1/104. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/104. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
3/104. Epignathus teratoma: report of three cases with a review of the literature.Three cases of epignathus teratoma associated with other midline anomalies are reported. The first case involved Pierre Robin sequence and a bifid tongue. The second case was characterized by two teratomas, a meningoencephalocele, and a cleft lip and nose. The third case had Pierre Robin sequence associated with duplication of the pituitary gland and hypoplasia of the corpus callosum.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
4/104. Heterotopic thyroid tissue at the porta hepatis in a fetus with trisomy 18.Heterotopic thyroid tissue at the porta hepatis in a fetus with trisomy 18 is described. The fetus had an eutopic thyroid gland without any abnormalities. The heterotopic thyroid was found at the porta hepatis and showed histological features similar to the eutopic thyroid. Immunohistochemically, the heterotopic follicles were positive for thyroglobulin, but no calcitonin-positive cells were found. Intra-abdominal heterotopic thyroid is exceedingly rare in locations other than the ovary, and to our knowledge, this is the first report of a fetal case. The present case provides clear evidence that abdominal heterotopic thyroid can occur as a congenital anomaly. Migration abnormality of the median anlage of the thyroid is the most likely histogenesis of heterotopic thyroid at the porta hepatis.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
5/104. costello syndrome: a cancer predisposing syndrome?costello syndrome is a specific MCA/MR syndrome mainly characterized by dysmorphic facial features, peculiar biphasic growth pattern, motor and mental retardation, ectodermal anomalies involving skin and nails, and age dependent development of nasal and perianal papillomata. heart malformations and/or hypertrophic cardiomyopathy are frequently observed. We report a 4-year-old girl with costello syndrome who developed an intrathoracic ganglioneuroblastoma. In previous reports two patients with ectodermal tumours have been described, a ganglioneuroblastoma of the adrenal gland and an epithelioma. This third report suggests that neural crest neoplasia may be a significant risk factor for children with costello syndrome.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
6/104. Congenital nasal pyriform aperture stenosis: diagnosis and management of 20 cases.The objective of this study was to review the characteristics of congenital nasal pyriform aperture stenosis (CNPAS) in a series of 20 children seen between 1993 and 1996. The diagnosis was made by physical examination and computed tomography scan. A single central maxillary incisor was detected in 12 cases (60%). Three children had morphological abnormalities of the pituitary gland shown on magnetic resonance imaging. One child had an antidiuretic hormone deficiency, and another child had a growth hormone deficiency. Two children had craniosynostoses, 1 of which was Apert's syndrome. All patients underwent operation by a sublabial approach, and 1 was referred for a columellar necrosis after nasal stenting. After surgery, all patients showed improvement, and the nasal stenting was usually removed 1 week after surgery. Follow-up revealed normal breathing. In conclusion, CNPAS was previously considered to be an unusual cause of nasal obstruction in neonates and infants. The number of cases treated recently in our department suggests that this newly recognized entity is more common than expected.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
7/104. Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies.A male infant was liveborn at 38 weeks of gestation to a G4P1AB2, 22-year-old, mother. polyhydramnios and multiple congenital anomalies were noted by ultrasonography; the infant died 5 min after birth. At autopsy, the infant had multiple defects of blastogenesis including midline anomalies with asplenia and abnormalities of laterality formation. The laterality defects were unusual in that they combined asplenia with hypoplastic, symmetrically unilobate lungs and bilateral hyparterial bronchi more consistent with polysplenia, abdominal situs inversus with midline stomach, symmetric liver, and left gallbladder. No intracardiac abnormalities were present, but there was azygous continuation of the inferior vena cava. Additional multiple midline defects included bronchoesophageal fistula, duodenal atresia, absence of posterior leaf of diaphragm; horseshoe adrenal gland; microcephaly; Dandy-Walker anomaly with agenesis of cerebellar vermis and occipital encephalocele; holoprosencephaly with orbital encephalocele, midline defect of the orbital plate of the skull, bilateral anophthalmia, double proboscis with bilateral choanal atresia, midline upper lip and palatal cleft; single-lobed thyroid; hypoplastic external genitalia with midline cleft of scrotum, long tapering fingers, and defects of the cranium at the sites of orbital and occipital encephaloceles. Defects of laterality frequently are associated with other complex midline anomalies, which both result from a disturbance of pattern formation during blastogenesis, i.e., the induction of the progenitor fields. The latter are the result of the establishment of upstream expression domains of growth and transcription factors and other morphogens. Many of these and other genetic systems, expressed asymmetrically around the midline, are responsible for laterality formation and are the result of upstream and subsequent downstream gene expression cascades through the expression of genes such as HOX genes; bFGF; transforming growth factor beta/activins/BMP4; WNT-1,8; and SHH.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
8/104. Case report: maldescent of the thymus in a hypoparathyroid infant with Pharyngeal Pouch Syndrome.The clinical and pathological findings in a 6-month-old boy with III-IV pharyngeal puoch syndrome are reported. The infant had multiple congenital anomalies including absence of the parathyroid glands, maldescent of the thymus, aberrant right subclavian artery and dysfunction of the glossopharyngeal nerve. Because of persistence of the thymus in the cervical area, a thymic shadow was not found on roentgenographic examination of the anterior mediastinum. The weight and histology of the thymus were normal, as were studies of humoral and cellular immunity.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
9/104. Cowden disease.Cowden disease represents an unusual, but unique syndrome which can be recognized most consistently by the development of characteristic verrucous, keratotic, papular, and nodular lesions about facial orifices, on the oral mucosa, and over the dorsal surfaces of the forearms and hands. The cause of these diverse hyperplastic changes is not known. Recognition of these lesions as signs of more extensive disease should alert the physician to examine the thyroid gland, breasts, female reproductive tract, GI tract, and skeleton for evidence of the associated changes we have enumerated. Because of the tendency for lesions of the thyroid, breast, and intestines to undergo malignant change, these patients require close observation and evaluation.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
10/104. Glanular diphallus with urethral stricture.An unusual case of a 5-year-old boy with duplication of the glans, a rare variety of diphallia, is reported. The two glandes were arranged one above the other, the dorsal glans had only a blind pit while the ventral glans had a patent urethra with glanular hypospadias. The child also had right renal agenesis and a posterior urethral stricture.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
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