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At least 541 records · Page 30Linked to original sources
PubMed1979

Zollinger-Ellison syndrome with Marden-Walker syndrome. Association of two rare diseases in a 5-year-old girl.

A 5-year-old girl had the symptom of vomiting for four years. Gastric analysis showed elevated basal acidity unaffected by betazole stimulation. Roentgenographic examinations of the upper gastrointestinal tract showed two ulcers in the lesser curvature of the stomach. Fasting serum gastrin values were remarkably elevated and a calcium infusion test resulted in noticeable increases in serum gastrin levels. These data were consistent with the Zollinger-Ellison syndrome. In addition, the patient demonstrated such anomalies as retarded physical and mental development, kyphoscoliosis, median cleft palate, joint contracture and unusual facies due to blepharophimosis, and malformed low-set ears. These clinical features were in accord with the Marden-Walker syndrome. To our knowledge, the present case presents the first case of the combination of these two rare entities in the literature.

Abnormalities, Multiple↗
PubMed1980

A case of leprechaunism with severe hyperinsulinemia.

This report describes an infant with physical features typical of leprechaunism, including a characteristic facies, hirsutism, and decreased subcutaneous tissue and muscle mass. Intermittent hypoglycemia and severe hyperinsulinemia were documented. The patient's insulin was normal in molecular size and biological activity, but its binding to the patient's cultured fibroblasts was profoundly decreased. Insulin antibodies were not present. A literature review has been undertaken to clarify further the clinical, metabolic, and pathological characteristics of this condition.

Blood Glucose↗
PubMed1980

A syndrome of infantile CNS degeneration.

We describe six patients from five families, who have a syndrome that, to our knowledge, has not been previously reported. The syndrome is characterized by growth failure, ophthalmoplegia, optic atrophy, choreoathetosis, areflexia, hypotonia, dysmorphic facies, and severe mental and motor retardation. Some of the children also had microcephaly and seizures. The clinical course is remarkably uniform and slowly progressive. The abnormalities first noted are delayed psychomotor development and poor weight gain, and the others all develop within the first three years of life. The syndrome seems to be hereditary. Extensive laboratory investigation has not yielded an etiology. Until pathologic material is available, the disorder remains a syndrome and the diagnosis is established by the unique combination of neurological abnormalities.

Adolescent↗
PubMed1985

Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis.

We studied two cases of beta-glucuronidase deficiency. One patient's disease was present at birth and the other patient's disease appeared in early childhood. The symptoms observed in both patients, although of differing severity, included peculiar facies, cloudy cornea, hepatosplenomegaly, hernia, kyphosis, recurrent infections, short stature, and developmental delay, as well as increased excretion of urinary chondroitin sulfate A/C and decreased levels of beta-glucuronidase activity. We reviewed all of the reported cases and examined the biochemical and clinical heterogeneity observed in this disorder.

Child↗
PubMed1987

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic facies, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.

Adrenal Insufficiency↗
PubMed1975

Neonatal necrotizing enterocolitis. Evolution of new principles in management.

Over a three-year period, we have operated on 30 infants with necrotizing enterocolitis. Because of the increased experience with this lesion, we have evolved reliable guidelines for both early diagnosis and operative treatment of necrotizing enterocolitis. Initial therapy was nonsurgical in most cases and included gastrointestinal tract decompression, systemic antibiotics, and correction of fluid, electrolyte, and metabolic abnormalities. Absolute indications for surgery and thought to be prima facie evidence for bowel necrosis were (1) cellulitis of the anterior abdominal wall, (2) free intraperitoneal air, (3) a single dilated intestinal segment present on serial roentgenograms, (4) clinical deteioration in the presence of appropriate medical therapy, and (5) persistent abdominal tenderness. Although all 30 patients operated on had necrotic bowel proved at histologic examination, 21 survived (70%). All patients listed as survivors, with the exception of two, have had intestinal tract continuity reestablished and are doing well.

Age Factors↗
PubMed1996

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.

This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in 20 children of Afrikaans-speaking parents in South Africa. This is the first report of a non-Afrikaans patient with this genetic entity.

Brazil↗
PubMed1996

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.

Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonia, massive edema, a flattened coarse facies, telangiectasias, and hepatosplenomegaly, but no dysostosis multiplex. The patient died 72 days postpartum. Excessive sialyloligosaccharides in urine, as well as vacuolation of lymphocytes and eosinophilic granulocytes in peripheral blood, were indicative of a lysosomal storage disease. In the patient's fibroblasts, both alpha-neuraminidase and beta-galactosidase activities were severely reduced, and cathepsin A activity was < 1% of control levels, confirming the biochemical diagnosis of galactosialidosis. However, in contrast to previously reported early-infantile cases, a normal amount of protective protein/cathepsin A mRNA was detected on Northern blots. This mutant transcript was translated into a precursor protein that was not processed into the mature enzyme and lacked both protective and catalytic activities.

Carboxypeptidases↗
PubMed1996

Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2.

To our knowledge, only four previous cases of distal chromosome 2p deletions exist in the literature. We present a patient with minor facial anomalies who had a distal interstitial deletion of the short arm of chromosome 2, del(2)(p24.2p25.1). This patient had many features seen in other patients with distal 2p deletion including short stature, "rectangular" facies, microcephaly, hypotonia, and mental retardation. This patient also has sensorineural hearing loss which has been described in one other patient with a similar deletion. The N-myc oncogene has been mapped to 2p24. By fluorescence in situ hybridization using a cDNA probe for the N-myc oncogene, this patient was found to have a deletion of the N-myc oncogene. This confirms the previous map location for N-myc.

Abnormalities, Multiple↗
PubMed1999

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.

Abnormalities, Multiple↗
PubMed1999

Genetic susceptibility for specific cancers. Medical liability of the clinician.

The use of genetic profiling techniques to detect individuals with an increased susceptibility to heritable cancers has provoked recent legal interest in the duties of the attending physician and in the rights of patients and their families. In the current study specific prima facie and recently litigated cases are presented and explored to delineate the issues facing physicians and to illustrate the prerogatives of patients who are caught up in a heritable cancer enigma. Various courts have attempted to answer questions involving lawsuits in which incidents of breast/ovarian carcinoma and colon carcinoma have provoked claims of negligence against health care providers. Health care workers involved in the care of these patients have specific duties to these individuals. It would appear that physicians are being forced to assume the additional duty of delving into a patient's family history of cancer through multiple generations. This duty is followed by a responsibility to provide detailed counseling to those patients in whom such activity impacts the diagnosis and management of familial cancer.

Breast Neoplasms↗
PubMed1996

Prenatal diagnosis of Rambam-Hasharon syndrome.

Rambam-Hasharon syndrome (RHS) is a newly recognized autosomal recessive inborn error in fucose metabolism. Mental retardation, short stature, coarse facies, and recurrent infections are the main clinical findings. Several fucosilated proteoglycans are deficient in these patients. Leukocyte adhesion deficiency type 2 is associated with lack of the membrane glycoprotein sialyl-Lewisx (CD15s). In the red blood cells (RBCs), lack of the membrane glycoprotein H is manifested as a Bombay (Oh) blood type. Two consecutive pregnancies it risk for RHS were monitored during mid-trimester by cordocentesis. One fetus expressed H substance and her blood phenotype was O Rh+. The second fetus, a female, was 2 weeks smaller than expected by dates and had the Bombay blood type. The placenta of the affected fetus was small and irregular. This is the first prenatal diagnosis of this syndrome and the first case found in a female. The documentation of the syndrome in patients of both sexes and the parental consanguinity support an autosomal recessive inheritance. Two apparent recombinations between fucosyl-transferase 1 (FUT1, the H gene) and fucosyl-transferase 2 (secretor) are suggestive of non-allelic heterogeneity. We believe that the Bombay phenotype in this family is caused by a mutated gene, other than FUT1, which is causing multiple deficiencies of fucosilated proteoglycans.

Abortion, Induced↗
PubMed1997

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, and generalized metaphyseal dysplasias of the long and short tubular bones. Several mutations of the type X collagen gene (COL10A1) have been reported in patients with SMCD, all in the C-terminal globular domain. To address whether mutations in other domains can cause SMCD, we examined the coding region of the COL10A1 gene in DNA samples from six Japanese families affected with SMCD, by direct sequencing. We detected novel mutations in three unrelated SMCD patients; one was a one-base deletion in the C-terminal globular domain and others were de novo missense mutations in the N-terminal globular domain. All three cases revealed a typical clinical phenotype for SMCD. Thus, we have demonstrated that mutations of COL10A1 in regions other than the C-terminal globular domain can cause SMCD, and the results suggest that the N-terminal globular domain also plays an important role in formation of type X collagen.

Asian People↗
PubMedDate not supplied

Meconium does not guarantee fetal lung maturity.

OBJECTIVE: In utero passage of meconium may represent a response to hypoxic stress or a normal maturational event. When found during the third trimester, one may be tempted to use its presence as prima facie evidence of fetal lung maturity. The purpose of our study was to determine the frequency of meconium-stained fluid in the third trimester and the incidence of biochemical and physiologic lung immaturity in these fetuses. METHODS: Amniotic fluid specimens obtained at our institution from 1991 through 1993 (n = 2,377) were analyzed for maturity and visually inspected for meconium. Perinatal outcome was obtained for intramural deliveries occurring within 3 days of amniotic fluid collection (n = 905). Gestational age was defined as the best obstetric estimate based on menstrual dates, clinical examination, and ultrasound results. RESULTS: Meconium staining was present in 2.7% (n = 64) of specimens. Although meconium-stained specimens were more likely to have mature lecithin-sphingomyelin (L:S) ratios (OR 2.1, 95% confidence interval [CI] = 1.2-3.6) and phosphatidylglycerol (PG) concentrations (OR 3.8, CI 2.2-6.7), 17.2% were immature for both L:S and PG (n = 11, CI = 9.9-28.2%). When analysis was limited to fetuses delivering intramurally within 3 days of amniotic fluid collection, respiratory distress syndrome occurred in 3.0% (CI = 0.5-15%) with meconium-stained fluid. CONCLUSIONS: The presence of meconium in amniotic fluid does not guarantee lung maturity. The same consideration of the risks of prematurity must be given to the fetus with meconium-stained fluid as given to the fetus with clear fluid.

Amniotic Fluid↗
PubMed2001

Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?

We report on two sisters in a family with a hitherto undescribed MCA/MR condition characterized by growth retardation, severe microcephaly, a peculiar facies, congenital contractures of the interphalangeal and patellar joints, atopic dermatitis, and growth and developmental delay. The disorder in the family we describe is similar to but clearly distinguished from tricho-rhino-phalangeal syndromes or Bavinck syndrome. We propose that the condition in the sisters represents a new autosomal recessive MCA/MR syndrome.

Abnormalities, Multiple↗
PubMed1984

The concurrence of Saethre-Chotzen syndrome and malignancy in a family with in vitro immune dysfunction.

The occurrence among 13 siblings of a malformation-mental retardation syndrome and diverse malignancies was investigated for etiologic relationship by clinical, genetic, immunologic, and virologic techniques. Three sisters and their father had Saethre-Chotzen syndrome, an autosomal dominant trait with craniosynostosis and asymmetric facies. One affected sister also had nasopharyngeal carcinoma; tow nondysmorphic brothers had Hodgkin's disease, and another had seminoma with teratocarcinoma of the testis. Decreased in vitro lymphocytic proliferation to various mitogens was observed in both available siblings with tumor, one sibling with Saethre-Chotzen syndrome, and two clinically normal siblings and their father. Both parents and all siblings had normal karyotypes and no increase of antibodies to Epstein-Barr virus. The malformation syndrome and the various neoplasias segregated independently of each other and of 47 genetic markers, including histocompatibility antigens (HLA). This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related to subclinical immune dysfunction. Whether the Saethre-Chotzen syndrome predisposed to malignancy, perhaps through impaired immunity, awaits additional observations.

Acrocephalosyndactylia↗
PubMed1988

Clinical trial of high-dose oral medroxyprogesterone acetate in the treatment of metastatic breast cancer and review of the literature.

Recent studies have suggested that there are benefits from the use of high-dose parenteral medroxyprogesterone acetate (MPA) in the treatment of metastatic breast cancer. The present study was designed to assess the efficacy and toxicity of high-dose oral MPA in women with clinical parameters suggesting potentially hormonally sensitive metastatic breast cancer. The first 28 patients received 800 mg/day, and 11 of them had received no previous hormone (NPH) therapy. The response rate (complete plus partial) was 63% for those receiving NPH and 12% for those receiving previous hormone (PH) therapy. Toxicity was significant at these doses, especially for women treated for more than 5 weeks. Toxic effects included excessive weight gain, Cushingoid facies, worsening of diabetes mellitus, and other stigmata suggestive of hypercorticism. Nineteen other patients were treated at 400 mg/day with a 60% response rate for 10 NPH patients and 44% for patients with PH treatment. Toxicity was less severe in these patients. The median time to treatment failure was 23 weeks, and to survival, 119 weeks for all treated patients. Moderately high (400 mg/d) and higher dose (800 mg/d) oral MPA are capable of inducing reasonable response rates in patients with NPH treatment. The toxicity of these regimens was significant--profound weight gain was dose limiting in some patients. While effective, high-dose oral MPA is unlikely to supplant tamoxifen as first-line therapy in metastatic breast cancer.

Administration, Oral↗
PubMed2002

New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities.

We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition.

Abnormalities, Multiple↗