptorchid individuals who had died between week 28 and 40 of gestation; 65% of cryptorchid boys operated on for imperforate anus; all individuals with tritonmelia who are always cryptorchid. As the association was demonstrated with increasing frequency the higher the degree of abnormal differentiation of the caudal developmental field, cryptorchidism may be interpreted as a feature of such an abnormal differentiation. The general significance of our hypothesis is supported by the fact that both position and histology of the undescended testes were independent of a possible presence of the malformations and dysplasias encompassed by the association. Intra-abdominal testes were associated with persisting diaphragmatic ligaments which again were associated with an abnormal differentiation of the midline. Consequently we consider cryptorchidism a feature of abnormalities in the hypothalamo-pituitary-testicular axis and of an abnormal differentiation of the male sexual organs, the midline, and/or the caudal developmental field. The recommended age at surgery for cryptorchidism has gradually been lowered. The recommendations are mainly based on analyses of number of spermatogonia per tubular transverse section in normal and undescended testes. In 1984 when we started our investigations, the biological value of this variable was unclarified.

Adolescent↗

PubMed1998

Trisomy 16 and trisomy 16 Mosaicism: a review.

A review of all prenatal and postnatal diagnoses of trisomy 16 and trisomy 16 mosaicism was carried out in the context of the current understanding of confined placental mosaicism and uniparental disomy (UPD). The prenatal detection of trisomy 16 cells is associated with a high probability of fetal death, preterm delivery, intrauterine growth retardation, and fetal anomalies. Birth defects were typical of those seen in nonmosaic partial duplications of chromosome 16. Surprisingly, anomalies were sometimes limited to a single organ and included some relatively common isolated defects such as a ventricular septal defect, hypospadias, imperforate anus, inguinal hernia, and clubfoot. The risk for abnormality appeared to be higher in those pregnancies in which trisomy 16 cells were identified in amniotic fluid compared to the detection in chorionic villi samples. Contrary to nonmosaic trisomy 16 with an excess of males, mosaic trisomy 16 shows an excess of female karyotypes. Following the prenatal detection of trisomy 16 cells, aneuploid cells are almost never found in fetal or neonatal lymphocytes. Studies on fibroblasts also often fail to confirm the presence of the abnormal cell line even in cases in which multiple anomalies are present. It is likely that trisomy 16 cells are sometimes present in the early developing embryo even though subsequent cytogenetic studies on fetal or neonatal tissues may not detect any aneuploid cells. UPD can be excluded as a mechanism for those anomalies that are common to mosaic trisomy 16 and nonmosaic partial duplications. The term "occult mosaicism" is suggested to describe the situation in which the presence of an abnormal cell line is suspected on the basis of clinical data but unproven by laboratory analysis.

Amniocentesis↗

PubMed1997

[Antley-Bixler syndrome. Description of two new cases and review of the literature. Prognostic and therapeutic aspects].

Antley-Bixler syndrome was first described in 1975, and to date, 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped nose", dysplasic ears, and occasionally urogenital or cardiac defects. Survival is closely linked to upper airway obstruction, which also affects (with craniosynostosis) mental prognosis. Association and severity of malformations are variable, and while numerous children have died early from respiratory distress, one third of them are alive, and have had quite satisfactory development. With early and effective prevention of respiratory complications, and early treatment of craniosynostosis, overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive and midtrimester prenatal diagnosis is feasible; genetic counseling depends on accurate prognostic and therapeutic data. We describe 2 further cases. The first a 4 years old male, with unilateral coronal synostosis and radiohumeral synostosis predominating on the same side. The second an 18 months old female, with brachycephaly and an imperforate anus.

Abnormalities, Multiple↗

PubMed1998

FG syndrome: report of three new families with linkage to Xq12-q22.1.

FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five related males with mental retardation, disproportionately large heads, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was noted in at least one of the initial cases and has been seen in a number of subsequently-reported cases. The associated congenital hypotonia with joint hyperlaxity tends to progress to contractures with spasticity and unsteady gait in later life. The presence of subtle facial abnormalities and the characteristic behavior in midchildhood facilitate diagnosis at this age, particularly when there are other affected male relatives in the maternal family. Recently, Briault et al. [1997] mapped a gene for FG syndrome to the Xq12-q21.31 region. We describe three additional families (six additional patients) with FG syndrome on whom we have conducted linkage analysis. Our findings support the localization of a gene for the FG syndrome in Xq12-q21. In addition, we have noted skewed X-inactivation in carrier females, as well as new associated findings in affected males of sagittal craniosynostosis and split hand malformation.

Abnormalities, Multiple↗

PubMed1998

Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence.

We present the first report of a female fetus with concomitant isochromosome 18q [i(18q)] and cloacal dysgenesis sequence. Prenatal sonographic examination at 15 weeks' gestation showed intra-uterine growth retardation, a normal brain, a normal spine, congenital megacystis and oligohydramnios. The pregnancy was terminated. The abortus displayed dysmorphic features of a high forehead, hypertelorism, a prominent nose with a bulbous tip, median cleft lip and palate, micrognathia, low-set ears, a short neck, a joint contracture at the wrist, prominent heels and pseudo-hermaphroditism. Necropsy confirmed an imperforate anus, megacystis, a phallic structure and cloacal dysgenesis sequence. Postnatal chromosomal investigation proved a pure de novo i(18q). Molecular genetic analysis by polymorphic microsatellite markers confirmed the maternal origin of the aberrant chromosome. The coexistence of cloacal dysgenesis sequence and i(18q) in this case shows a correlation between the disturbance of the caudal developmental field and the chromosomal abnormality with monosomy 18p and trisomy 18q. Our presentation also demonstrates the importance of perinatal cytogenetic analysis in malformed fetuses in order to uncover underlying genetic disorders.

Abnormalities, Multiple↗

PubMed1998

Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.

We report on three brothers with renal tubular dysgenesis and absent nipples, each also had other malformations including pre-auricular pits and a preauricular tag, branchial clefts, choanal atresia, pulmonary lobation anomaly, ventricular septal defect, type IIB interrupted aortic arch, absent gallbladder, absent thymus, parathyroid gland, accessory spleen, imperforate anus, clinodactyly, and broad digits and small nails. All three infants died neonatally. This pattern of clinical malformations appears to be a previously unreported syndrome.

Abnormalities, Multiple↗

PubMed1999

VACTERL manifestations in two generations of a family.

Most cases of the VACTERL "association" [Martinez-Frias et al., Am. J. Med. Genet. 76: 291-296, 1998] are sporadic, with an empiric recurrence risk of 1% or less. Rare families with recurrence of VACTERL-H association are described with patterns consistent with single gene inheritance. Also described are occasional single anomalies of the VACTERL association in sibs or parents of affected individuals. We describe a mother and son with typical VACTERL anomalies. The patient was born by cesarean section to a 27-year-old G1 mother following an uncomplicated pregnancy. He was found to have an asymmetric crying face, preaxial polydactyly on the right, a small midmuscular ventricular septal defect with an incomplete right bundle branch block on echocardiogram, a small cleft in T3, and incomplete development of the left half of the sacrum. The kidneys were normal ultrasonographically. The patient's mother was born with an H-type tracheo-esophageal fistula, imperforate anus, rectovaginal fistula, a triphalangeal thumb, hypoplastic left kidney, and vertebral anomalies. There were no other individuals with VACTERL anomalies in the family. No families with VACTERL association in the offspring of an affected individual have been reported previously.

Abnormalities, Multiple↗

PubMed1999

Ectopic bronchus: an insufficiently recognized malformation causing respiratory morbidity in VATER association.

An 11-month-old boy presented with recurrent wheezing and atelectasis in the right upper lobe of the lung. Bronchoscopy and bronchography confirmed an ectopic bronchus arising from the right main bronchus. The diagnosis of VATER association was made on the basis of multiple vertebral and rib anomalies, imperforate anus with a perineal fistula, unilateral hydronephrosis, atrial septal defect, and a preauricular tag, he did not have tracheo-esophageal fistula. We emphasize the importance of recognizing tracheobronchial anomalies in VATER association.

Abnormalities, Multiple↗