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At least 1,441 records · Page 80Linked to original sources
PubMed1987

Atresia of the esophagus. New trends in the management of high-risk neonates.

Once the reconstruction of esophageal atresia in infancy was reported, immediate repair became standard practice. High-risk infants carry an operative mortality of 30% to 80%. Staged surgical procedures were introduced to improve survival. "Delayed" reconstruction of esophageal atresia in selected cases has been reported to improve survival and eliminate staged surgical procedures. Between 1982 and 1986, 21 newborns were diagnosed as having esophageal atresia. Eight infants (32%) underwent "immediate" repair. In 13 infants repair was "delayed" for seven to 252 days. Four neonates with "pure" esophageal atresia underwent primary anastomosis, one was awaiting surgery, and another died in the postnatal period. As more high-risk infants survive the perinatal period, surgical reconstruction must be planned to maximize operative survival. The goal of delayed management of esophageal atresia is to restore intrinsic esophageal continuity.

Abnormalities, Multiple↗
PubMed1997

Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency.

The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants with LBWC, and some cases do not have limb deficiencies. Van Allen et al. [Am J Med Genet 1987;28:529-548] proposed that the diagnosis of LBWC (presence of body wall defects with evisceration of thoracic and/or abdominal organs, limb deficiency, and myelocystocele) should be based on the presence of two of three of the following anomalies: exencephaly or encephalocele with facial clefts, thoraco and/or abdominoschisis, and limb defects. This approach implies that an infant with encephalocele with facial clefts and limb defects may be considered as having LBWC, which I do not think is correct. I present the results of a clinical and epidemiological analysis aimed at identifying if, from an epidemiological perspective, it is possible to identify an entity which is characterized by the presence of abdominal wall defects along with other malformations including or not limb deficiencies. The result of this analysis allows us to consider that this entity should be characterized by the presence of abdominal wall defects with a variable spectrum of anomalies (with or without limb deficiencies) and, consequently, be called body wall complex (BWC). BWC includes cases regardless of their clinical pattern and the possible etiology or pathogenetic mechanism. Thus, the BWC entity does not include amniotic band sequence without body wall defects, but does include amniotic band sequence with body wall defects.

Abdominal Muscles↗
PubMed1998

Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?

We report seemingly unique craniofacial malformations and deglutition dysfunction in a sib pair. The boy had right maxillomandibular alveolar synechae, ankylosis of right temporomandibular joint, hypoplasia of the zygomatico-maxillary region, nasal deviation to the left, choanal stenosis, and exophthalmos due to shallow orbita. His ears were apparently low-set with prominent lobules. He had severe gastroesophageal reflux and increasing respiratory problems and died at age 11 months. Psychomotor development was normal. His 10-year-old sister had similar craniofacial malformations and a cleft soft palate. She also had a severe deglutition dysfunction and developed a thoracolumbar kyphoscoliosis. Psychomotor development was normal. The parents were healthy and non-consanguineous. The malformations in the sibs do not fit any reported craniofacial malformation syndrome and may represent a previously unrecognized monogenic disorder. This may be an autosomal recessive or dominant trait with gonadal mosaicism in one of the parents.

Abnormalities, Multiple↗
PubMed1990

Diagnosis of pyruvate kinase deficiency in a transfusion-dependent patient with severe hemolytic anemia.

In a 2-yr old girl a hemolytic anemia was present since birth requiring multiple blood transfusions. Pyruvate kinase deficiency was suspected on the basis of a marginal enzyme activity, but could not be established due to the presence of massive numbers of donor cells in her peripheral blood. However, by density fractionation we succeeded in the isolation of a small fraction of the patient's own cells, in which a severe pyruvate kinase deficiency could be detected. In contrast hexokinase and glucose-6-phosphate dehydrogenase activities were extremely high, which is indicative that a very immature cell population is present in this fraction. In immunofluorescence studies a clear crossreaction was apparent with anti M2-type pyruvate kinase antibodies, whereas only a faint reaction with anti L-type could be detected. Despite the presence of a slight amount of L-type immunoreactive material, the residual activity in the patient's cell fraction could only be attributed to M2-type pyruvate kinase as was shown by cellulose acetate electrophoresis.

Anemia, Hemolytic↗
PubMed1984

A new X-linked mental retardation-overgrowth syndrome.

We report on a family with 4 affected males in 3 generations with a previously unreported X-linked mental retardation/multiple congenital anomaly (XLMR/MCA) syndrome. The propositus was a 7-year-old Latin American moderately retarded male with: prenatal and postnatal overgrowth; short, broad upturned nose; large mouth; midline groove of tongue, lower alveolar ridge and lower lip; submucous cleft palate; supernumerary nipples; 13 ribs; Meckel's diverticulum; intestinal malrotation; coccygeal skin tag and bony appendage; hypoplastic index fingernails; postaxial polydactyly of the right hand, bilateral syndactyly of 2nd and 3rd fingers; and tibial clinodactyly of 2nd toes. His sister's son, a premature infant who died at 4 months, had nearly identical manifestations. The propositus and his nephew had normal chromosomes. A brother and son of the sister of the mother of the propositus were similarly affected and both died in the newborn period. The mother of the propositus had a large mouth, coccygeal skin tag and bony appendage, and hypoplastic index fingernails. This distinct mental retardation/multiple congenital anomaly syndrome is added to the growing list of presently known X-linked MCA/MR syndromes.

Abnormalities, Multiple↗
PubMed1990

Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2.

The proposita presented at birth with multiple congenital anomalies including craniofacial anomalies, bilateral cleft lip and palate, abnormalities of the urogenital system, talipes equinovarus, and the DiGeorge sequence. Cytogenetic investigation showed a 46,XX,-22,+der(9)t(9;22)(q22;q11.2) karyotype. The mother, maternal uncle, and maternal grandmother of the infant are carriers of a reciprocal balanced translocation involving chromosomes 9 and 22 at regions q22 and q11.2, respectively. The unbalanced karyotype seen in the proposita arose due to an adjacent-2 disjunction of the quadrivalent in the mother. Prenatal diagnosis of the second pregnancy of this woman showed a similar karyotype. Review of the literature shows that adjacent-2 disjunction may occur preferentially when certain chromosomes are involved in translocations.

Abnormalities, Multiple↗
PubMed2001

Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 8q24.13-->qter.

A derivative chromosome 8 was observed in a newborn boy who presented with low birth weight, multiple congenital anomalies, and dysmorphic face. The der(8) was further characterized at age 18 months by a high resolution G-banding analysis, spectral karyotyping, and fluorescence in situ hybridization (FISH) with multiple DNA probes. The karyotype was described as 46,XY,der(8)(qter-->q24.13::p21.3-->p23.3::p23.3-->qter), representing an inverted duplication of region 8p21.3-->p23.3 and a duplication of region 8q24.13-->qter, which attaches to the duplicated short arm segment at 8p21.3. Different from previously reported patients with an inverted duplication (8p), no deletion was detected in the distal region of 8p in this case. This young child had manifested a broad nasal bridge, micrognathia, cleft lip, hydrocephalus, partial agenesis of the corpus callosum, Dandy-Walker malformation, congenital heart defects, dysplastic kidneys, hydronephrosis, marked hypotonia, and significant psychomotor retardation. These features are compared with those commonly seen in cases with an inverted duplication of 8p and cases with a partial trisomy of 8q.

Abnormalities, Multiple↗
PubMed2006

Twinning and heteropaternity in chimpanzees (Pan troglodytes).

Unlike monozygotic (MZ) twins, dizygotic (DZ) twins develop from separate ova. The resulting twins can have different sires if the fertilizing sperm comes from different males. Routine paternity testing of a pair of same-sexed chimpanzee twins born to a female housed with two males indicated that the twins were sired by two different males. DNA typing of 22 short-tandem repeat (STR) loci demonstrated that these twins were not MZ twins but heteropaternal DZ twins. Reproductive data from 1926-2002 at five domestic chimpanzee colonies, including 52 twins and two triplets in 1,865 maternities, were used to estimate total twinning rates and the MZ and DZ components. The average chimpanzee MZ twinning rate (0.43%) equaled the average human MZ rate (0.48%). However, the chimpanzee DZ twinning rate (2.36%) was over twice the human average, and higher than all but the fertility-enhanced human populations of Nigeria. Similarly high twinning rates among African chimpanzees indicated that these estimates were not artifacts of captivity. Log-linear analyses of maternal and paternal effects on recurrent twinning indicated that females who twinned previously had recurrence risks five times greater than average, while evidence for a paternal twinning effect was weak. Chimpanzee twinning rates appear to be elevated relative to corresponding estimated human rates, making twinning and possibly heteropaternity more important features of chimpanzee reproductive biology than previously recognized.

Animals↗
PubMed1991

Success and failure with neonatal tracheo-oesophageal anomalies.

In seven and a half years, one surgical team treated 67 consecutive neonates with oesophageal atresia and/or tracheo-oesophageal fistula. According to Waterston's classification, 28 were in group A, 12 in group B and 27 in group C. The mortality rate during the initial admission was 10 per cent, all seven deaths being unavoidable in infants in group C with multiple anomalies. Birthweight alone had no bearing upon the chances of survival. Primary oesophageal repair, including one suture-fistula procedure and one delayed primary repair, was attempted in 54 (84 per cent) of the 64 patients with atresia and was successful in 46 (85 per cent). All three H-type tracheo-oesophageal fistulae were successfully divided in infants in group A. Recurrent tracheo-oesophageal fistula developed in four (7 per cent) infants, one of whom (group A) underwent successful repair. One disrupted anastomosis was successfully resutured (group A), so an intact oesophagus was finally achieved in 51 patients, of whom six (12 per cent) developed anastomotic strictures and 21 (41 per cent) underwent surgery for gastro-oesophageal reflux. Of the 60 early survivors, 10 (17 per cent) underwent aortopexy for tracheomalacia. Whenever possible, primary repair is advocated in all infants. Even for those in group C with multiple, severe associated anomalies, the combined early and late mortality was no greater following primary repair (7 died of 12 operated) than after staged repair (4 died of 7 operated), but major anastomotic complications were more common in infants in group C (5 out of 19) than in those in groups A and B (3 out of 38).

Abnormalities, Multiple↗
PubMed1993

Organization of the proximal, orbital segment of the infraorbital nerve at multiple intervals after axotomy at birth: a quantitative electron microscopic study in rat.

Although much is known of the central consequences of infraorbital nerve (ION) transection at birth, little is known about the effects of this lesion on the organization of the ION itself. To advance our understanding of how deafferentation alters the developing trigeminal neuraxis, 19 newborn rats were subjected to left ION section and perfused 1, 2, 4, 7, 17, or 90 days later. Left IONs were removed in the orbit proximal to the nerve injury site, and axon numbers, types, and fasciculation patterns were assessed with light and electron microscopic methods. Complete axon counts demonstrated that the axotomized ION contained an average (+/- SD) of 13,945 +/- 10,335, 14,112 +/- 3,501, 16,531 +/- 1,904, 9,045 +/- 1,465, 7,018 +/- 4,212, and 8,672 +/- 1,030 axons at the above-listed ages, respectively. These values are well below the 33,059 axons in the normal adult ION (Jacquin et al. [1984] Brain Res. 290:131-135) and the 42,219 axons in the newborn ION (Renehan and Rhoades [1984] Brain Res. 322:369-373). The axotomized ION also contained lower than normal percentages of myelinated axons (26.7% +/- 6.3% on postnatal day 90 vs. 59.7% +/- 6.2% in normal adults). Unmyelinated fibers constituted the vast majority of the remaining fiber types; degenerating fibers never accounted for > 1.6% of all the axons. The number of fascicles making up the axotomized ION overlapped significantly with those found in the normal newborn and adult ION. We conclude that 1) extensive, though variable, axon elimination occurs proximally within one day of the lesion; 2) the 74% reduction in fiber number seen at 90 days is not reliably achieved until postnatal day 7; 3) the higher than normal proportion of unmyelinated axons in the injured ION may underly many of the known effects of neonatal ION injury on the developing whisker-barrel neuraxis; 4) gross changes in ION fasciculation patterns are not prerequisite to injury-induced pattern alterations in the developing trigeminal system.

Animals↗
PubMed2003

The influence of IVF, multiple gestation and miscarriage on the acceptance of genetic amniocentesis.

OBJECTIVES: To determine the effect of in vitro fertilization (IVF), multiple gestation, and history of unkaryotyped miscarriage on the acceptance of genetic amniocentesis. METHODS: We studied women expected to be at least 35 years of age at the estimated date of delivery without family history of chromosomal abnormalities or fetal structural anomalies. The influence of IVF, multiple gestation, and history of miscarriage on the acceptance rate of genetic amniocentesis was evaluated. Chi-square test and logistic regression were used for analysis. RESULTS: In singleton pregnancies, the acceptance rate of genetic amniocentesis was 70.7% (58/82) in the IVF group compared to 77.9% (1837/2356) (P = 0.14) in the women who conceived spontaneously. The corresponding values in multiple gestation pregnancies were 71.1% (37/52) and 62.9% (34/54) respectively (P = 0.41). There was no difference in the acceptance rate of amniocentesis between singletons (70.7%) and multiple gestations (71.1%) after IVF (P = 0.96), while in women who conceived spontaneously, the acceptance rate of 78% in singletons was significantly higher than the acceptance rate of 63% in multiple gestations (P = 0.008). Adjusting for confounding variables, women with multiple gestations were about 40% less likely to accept genetic amniocentesis (OR = 0.63, 95% CI = 0.39-1.00, P = 0.05), while women with a history of miscarriage were about 17% less likely to accept genetic amniocentesis (OR = 0.83, 95% CI = 0.68-1.00, P = 0.05). Adjusting for multiple gestation and previous miscarriage, IVF was not independently associated with acceptance of genetic amniocentesis (OR = 0.84, 95% CI = 0.54-1.29, P = 0.42). CONCLUSIONS: There is no difference in the acceptance rate of genetic amniocentesis among women with IVF pregnancies compared with those who conceive spontaneously, after adjusting for multiple gestation and previous miscarriage. Unlike women who conceive spontaneously, the decision to accept amniocentesis appears not to be influenced by the presence of multiple gestation in women with IVF pregnancies.

Abortion, Spontaneous↗
PubMed1972

[Bloom's syndrome].

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed1989

Hydrocephalus in premature infants. Characteristics and therapeutic problems.

Twenty-one premature infants with various underlying conditions developed hydrocephalus. The characteristic clinical pictures as well as the therapeutic problems are discussed. The causative underlying conditions included intraventricular hemorrhage in the neonate or fetus, broncho-pulmonary dysplasia, congenital malformations such as holoprosencephaly with chromosome anomalies, and others. The pathophysiological aspects were considered to be characterized by the underdevelopment of major cerebrospinal fluid pathway, extremely high intracranial compliance, and demyelinating process of the nervous system. The shunt problems in these patients with such low body weight were also unique, showing an extremely high incidence of postshunt hydrocele, shunt migration into the scrotum, shunt malfunction, slit-like ventricle, and isolated ventricles. Intensive management, combined with better control of the hydrocephalus with these concepts, will help to improve the long-term outcome of these premature infants.

Abnormalities, Multiple↗
PubMed2000

[Congenital manifestations of juvenile xanthogranuloma (large nodular form)].

An infant girl presented at birth with multiple, large nodular xanthogranulomas. Her monozygotic twin sister was not affected. The congenital tumors were up to 1.5 cm in diameter, done-shaped and mainly located on the head and the upper half of the body. Histologically the cells were characterized as CD68+ non-Langerhans histiocytes. Follow-up for 18 months showed no new tumors and regression of the existing ones. No extra-cutaneous manifestations were observed. Knowledge of the differential diagnosis, especially the group of Langerhans cell histiocytosis, is essential for prognosis estimation.

Biopsy↗
PubMed2003

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

Hutchinson-Gilford progeria syndrome (HGPS; MIM 176670) is an extremely rare disease that is characterized by accelerated aging and early death, frequently from coronary artery disease. Wiedemann-Rautenstrauch syndrome (WRS; MIM 264090) is another extremely rare disease that is characterized by progeroid features from birth with multiple somatic anomalies and paucity of subcutaneous fat. Because mutations in LMNA, encoding nuclear lamin A/C, cause other lipodystrophy syndromes, we sequenced LMNA (MIM 150330) from the genomic DNAs of seven unrelated HGPS probands and two unrelated WRS probands. We found four novel LMNA coding sequence variants among the HGPS probands, namely R471C, R527C, G608S and c.2036C>T. All seven HGPS probands had at least one LMNA variant, which were found in none of the genomes of 100 normal subjects ( P<4 x 10(-11)). In contrast, neither of the WRS proband genomes had any LMNA sequence abnormality. The strong association of rare LMNA coding sequence mutations with HGPS implicates this syndrome as a laminopathy, while WRS is most probably due to mutations in another gene.

Adolescent↗
PubMed1983

Obstetric management of the fetus with omphalocele or gastroschisis: a review and report of one hundred twelve cases.

The prenatal diagnosis of an abdominal wall defect in the fetus has led some obstetricians to recommend delivery by cesarean section in order to avoid trauma to the defect and reduce the risk of dystocia. A review was made of the obstetric management of 112 infants with abdominal wall defects who were admitted to a neonatal surgical unit. Cesarean section was performed in 16%, but no cesarean sections were performed because of the prenatal diagnosis, which was made in only four cases. The mortality rate for infants with omphalocele was 29%, and that for infants with gastroschisis was 13.5%. Visceral injury from the delivery process was suggested in one case. Decisions about obstetric management were made in the absence of the knowledge of the anomaly, and vaginal delivery did not appear to adversely affect outcome. It remains to be seen whether more accurate prenatal diagnosis will identify subgroups of infants who would benefit by cesarean section. Until that time, elective cesarean section does not seem to be justified.

Abdominal Muscles↗