bluuebunny/crossref_metadata_2025_split huggingface dataset:
Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: Responses to dichloroacetate and benzoate
Authors: McCormick Kenneth , Viscardi Rose M. , Robinson Brian , Heininger James , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe describe the successful use of sodium benzoate in a neonate with hyperammonemia associated with congenital lactic acidosis caused by a partial deficiency of the E1 component of pyruvate dehydrogenase (PDH); of note, this biochemical distrubance has not been previously described in PDH deficiency. The pyruvate dehydrogenase complex in skin fibroblasts had 48% of normal activity with a deficiency of the E1 component. The infant presented with rapid onset of a severe metabolic lactic acidosis, hyperventilation, hyperammonemia, and coma. At 30 hours of age continuous peritoneal dialysis was started; however, plasma NH3 concentrations remained in the 300–400 μg/dl range over the next 12 hours. Sodium benzoate, 250 mg/kg, was infused intravenously with a decrease in plasma ammonia of 25 μg/dl/hr. Hippurate was documented in the urine and peritoneal fluid after benzoate therapy. At 10.5 months of age, 50 mg/kg dichloroacetate was administered orally under fasting conditions, which resulted in a 56 and 62% reduction in the serum lactate and pyruvate levels, respectively; after 2 weeks on dichloroacetate his fasting levels were significantly decreased. Fibroblast PDH activity responded similarly to this drug. In our patient sodium benzoate was rapidly effective in producing a decline in plasma ammonia that was associated with clinical improvement. We feel that its use in organic acidemias deserves further evaluation and, furthermore, that any child with suspected PDH deficiency requires a clinical trial of dichloroacetate.
Familial microtia, meatal atresia, and conductive deafness in three siblings
Authors: Schmid M. , Schröder M. , Langenbeck U. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe report on three sibs with right‐sided microtia, meatal atresia, and conductive deafness. Two of the sibs also had right‐sided palatoplegia. These sibs may have the autosomal‐recessive form of microtia (No. 25180, McKusick [1983]), of which few familial cases are known to date. The malformation is due to a disturbance of the development of the first and second branchial arches. Review of the literature shows that microtia and meatal atresia with or without middle‐ear involvement are developmental field defects which, either isolated or as a part of the facio‐auriculovertebral spectrum, may occur (1) sporadically, (2) as component manifestation of syndromes, (3) as a multifactorial, or (4) as an apparent Mendelian trait.
A mildly retarded woman with 46,XX/47,XX,+18 mosaicism
Authors: Bensen J. T. , Steele M. W. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe describe a mildly retarded woman with trisomy 18 mosaicism. The phenotype did not suggest trisomy 18, but the mild mental retardation, asymmetric face with bushy eyebrows and thick lips, short stature, and older maternal age raised the suspicion of a chromosomal cause for her condition.
A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseases
Authors: Yeager Andrew M. , Singer Harvey S. , Buck James R. , Matalon Reuben , Brennan Susan , O'Toole Susan O'Donnell , Moser Hugo W. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractTo determine whether allografts of normal amniotic epithelium might provide a nonimmunogenic cellular source of exogenous lysosomal enzymes, subcutaneous implants of amniotic epithelium were performed in six children with clinically advanced storage diseases. The clinical and the biochemical status of each patient was observed for several weeks after amniotic epithelial cell implantation (AECI). Serial studies of blood samples from each patient in the post‐AECI period did not demonstrate any increase in levels of deficient lysosomal hydrolase. In two patients, quantitative urinary excretion of substrate was also studied and did not show consistent alterations after AECI. No patient had objective improvement in clinical or neurodevelopmental status following AECI. Two patients died with progressive disease at 2 1/2 and 3 1/2 mo after AECI; no residual amniotic epithelium was found at postmortem examination. Four patients are alive with progressive disease at 6–14 mo after AECI. We conclude that allografts of normal human amnion do not provide sufficient replacement hydrolases for clinical or biochemical improvement in lysosomal storage diseases.
Minute chromosomes replacing the Y chromosome carry Y‐specific sequences by restriction fragment analysis and in situ hybridization
Authors: Münke Maximilian , de Martinville Bérengère , Francke Uta , Lieber Ernest , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractTwo unrelated males, a 43‐year‐old man with azoospermia and a 4‐year‐old boy with stature at the 10th centile, had similar karyotypes: 46,X,min. The minutes, present in all cells analyzed, stained weakly with G‐, C‐, and Q‐banding methods. To elucidate their origin we used molecular techniques: In HaeIII digests of total genomic DNA from both individuals, no Y‐specific reiterated sequences were detected. However, restriction fragment analysis with probe pDP31 demonstrated that the patients' DNA contained the Y‐specific fragment. In situ hybridization with the same probe showed that these sequences were present on the minute chromosomes and have not been translocated elsewhere.
CAMPS: Computer‐automated metacarpophalangeal profile system
Authors: Coupland Stuart G. , McLeod D. Ross , Lowry R. Brian , Wesenberg Richard L. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractThe metacarpophalangeal profile (MCP) pattern has been proven useful in describing individuals with genetic and nongenetic syndromes. However, the measurement of the 19 bone lengths is a tedious procedure requiring use of hand vernier calipers, detailed normative data to be looked up in extensive tables, hand calculator, and manual graphing techniques. Presently there are no reports of microcomputer‐automated systems for the accurate measurement, recording, analysis, and graphing of MCP profiles. We describe a computer‐automated metacarpophalangeal profile system (CAMPS) that will assist in the derivation of the MCP profile. This program allows the user to select different program routines that perform the functions necessary for MCP profile construction. The “data acquisition module” (DAM) assists in bone length measurement from contact prints of hand radiographs and stores the 19 measurements on a floppy disk. The “standardization analysis module” (SAM) then compares the 19 measurements to age‐and sex‐matched normal data and converts the raw data to z‐score values. The “Pearson product‐moment correlation module” (PPM) generates a correlation coefficient describing the degree of similarity between the two hands measured and graphically illustrates the resulting scatterplot. The “MCP plotting module” (MCPM) provides a graphic plot of the 19 bones in either transverse rows or phalangeal rays on a dot‐matrix printer or X‐Y plotter.
Partial aniridia, cerebellar ataxia, and mental deficiency (gillespie syndrome) in two brothers
Authors: Wittig Ehrenfried O. , Moreira Carlos A. , Freire‐Maia Newton , Vianna‐Morgante Angela M. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe report on two brothers (in a sibship of three) with partial aniridia, cerebellar ataxia, and moderate mental retardation, with normal G‐banded chromosomes. Both present cerebellum hypoplasia; the younger also has congenital pulmonic stenosis. A review of the literature is presented. Cause is unknown, although the possibility of an autosomal recessive gene cannot be ruled out.
Digital and palmar dermatoglyphics in Dementia of the Alzheimer type
Authors: Luxenberg Jay S. , Plato Chris C. , Fox Kathleen M. , Friedland Robert P. , Rapoport Stanley I. , Reynolds James F. 
Published: September 2005

AbstractDigital and palmar dermatoglyphics were examined in 29 men and 27 women with dementia of the Alzheimer type (DAT) and 112 age‐, sex‐, and racial group‐matched controls. Female patients had significantly (p < 0.05) more accessory triradii and complete Sydney creases than controls; no dermatoglyphic differences were detected in the males. Separating the patients by age of onset prior to or after age 65 years did not help differentiate patients from controls by dermatoglyphic profile. This study failed to confirm either the previously reported dermatoglyphic differences between DAT patients and controls or the reported similarity of the dematoglyphic pattern of DAT to that of Down syndrome patients.
Nager acrofacial dysostosis: Evidence for apparent heterogeneity
Authors: Goldstein David J. , Mirkin L. David , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractNager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and radial defects. The lower limbs are usually normal. Two patients were reported with many of these manifestations, in addition to severe facial clefts and limb deficiency. These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. We report on a patient with limb findings of intermediate severity. This patient also had hydrocephalus, micropolygyria, and tetralogy of Fallot. This may indicate apparent heterogeneity or a single condition with widely variable expression.
Cerebral abnormalities in the Neu‐Laxova syndrome
Authors: Ostrovskaya Tereza I. , Lazjuk Gennady I. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractCerebral abnormalities are considered an obligatory manifestation of the Neu‐Laxova syndrome and include lissencephaly, severe microcephaly, aplasia of the corpus callosum, hypoplasia of the cerebellum, and other pathological changes. We present data on 3 cases with central nervous system anomalies, two of which have not been described previously, and summarize the literature on the subject. The problem of distinguishing type III lissencephaly is discussed.
An unusual bandlike web in an infant with lethal multiple pterygium syndrome
Authors: Froster‐Iskenius Ursula G. , Curry Cynthia , Philp Margaret , Hall Judith G. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe report on a patient with a lethal multiple pterygium syndrome who also had an unusual, bandlike web across one axilla and partial intestinal atresia. Umbilical cord wrapping with subsequent vascular compromise appears to be the most likely pathogenetic mechanism for the additional anomalies.
Peroxisomal disorders: Clinical commentary and future prospects
Authors: Wilson Golder N. , Holmes Ronald D. , Hajra Amiya K. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractRecent progress in the classification, biochemistry, and molecular biology of peroxisomal disorders is reviewed from a clinical perspective. Diseases such as Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidemia, chondrodysplasia punctata, and Leber amaurosis share a common phenotype and involve deficiency of multiple peroxisomal enzymes. These disorders are associated with diverse metabolic abnormalities which are useful in pre‐ or postnatal diagnosis and distinguish these disorders from others such as X‐linked adrenoleukodystrophy, adult Refsum disease, hyperoxaluria type I, and acatalasemia. Peroxisome structure is difficult to quantify historically, since recent studies emphasize its developmental variability and tissue heterogeneity. The ability to manipulate this structure by dietary or pharmaceutical means provides a novel approach to therapy. At the molecular level, deficiency of peroxisomal enzymes responsible for fatty acid beta‐oxidation or ether lipid synthesis reflects enhanced protein degradation due to abnormal peroxisomes; messenger RNA for the beta‐oxidation enzymes is transcribed normally in peroxisomal disorders and can be increased by peroxisome proliferators. At least one integral structural protein of the peroxisome is synthesized normally in Zellweger syndrome. Hypotheses for the basic defect include defective regulation, uptake, or coenzyme stimulation of imported proteins, as well as defective biosynthesis. One clue to this defect may be a similar evolutionary history of peroxisomes and mitochondria which would explain their common alteration in Zellweger syndrome.
Atypical Menkes steely hair disease
Authors: Westman Judith A. , Richardson Delphis C. , Rennert Owen M. , Morrow Grant , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractMenkes steely hair disease (MSHD) is a rare disorder which typically results in severe mental retardation and death in early childhood. A 21‐month‐old boy with an atypical milder form was presented by Procopis et al. [1981]. A second child with the atypical form is presented here who has survived to age 9 years and is doing well clinically.
Activation of fatty acid oxidation in the Silver–Russell syndrome and the Brachmann–de Lange syndrome
Authors: Willems Patrick J. , Dijkstra Irene , Schierbeek Henk H. , Berger Ruud , Smit G. Peter A. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe describe a similar metabolic pattern of hyperketosis, ketonaciduria, and C6–C12 dicarboxylic aciduria in a patient with the Silver–Russell syndrome and a patient with the Brachmann–de Lange syndrome. Fasting blood levels of beta‐hydroxybutyrate and acetoacetate were significantly higher than in age‐matched controls, and both patients showed massive urinary excretion of beta‐hydroxybutyrate, acetoacetate and C6–C12 dicarboxylic acids.
The diagnostic management of newborns with congenital contractures: A nosologic study of 75 cases
Authors: Hageman Gerard , Ippel Elly P. F. , Beemer Frits A. , de Pater Joke M. , Lindhout Dick , Willemse Jakobus 
Published: September 2005

AbstractA prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic examinations, laboratory tests including chromosome and dermatoglyphic analysis, and neuropathology in 23 cases with perinatal death, a nosological or syndromal diagnosis was made in 61 cases. These cases were classified by localization of causal pathology in the categories “cerebral dysgenesis”, spinal cord defects, neuromuscular disorders and miscellaneous disorders without muscle weakness. Following this concept, the various modes of inheritance of specific disorders presenting with congenital contractures, as well as possibilities for prenatal diagnosis by ultrasonography are discussed. A guideline for the child neurologic evaluation of infants with congenital contractures is proposed. It is concluded that: (1) specification of the causal lesion and proper classification of disorders with congenital contractures is crucial for genetic counseling, (prenatal) diagnosis and management; (2) the analysis of dermatoglyphics in differential diagnosis of congenital contractures should be restudied; and (3) more study and experience is required in the observation of abnormal or decreased fetal movements by ultrasonography.
Holoprosencephaly: Association with interstitial deletion of 2p and review of the cytogenetic literature
Authors: Münke Maximilian , Emanuel Beverly S. , Zackai Elaine H. 
Published: September 2005

AbstractChromosome analysis with high‐resolution banding showed a small de novo interstitial deletion of chromosome 2(p21 → p22.2) in an infant with holoprosencephaly. This is the first such observation. There is a well‐known association with abnormalities of chromosome 13 (most commonly trisomy 13, but also dup(13q) and del(13q) and chromosome 18 (most often del(18p), but also trisomy 18). Review of the literature also showed duplications of 3p and deletions of 7q to be causes of the holoprosencephaly defect.
MCA/MR syndrome in a female infant with tetraploidy mosaicism: Review of the human polyploid phenotype
Authors: Wilson Golder N. , Vekemans Michel J. J. , Kaplan Paige 
Published: September 2005

AbstractWe report on a 3‐month‐old girl with unusual facial appearance, short neck with low posterior hairline, wide chest, valvular pulmonic stenosis, abnormal fingernails, and diploid‐tetraploid mosaicism (46,XX/92,XXXX in 7.2% of peripheral leucocytes and in 29% of skin fibroblasts). Comparison with 11 previously reported cases with mosaic or complete tetraploidy does not establish an easily recognizable syndrome. However, a malformation pattern is apparent when tetraploidy patients are compared with 14 cases of triploid mosaicism and 44 previously reported cases of nonmosaic triploidy. A history of sex hormone exposure was present in 5 of 11 pregnancies resulting in tetraploidy; this exposure may correlate with the occurrence of tetraploidy in polycystic ovary syndrome and in tumors of the female reproductive tract. The mechanism of dysmorphogenesis involved in polyploidy is considered, including hypotheses of altered nuclear/cytoplasmic ratio, of trophoblastic alteration, of delayed cell division, or of altered autosome/active X chromosome ratio.
First demonstration of recombination between the gene for Norrie disease and probe L1.28
Authors: Katayama Susumu , Wohlferd Monica , Golbus Mitchell S. 
Published: September 2005

AbstractNorrie disease is an X‐linked trait thought ot be tightly linked to the anonymous probe L1.28. Here we repost the first recombinational event amony 24 informative meioses. This indicates there is a 4% (95% C.L. 0.1%–21%) error rate introduced by meiotic crossovers in carrier or prenatal diagnosis based on linkage between Norrie disease and L1.28.
Acrodysostosis: Report of a 13‐year‐old boy with review of literature and metacarphphalangeal pattern profile analysis
Authors: Butler Merlin G. , Rames Laura J. , Wadlington William B. 
Published: September 2005

AbstractWe repost on a 13‐yr‐old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in >75% od cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal maturation and mental retardation. Results fo chromosome studies have been normal. An autosomal dominant inherance pattern was reported in two families. Maternal and paternal ages were 2 and 3 yr, respectively, above the average age of the general parent population, which suggests that advanced parental age may be a factor in the cause of this condition. A characteristically abnormal MCPP was found in our patient and in 16 additional cases studied from the literature. A mean NCPP was developed for the syndrome. MCPP analysis may ge useful as a diagnositic tool in patients suspected to have acrodysostosis.
Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford)
Authors: Maciel Andréa Trevas , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe have studied a boy with progeria (Hutchinson Gilford) born to third cousins. Four other individuals with progeria were born in another consanguineous sibship in the same family. Thus, this disorder can be inherited as an autosomal recessive trait.
Two mosaic cases with nonfluorescent Y chromosome analysed with Y‐specific DNA probes
Authors: Kałużewski Bogdan , Jakubowski Lucjusz , Dȩbiec‐Rychter Maria , Grzeschik Karl‐Heinz , Limon Janusz , Gibas Zenon , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractTwo cases of a nonfluorescent Y (Ynf) chromosome were diagnosed: one in a male, the other in a female. Both bad similar complex mosaic chromosome constitutions with a 45,X cell line.DNA studies were applied in both cases for verification of the cytogenetic diagnosis. The results on the two patients were compared with data obtained from seven healthy men (46,XY), three healthy women (46,XX), two females with 46,XY karyotype, and from cell lines with 49,XXXXY and 48, XXXX chromosome constitution.The highly repetitive Y ‐specific DNA sequences located in the heterochromatic region of the long arm were absent in these patients. Differences in the composition of the euchromatic part of the Y chromosome were demonstrable in both patients.The highly repetitive Y ‐specific DNA sequences located in the heterochromatic region of the long arm were absent in these patients. Differences in the composition of the euchromatic part of the Y chromosome were demonstrable in both patients.The suggestion that the Ynf chromosome originates from a dicentric Y chromosome cannot be accepted as a complete explanation of the phenomenon, as it probably involves more complex molecular alterations of the abnormal Y chromosome.The presence of Ynf is associated with the presence of a 45,X cell line more often than in cases of simple Y chromosome deletions with the breakpoint localized in or below the Y euchromatin/heterochromatin junction.
Fragile site in chromosome 12 in a patient with two miscarriages
Authors: Stetten Gail , Sroka Bernadette , Norbury‐Glaser Mary , Corson Virginia L. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractA heritable fragile site at 12q 13 is described in lymphocytes from a woman with a history of multiple miscarriage. The fragile site was not typically folate‐sensitive, being expressed in standard medium. The presence of this fragile site may have led to meiotic chromosome breakage and consequent infertility.
Interstitial and terminal deletions of the long arm of chromosome 4: Further delineation of phenotypes
Authors: Lin Angela E. , Garver Kenneth L. , Diggans Gerard , Clemens Michele , Wenger Sharon L. , Steele Mark W. , Jones Marilyn C. , Israel Jeannette , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty‐one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32 → qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low‐set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate‐severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31 → qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.
A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4
Authors: Beall Marie H. , Falk Rena E. , Ying Kuang‐Lin , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractA patient with a proximal deletion of the long arm of chromosome 4 is presented. This patient and 6 others previously described appear to have similar findings of moderate to severe developmental delay, small size, small hands and feet, and similar facial appearance. These patients appear to be quite different from those with more distal 4q deletions.