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PubMed1997

Successful separation of thoraco-omphalopagus and ischiopagus tetrapus twins in Korea.

A pair of male thoraco-omphalopagus twins with common liver, diaphragm, pericardium, and sternum was separated at the age of 59 days after a parasitic relationship had developed between them. Before separation one baby developed acute renal failure during which he had no edema and had normal serum electrolytes, urea nitrogen, and creatinine due to "autodialysis" by the other baby. The boys have now grown normally to the age of 6 years. A pair of female ischiopagus tetrapus twins who had a common terminal ileum and colon with imperforate anus was separated at the age of 20 h. The smaller baby had congenital multiple arthrogryposis of both lower extremities, a fracture at the middle of the left femur, and a double vagina with hydrocolpos due to an imperforate hymen of the right vagina and a rectovaginal fistula on the left. Posterior sagittal rectoplasties were performed at 7 months of age in both babies. They have normal bowel movements. All four children are alive and developing normally. These are the first two case reports of successfully separated conjoined twins in Korea.

Abnormalities, Multiple↗
PubMed1984

Agenesis of the penis, scrotal raphe, and anus in one of monoamniotic twins.

Severe defects in the development of the caudal axis are rare, but lead to profound consequences for the fetus. They result from damage to multiple germ layers at a very early stage of development and vary in severity depending on the timing and degree of insult incurred. One of a set of identical male twins presented with persistence of the primitive cloaca with an absent phallus and anal atresia, but normal limb development. This combination of penile agenesis, imperforate anus, and absence of the scrotal and perineal raphae is an ominous physical finding indicative of severe renal anomalies, which in all cases have been incompatible with extrauterine survival. This constellation of findings, of which our patient is only the sixth reported example, probably results from a primary defect in caudal mesoderm migration before the fourth week of gestation. In this case, the defect may have occurred as a consequence of monochorionic monoamniotic monozygotic (MZ) twinning.

Abnormalities, Multiple↗
PubMed2003

Present trends in the treatment of advanced non small-cell lung cancer.

Lung cancer is the leading cause of cancer deaths all over the world. As most patients present with advanced disease, major efforts have been made in the treatment of such disease with systemic chemotherapy. Several new agents and new combinations of chemotherapy have been developed recently. This article reviews the randomized clinical trials investigating chemotherapy for advanced non small-cell lung cancer (NSCLC) in relapse or progressive disease while being treated and in elderly patients. Therapies that incorporate new biological agents to target specific defects in lung cancer are also discussed. Several clinical trials have demonstrated improvement in overall survival as well as quality of life with presently available chemotherapy treatment of advanced NSCLC. Better options are available for the elderly as well as those having relapse after first-line chemotherapy. Despite all this progress the 5-year survival rate still remains at a dismal 14%. New therapies with good results are still desired.

Antineoplastic Agents↗
PubMed1977

Propionic acidemia and anorectal anomalies in three siblings.

Three siblings suffering from recurrent vomiting, hypotonia, hyperpnea, dehydration, and ketoacidosis were diagnosed as having ketotic hyperglycinemia secondary to propionic acidemia. They also had leukopenia and thrombocytopenia, and two of them had anorectal malformations, one an imperforate anus with rectoperineal fistula, and the other an ectopic anus. The occurrence of propionic acidemia and anorectal anomalies in three siblings out of eight children in a consanguineous marriage suggests an autosomal recessive genetic inheritance.

Amino Acid Metabolism, Inborn Errors↗
PubMed1985

Tracheal agenesis in infants with VATER association.

Four newborns had tracheal agenesis and numerous features of the VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia) association. Forty-two additional reported cases of tracheal agenesis have been reviewed to establish whether this defect usually occurs in association with other VATER abnormalities. Since tracheal agenesis usually is accompanied by other VATER-associated defects and since similar abnormalities in embryological mechanisms and timing are implicated, according to current theories of development, we propose that tracheal agenesis should be considered a component of the VATER association.

Abnormalities, Multiple↗
PubMed1996

Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.

The Townes-Brocks syndrome (TBS) is comprised of a triad including characteristic anal, thumb, and ear anomalies. There are many other organ system abnormalities which may be present. However, the literature does not emphasize craniofacial findings except with reference to the typical ear configuration. A three-generation family is described in which craniofacial manifestations were prominent and a Goldenhar-like condition was considered as the most likely diagnosis. However, with the recent birth of an affected male who had an imperforate anus, the diagnosis of TBS was also considered. The family manifests a variety of Goldenhar-like findings, including epibulbar dermoids, hemifacial microsomia, preauricular tags, macrostomia, and micrognathia in addition to classical ear, radial, and anal findings of TBS. We report on this family to point out a possible biological relationship of these two conditions.

Abnormalities, Multiple↗
PubMed1999

Malrotation in conjunction with esophageal atresia/tracheo-esophageal fistula.

Esophageal atresia or tracheo-esophageal fistula (EA/TEF) often occurs in association with a well-defined group of other anomalies. We report the prevalence of malrotation and other intestinal anomalies in a large data series comprising 632 nontrisomic infants with EA/TEF ascertained by the California Birth Defects Monitoring Program from January 1, 1983 to December 31, 1994. Consistent with findings reported previously in smaller case series, our findings showed a notable prevalence of imperforate anus (9.0%) and duodenal atresia (5.2%), among other gastrointestinal defects. They also showed a previously unrecognized high prevalence of intestinal malrotation (4.4%). Compared with other infants studied, the infants with EA/TEF and malrotation of the intestine had a higher proportion of other associated anomalies (in particular intestinal, central nervous system, vertebral and rib, renal and genital anomalies). These findings indicate that intestinal malrotation is more common in infants with EA/TEF than is generally perceived, and that intestinal malrotation in an infant with EA/TEF is associated with a higher burden of additional congenital anomalies, suggesting that this group of infants may have more pervasive developmental deficits and poorer prognosis than has previously been recognized.

Digestive System Abnormalities↗
PubMed1999

Prenatal sonographic diagnosis of VATER association.

PURPOSE: We examined the potential role of sonography in the prenatal diagnosis of the VATER association, a spectrum of fetal anomalies that includes vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia. METHODS: The sonographic findings in 4 fetuses with prenatal diagnoses of VATER association were prospectively recorded, along with information on outcome and postnatal radiographic findings. RESULTS: VATER association was diagnosed in 4 fetuses at 20, 17, 21, and 29 weeks' menstrual age. All showed bilateral radial atresia and tracheoesophageal fistula, visible sonographically as a collapsed or absent stomach with polyhydramnios. Two fetuses had vertebral defects. Postnatal radiographic and macroscopic findings confirmed the prenatal diagnosis in all cases. Other associated anomalies detected prenatally included single umbilical arteries (2 cases), ventricular septal defect (1 case), and renal abnormalities (2 cases). Anal atresia, present in 3 of the 4 fetuses, was not detected prenatally. CONCLUSIONS: This small series suggests that the VATER association can be readily diagnosed in utero. Important clues include radial atresia, absent or collapsed stomach, and polyhydramnios. Prenatal diagnosis can contribute to clinical decisions regarding pregnancy and neonatal management.

Abnormalities, Multiple↗
PubMed2001

Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly.

BACKGROUND: Caudal duplication is a spectrum of rare congenital anomalies with a possible heterogeneous pathogenesis including incomplete separation of monovular twins. METHODS: We report an autopsy case of a full-term infant with incomplete caudal duplication syndrome associated with multiple anomalies. RESULTS: These anomalies included a duplicated penis; double urinary bladder with an attenuated tunica muscularis; duplication of lower bowel with two ilia, appendices and colons; colonic hypogangliosis and left imperforated anus associated with rectourethral fistula. Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, muscle atrophy and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and right atrial isomerism syndrome. The complex pattern of anomalies suggests the possibility that partial caudal duplication might be part of the spectrum of conjoined twinning.

Abnormalities, Multiple↗
PubMed1979

Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.

We report an uncle and niece with duplication and deletion, respectively, of segment 7p15 leads to 7p21 originating from a balanced, intrachromosomal insertion in their mothers. The proposita had prenatal and postnatal growth deficiency, retarded psychomotor development, microcephaly, wide cranial sutures, ocular hypertelorism, small palpebral fissures, apparently low-set and malformed ears, cleft palate, congenital heart defect, hypoplasia of the distal phalanx of first fingers, rocker-bottom feet, persistent cloaca, and imperforate anus. She died at three months. Her maternal uncle has duplication of this segment and is alive at 32 years. He has severe mental deficiency, but normal growth; communicating hydrocephalus was diagnosed at three months.

Abnormalities, Multiple↗
PubMed1980

The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.

The IVIC syndrome is an autosomal dominant condition affecting mainly the upper limbs. It is described from 19 living members of one family of mostly Caucasoid descent; it came to Venezuela from the Canary Islands 140 years ago. The new mutation appeared six generations ago. It has complete penetrance and wide expressivity for a radial ray defect which may vary from an almost normal thumb to a severely malformed upper limb. When present, the thumb has a long/slender metacarpal and a short distal phalanx, reflected in a typical metacarpophalangeal (MP) pattern profile. Anthropometry reveals delayed growth in the forearms, clavicles, and cranium during adolescence, and permanently in the spine; the maturation of the face, tibiae, and feet is normal. The radial carpal bones are always affected, some being still hypoplastic at advanced ages. Constant palmar dermatoglyphic anomalies are a high a-b ridge count, a distally placed or absent t triradius, and an increased frequency of patterns in the second interdigital area. Extraocular muscles are involved almost always, producing strabismus. Hearing is bilaterally impaired due to a mixed congenital loss, either total or partial. Mild thrombocytopenia and leukocytosis are present before the age of 50 years. There is neither associated ectodermal dysplasia nor heart involvement [except for occasional mild, incomplete right bundle branch block (IRBBB)]; imperforate anus occurs in about 10% of affected persons. The possible pathogenetic relationship to the thalidomide embryopathy and to the Holt-Oram syndrome, among others, is discussed.

Adolescent↗
PubMed1981

Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies.

An infant was found to have the previously known manifestations of the Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, and congenital heart disease) but also imperforate anus, malrotation of gut, congenital hip dislocation, and urogenital sinus. All of these anomalies have been separately reported in other cases of the syndrome. Three previously unreported problems present in this case were choanal atresia, pituitary dysplasia, and vertebral anomalies; these may well be component manifestations of the syndrome and not sporadic occurrences in our patient. Of particular clinical importance were the hypoglucocorticism and the hypoglucocorticism secondary to the pituitary dysplasia.

Abnormalities, Multiple↗
PubMed1985

Laryngeal cleft: report of eight patients and a review of the literature.

Eight cases of laryngeal cleft are presented and the literature on this topic is reviewed. Patients most frequently present with stridor, respiratory distress, or a history of choking while feeding. A number of cases are found at autopsy or surgery. Laryngeal cleft frequently is found associated nonspecifically with tracheoesophageal fistula, cleft lip and cleft palate, and congenital heart defects. Laryngeal cleft may be a component manifestation of several syndromes, eg, the G syndrome, and the Pallister-Hall syndrome of congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly. Surgical treatment is successful in more than 50% of the reported cases, depending on the extent of the cleft. Cleft larynx is most likely a developmental field defect, occurring coincidentally with separation of larynx and esophagus and closure of the larynx.

Abnormalities, Multiple↗
PubMed1987

Prenatal detection of intestinal obstructions, aneuploidy syndromes, and cystic fibrosis by microvillar enzyme assays (disaccharidases, alkaline phosphatase, and glutamyltransferase) in amniotic fluid.

Microvillar enzymes (disaccharidases, alkaline phosphatase, and gamma-glutamyltransferase) were assayed in amniotic fluid from pregnancies with normal and abnormal fetuses to determine their specificity and reliability for the prenatal detection of intestinal obstructions and cystic fibrosis. All fetuses with imperforate anus, duodenal atresia, jejuno-ileal atresia, multiple intestinal atresia, or other forms of intestinal obstructions, with or without associated ventral wall defect or aneuploidy syndrome, showed diminished microvillar enzyme activities below the normal range of control amniotic fluid samples. The exclusively intestinal hydrolases maltase, sucrase, palatinase, and alkaline phosphatase were the most reliable and sensitive markers to detect intestinal obstructions whereas more widely distributed trehalase and gamma-glutamyltransferase activities were less sensitive. The combination of intestinal disaccharidase maltase, sucrase or palatinase and ALP assays is more accurate for prenatal diagnosis of CF than a combination of intestinal ALP and GGTF assays.

Alkaline Phosphatase↗
PubMed1989

Acrocallosal syndrome: new findings.

We describe a 21-month-old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy-Walker malformation, imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome.

Abnormalities, Multiple↗
PubMed1989

Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

We report one new case of congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. Based on a review of 11 cases of Pallister-Hall syndrome documented by pathological examination, two cases presumed by phenotype, three cases of hypothalamic hamartoma with craniofacial anomalies only, and several cases of related interest, we delineate the clinical, neuroradiologic, and neuropathologic manifestations which aid in differential diagnosis. Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males. These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia. In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly. Other cases of hypothalamic hamartoma have had associated palate or heart defects or presented with precocious puberty. Of the infants with a hypothalamic hamartoblastoma at autopsy, neuropathologic findings were consistent with a primitive neuroectodermal tumor. Surgical tissue from our sole survivor suggested such tumors might mature, and the tumor has not recurred. Neuroradiologic diagnosis may be difficult but should be attempted in infants with these clinical manifestations; due to the need for prompt initiation of appropriate therapy.

Cleft Lip↗
PubMed1989

Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome.

The cause of this syndrome remains unknown. Epidemiologic studies should be done by experts. The first two cases above gave a "muddy" history for possible teratogens--a "recall bias"--one of a vaginal foam spermicide, one of exposure over several days to a heavy residue of aviation diesel fuel exhaust. We do not think these are pertinent but they do point to the problem of getting a meaningful history. In addressing this problem (in a letter of 5/27/82) R.J. Berry, M.D., medical epidemiologist, Centers for Disease Control, Atlanta, Georgia, wrote "... a designed study providing standardized interview forms with controls could be designed if cases continue to appear." Since this seems to be the case, perhaps this approach should be embraced. A teratogen(s) appears to be a good bet since the condition was recognized suddenly with the first Montana case in February, 1978. Even though no record has been found in the files of the Armed Forces Institute of Pathology, Children's Hospital Automated Medical Programs (CHAMP), Montreal or Wisconsin and one or two other places, it might be worthwhile to look back at all cases of imperforate anus which have come to autopsy for possible associated CNS lesions. We may be deluding ourselves in considering the condition as "new." Chromosomes were usually studied in lymphocytes, once on the tumor and once or twice on marrow. It might be well to do more than one tissue in all new cases. Once again there appears to be no "obligatory" finding for any one syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Endocrine Glands↗