131/332. Extensive upper aerodigestive tract anomalies in 'VACTERL' association. Extensive upper aerodigestive tract anomalies are rare in newborns. When they occur, they are often accompanied by other congenital malformations. We present a case of a newborn who presented to the Montreal (quebec) Children's Hospital with severe tracheoesophageal abnormalities, as part of vertebral, anal, cardiac, tracheal, esophageal, renal, and limb anomalies (VACTERL) association. In spite of surgical intervention, the patient finally succumbed to other congenital abnormalities. Management of infants with such conditions usually involve complex reconstructive efforts, while prognoses remain poor due to other congenital defects and cardiopulmonary complications. ( info) |
132/332. Double atresia of the hindgut. An unusual case of double atresia of the rectum, including an imperforate anus is reported. The author was unable to find a similar case published before. ( info) |
133/332. Cloacal extrophy. Extrophic lesions of the ventral abdominal wall are represented by a range of anomalies of which the most severe is cloacal extrophy. By 1986, only 190 cases were reported in the world literature and it is estimated that only 15 cases are seen in the united states of America per year. In nigeria today, with improvement in antenatal and perinatal services, children who one or two decades ago would have been stillborns or products of miscarriages are now born alive. This paper reports a case of cloacal extrophy in a Nigerian neonate and reviews the current management of the condition. ( info) |
134/332. Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage. We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX i (12p) and the fibroblast karyotype 47,XX, marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations. ( info) |
135/332. Sacral agenesis with imperforate anus and its late complication: neuropathic bladder. The authors report a rare case of imperforate anus as a congenital anomaly. early diagnosis and close follow up are emphasized, in order to prevent the development of complications which may last for a lifetime. ( info) |
136/332. Occult neurovesical dysfunction in children with imperforate anus and its variants. Neurovesical dysfunction (NVD) is frequently encountered in children with imperforate anus and its variants. Such functional urologic problems are often compounded by associated anatomic urologic abnormalities that in combination may profoundly alter the course and prognosis of children with imperforate anus. Herein, we report 16 such cases. Management of NVD in children with imperforate anus offers several unique challenges that require important alterations in management. Specific recommendation are presented. ( info) |
137/332. New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders. 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". ( info) |
138/332. Accessory perineal scrotum associated with anorectal malformation. A report of 2 cases. Two new cases of accessory perineal scrotum in association with anorectal malformation are reported. The development of accessory scrota--as distinct from ectopic scrota--can be attributed to abnormal migration of the labioscrotal swellings. ( info) |
139/332. male pseudohermaphroditism with persistent mullerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome? We report two sibs with an undescribed MCA/MR syndrome. Both had a 46,XY chromosome constitution. The first patient is profoundly mentally retarded. Clinical features include short stature, coarse face, deep set eyes, microphthalmia, large ears, gynecoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sib was raised as a girl. She was slightly mentally impaired. She had microphthalmia and large ears, and was short. A complete uterus with tubae and a single intraabdominal gonad with testicular organization were removed during infancy. Those anomalies do not fit any previously reported syndrome, although the general aspect of the propositus clearly resembles Borjeson-Forssman-Lehmann syndrome. Inheritance could be either autosomal recessive or X-linked. ( info) |
| Clinical and autopsy findings in two fetuses and one newborn infant with fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal-recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbance. ( info) |