bluuebunny/crossref_metadata_2025_split huggingface dataset:
Tentative assignment of gene for oto‐palato‐digital syndrome to distal Xq (Xq26–q28)
Authors: Hoar David I. , Field L. Leigh , Beards Francis , Hoganson George , Rollnick Beverly , Hoo Joe J. 
Published: August 2005

AbstractDetailed physical mapping of oto‐palato‐digital (OPD) syndrome gene on the X‐chromosome was attempted on a family of 3 generations with 2 affected men. Although the result remains statistically non‐significant, it indicates that the OPD‐I gene might be located on the distal Xq.
Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy
Authors: Zhu Danping , Economou Effrosini P. , Antonarakis Stylianos E. , Maumenee Irene H. 
Published: August 2005

AbstractLeber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by bilateral acute or subacute loss of central vision, primarily in young males. A G→A single base mutation at 11778nt of the mitochondrial genome which eliminates a SfaNI restriction site [Wallace et al., 1988; Holt et al., 1989; Hotta et al., 1989; Singh et al., 1989; Vilkki et al., 1989; Yoneda et al., 1989; Stone et al., 1990; Lott et al., 1990.] has been found in more than 60% of the families with LHON studied.We studied 25 persons from 4 families with LHON using SfaNI and Mae III digestion of a 201 base pair polymerase chain reaction (PCR) product encompassing the 11778nt mutation. The loss of the SfaNI site and the acquisition of a Mae III site at 11778nt were identified in all maternal relatives of the LHON families studied. The mutation was heteroplasmic in all affected individuals, female carriers, and males at‐risk. The heteroplasmy of mitochondrial DNA (mtDNA) was also identified by direct DNA sequencing of PCR amplified mtDNA digested by SfaNI or Mae III. It appears that the proportion of the mutant mtDNA correlates with the severity of the disease.
Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)
Authors: Verloes Alain , Gillerot Yves , Walczak Elisabeth , Van Maldergem Lionel , Koulischer Lucien 
Published: August 2005

AbstractWe report on a stillborn boy with frontonasal malformation (Sedano‐J̌iràsek type D—DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy‐Walker malformation. Most cases are sporadic.
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA – patients with severe combined immunodeficiency (ADA – SCID)
Authors: Hirschhorn Rochelle , Ellenbogen Amy , Tzall Stephanie 
Published: August 2005

AbstractSevere combined immunodeficiency (SCID) is a heterogeneous syndrome, due to X‐linked and autosomal recessive defects. A significant proportion of the autosomal recessive forms of SCID are due to mutations at the adenosine deaminase (ADA) locus. Nine different mutations at the ADA locus, including 7 missense point mutations, have been reported in children with ADA – SCID. We could detect 5 of the 7 missense mutations associated with ADA – SCID by alterations in restriction fragments utilizing standard restriction digestion of genomic DNA and hybridization of radiolabelled ADA genomic probes to Southern transfers. We additionally developed more rapid nonradioactive methods employing digestion of genomic DNA amplified by PCR that also detected all 5 mutations. Using these methods, we have examined a sample of 45 ADA – SCID chromosomes and report that these 5 missense mutations account for one third of the ADA – chromosomes studied, with 2 mutations being relatively common.
High frequencies of human genetic diseases: Founder effect with genetic drift or selection?
Authors: Zlotogora Joël 
Published: August 2005

AbstractRare genetic diseases have been reported with high frequency in some populations. The mechanisms which were proposed to explain most of these observations include founder effect, genetic drift or selective advantage. In recent years, many genes have been sequenced and mutations causing some of these disorders were characterized. According to the analysis of haplotypes and/or mutations, it may be possible to distinguish 3 groups of disorders frequent in isolated populations. In the first group, all the affected patients have only one frequent mutation, suggesting a founder effect with genetic drift. In the second group, more than one mutation is found among the patients; however, most of the patients are homozygotes for one frequent mutation which most probably originated from a common founder; the other patients are compound heterozygotes for the common mutation and a rare mutation. In the third group, more than one frequent mutation is found responsible for each disease. This may be due to a selective advantage which allows the expansion of each new mutation in the particular population or to multiple founder effect with genetic drift in smaller communities which thereafter mixed to form the larger population. © 1994 Wiley‐Liss, Inc.
Segmentation anomalies of the vertebras and ribs: A developmental field defect: Epidemiologic evidence
Authors: Martínez‐Frías M. L. , Urioste M. 
Published: August 2005

AbstractOpitz has defined developmental field defects (DFD) as “any dysmorphogenetically reactive unit of the developing organism that leads to final structure.” We have incorporated in our coding system specific codes to identify individual DFDs in each child, irrespective of the cause or type of the MCA pattern (i.e., chromosomal, mendelian, environmental, or unknown). Using this approach, we can analyze the group of defects included in the expression of each DFD as a discrete unit.To confirm our hypothesis that vertebral and rib anomalies constitute a DFD, we have studied all of our cases with segmentation anomalies of the spine and ribs, including hemivertebrae, fused or absent vertebrae, and “crab‐like” thorax, all of which fall into the loosely defined groups of spondylothoracic dysplasia, costovertebral dysplasia, Jarcho‐Levin syndrome, and others. The study was performed using the 18,743 malformed children from the ECEMC data files, 110 of them having vertebral/rib anomalies. © 1994 Wiley‐Liss, Inc.
Developmental field defects and associations: Epidemiological evidence of their relationship
Authors: Martínez‐Frías M. L. 
Published: August 2005

AbstractLubinsky [1986: Am J Med Genet 2:9–16] has defined associations as derivatives of causally nonspecific disruptive events acting on developmental fields. Opitz [1992: Second International Workshop on Fetal Genetic Pathology] considers developmental fields as the basic biologic units of individual development and of evolution, and has stated that associations represent the idiopathic occurrence of multiple congenital anomalies during blastogenesis. These concepts imply that associations represent the concurrence of a greater number of developmental field defects (DFDs) than other patterns of multiple anomalies.The coding system for children with multiple congenital anomalies, developed in the Spanish Collaborative Study of Congenital Malformations (ECEMC), permits analysis of DFDs as morphogenetic units. Thus, we can study their presence in any type of MCA pattern, regardless of its etiology.Here we present the analysis of a selected group of DFDs of blastogenic origin. Specifically, we have studied how the groups of defects, usually comprised in those specifics DFDs, are observed in children who present different clinical entities such as associations, embryopathies, syndromes of known etiology, and others. The results of our analysis show a greater concurrence of the selected DFDs in associations than in other MCA pattern, and support the concept of Lubinsky [1985: Am J Med Genet 21:35–38; 1986] and Opitz [1992]. © 1994 Wiley‐Liss, Inc.
Ectomorphic habitus, severe mental retardation, and characteristic face: A new MCA/MR syndrome?
Authors: Fryns J. P. , Smeets E. , Thiry P. , Geutjens J. , Vinken L. , Van den Berghe H. 
Published: August 2005

AbstractHere we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre‐and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxiallary hypoplasia, large mouth with downturned corners, short philtrum and everted lower lip, associated with remarkable ectomorphic habitus. © 1994 Wiley‐Liss, Inc.
Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation
Authors: Tsuji Kazushiro , Narahara Kouji , Kikkawa Kiyoshi , Murakami Masae , Yokoyama Yuji , Ninomiya Shinsuke , Seino Yoshiki 
Published: August 2005

AbstractCraniosynostosis (CRS) is frequently seen in the del(7p) syndrome, and the gene for this cranial anomaly (CRS1) has been assigned to 7p21. We present a 3‐year‐old boy with CRS involving the sagittal and coronal sutures, who had a de novo and apparently balanced translocation, t(6;7)(q16.2;p15.3). Southern blot analysis of several loci on 7p14 → pter showed that the patient was heterozygous for HOX1I and IL6, possibly homozygous for D7S149, but hemizygous for D7S135 with a loss of the paternal allele. These findings suggest the localization of a candidate gene for CRS1 to be on 7p15.3 in the close proximity to the D7S135 locus. © 1994 Wiley‐Liss, Inc.
Penoscrotal transposition: A case report and review
Authors: MacKenzie Jennifer , Chitayat David , McLorie Gordon , Balfe J. William , Pandit Paresh B. , Blecher Stan R. 
Published: August 2005

AbstractWe report on a boy born with complete penoscrotal transposition, normal scrotum, twisted penile shaft with hypoplastic penile urethra, meatal stenosis, normal bladder, and bilateral cystic dysplastic kidneys. The patient died of renal failure at 2.5 months. This is the 13th reported case of complete penoscrotal transposition with normal scrotum. The possible pathogenesis is discussed and the literature is reviewed. © 1994 Wiley‐Liss, Inc.
Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality
Authors: Migliori Maria Valeria , Cherubini Valentino , Bartolotta Edoardo , Pettinari Antonella , Pecora Rolando 
Published: August 2005

AbstractWe report on a case of ring chromosome 5 in a 36‐month‐old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chromosome 5 as consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. © 1994 Wiley‐Liss, Inc.
Parental consanguinity as a cause of increased incidence of birth defects in a study of 131, 760 consecutive birthsxs
Authors: Stoll Claude , Alembik Yves , Dott Béatrice , Feingold Josué 
Published: August 2005

AbstractThe risk for birth defects in the offspring of first cousin parents is substantially higher than in the offspring of non‐consanguineous parents. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies, we think that the answer to this question is “yes.” In the population studied in Northeastern France, consanguineous matings were known in 1.08% of the cases with congenital anomalies, vs. 0.28% in controls (P < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 38 malformed children, 24 were seen in first cousin matings (10.5 times more frequent than in offspring of nonconsanguineous couples), 8 in second cousin marriages, and 6 in more distantly consanguineous matings.Consanguineous mothers were more often pregnant than nonconsanguineous mothers (P < 0.01) and they had more stillbirths than nonconsanguineous mothers. These results must be taken into account when counseling consanguineous couples. © 1994 Wiley‐Liss, Inc.
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients
Authors: Mäkitie Outi , Susic Miki , Ward Leanne , Barclay Catherine , Glorieux Francis H. , Cole William G. 
Published: August 2005

AbstractThe Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal dominant mutations of COL10A1, the gene which encodes α1(X) chains of type X collagen. We report the clinical and radiographic findings in 10 patients with MCDS and COL10A1 mutations. Six patients had lower limb deformities, which necessitated orthopedic surgeries in all of them. One patient demonstrated no deformities and normal stature at age 11 years (height −1.2 SDS) while the others manifested severe short stature (<−3.5 SDS). Radiographs showed metaphyseal changes which were most pronounced at the hips and knees. Five of the identified 10 mutations in COL10A1 were novel. Six mutations resulted in truncation of the NC1 domain while four mutations were single amino‐acid substitutions. Our findings suggest that COL10A1 mutations result in a uniform pattern of growth plate abnormalities. However, the clinical variability in severity among affected individuals is greater than previously thought. © 2005 Wiley‐Liss, Inc.
A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome
Authors: Ben‐Omran Tawfeg I. , Cerosaletti Karen , Concannon Patrick , Weitzman Sheila , Nezarati Marjan M. 
Published: August 2005

AbstractThe clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency. We report a 4½‐year‐old boy who presented with acute T‐cell leukemia. The facial gestalt was strongly reminiscent of NBS. The patient died shortly after the onset of treatment for his T‐cell leukemia. Subsequent chromosome breakage studies showed a high rate of breakage in a fibroblast culture. Radiosensitivity was assessed by a colony survival assay; the results showed radiosensitivity greater than is typically seen in NBS. Mutation screening of the NBS1 gene was negative. Sequencing of the LIG4 gene revealed a homozygous truncating mutation 2440 C>T (R814X). Although this mutation has been previously noted in LIG4 syndrome, this patient is the first reported homozygote for the mutation. In this study, we review the clinical features of this rare syndrome and provide suggestions for differential diagnosis. © 2005 Wiley‐Liss, Inc.
Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family
Authors: Martínez‐Frías María Luisa , Toral Joaquín Fernández , López‐Grondona Fermina , Mendioroz Jacobo , Bermejo Eva 
Published: August 2005

AbstractA second family with the condition first described by Frías et al. in 1975 is presented. Those authors examined a mother and her son affected with short stature, facial anomalies (epicanthic folds, downward palpebral fissures, hyperthelorism, and eyelid ptosis), cup‐shaped and posteriorly rotated ears, hand and foot defects, and delayed bone age. In the family we are presenting here, a girl, her mother, the mother's brother, and the propositus' maternal grandmother, were affected. This supports autosomal dominant inheritance, as proposed by (Frías et al. [1975] BDOAS 11:30–33), although with variable expressivity. © 2005 Wiley‐Liss, Inc.
Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation
Authors: McGaughran Julie , Sinnott Stephen , Moal Florence Dastot‐Le , Wilson Meredith , Mowat David , Sutton Bridget , Goossens Michel 
Published: August 2005

AbstractMowat–Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease. Heterozygous mutations or deletions involving the gene ZFHX1B (previously SIP1) [OMIM 605802] have recently been found to cause MWS. There have previously been no reports of a sibling recurrence of this syndrome. A brother and sister are described with clinical features of MWS, where both have the same truncating mutation in exon 8 of ZFHX1B. As their parents are phenotypically normal and do not have the mutation in lymphocyte‐derived DNA, the most likely explanation is germ‐line mosaicism. © 2005 Wiley‐Liss, Inc.
The etiology and genetics of wormian bones
Authors: Bennett Kenneth A. 
Published: August 2005

AbstractThe relationship between the length of the basi‐occiput and the presence of wormian bones is studied in 116 Negro, 113 White, and 50 Southwestern American Indian adult male crania. Among all three races, there is a statistically significant difference between those individuals who possess wormian bones and those who do not. Furthermore, the basi‐occiput length in the Negro, regardless of sutural bones, differs significantly from that in the White, but differences between the White and the American Indian were not present. It is suggested that wormian bones are not under direct genetic control, but instead represent secondary sutural characteristics which are brought about by stress.
Numerical aberrations in the permanent teeth of grade school children in Jerusalem
Authors: Rosenzweig Kurt A. , Garbarski Dalia 
Published: August 2005

AbstractAn epidemiologic survey on the occurence of hypo‐ and hyperdontia was carried out among the 28,000 grade school children of Jerusalem. While the first condition was more prevalent among girls, boys had more supernumery teeth. The rate of both anomalities was higher in children belonging to Oriental ethnic groups than in children of European origin, and in Israelis of second generation. The maxilla was more often involved than the mandible, and the tooth most often lacking was the maxillary lateral incisor. Most supernumerary teeth were of the type of the “mesiodens”.
Blood group investigations on the Carolinians and Chamorros of Saipan
Authors: Plato Chris C. , Rucknagel Donald L. , Kurland Leonard T. 
Published: August 2005

AbstractA comparison of the frequencies of blood groups, haptoglobins, and hemoglobins of Chamorros and Carolinians of Saipan showed significant differences in the Rh, MNS, P, and Kidd systems. The differences were not of sufficient magnitude to exclude the possibility that the two groups were of the same ethnic origin. Thalassemia of the β variety was detected in two Chamorros, indicating the presence of this complex in Micronesians as well as in other ethnic groups of the southwestern Pacific.
Growth rates and phylogeny in primates
Authors: Gavan James A. , Swindler Daris R. 
Published: August 2005

AbstractThere is sufficient evidence to indicate that man grows for a longer period of time than chimpanzee who in turn has a greater duration of growth than rhesus monkey. The problem of this paper was to determine if there was a concomitant decrease in a rate of growth. Using the relative growth rate of Fisher ('21), it appears that for most of their period of growth, the rate of change is the same. Immediately after birth, when we have no data for children, rhesus monkey grows significantly faster than chimpanzee. By a year and a half their rates are the same, and neither species shows a sex difference. From seven years (age of youngest children) until children start through puberty, there is no sex difference in Homo sapiens, and the human rate does not differ from the chimpanzee rate. Because of the resemblance between the primate curve for rate and that for dairy cattle, it is postulated that this curve is more mammalian than primate and that during phylogeny the primates have merely increased the duration of time when growth is possible. Man does show one new feature, the puberal growth spurt, which is not found in the non‐human data considered.The implications of these conclusions for primate phylogeny and for growth are discussed.
Genetic and selective factors in reduction of the hallux in Pongo pygmaeus
Authors: Tuttle Russell H. , Rogers Charles M. 
Published: August 2005

AbstractExtreme reduction of the hallux is unique to the orang‐utan (Pongo pygmaeus) among Primates. Hallucal diminution has advanced so far that 60% of orang‐utans lack both distal phalanges and nails. Absence of these structures occurs significantly more often in females than in males. Hypotheses on possible genetic control of the condition have been tested and indicate that either single gene inheritance or polygenic inheritance with variable expressivity is involved. Reduction of pollex and of hallux in Pongo have advanced with selection for a specialized four‐digit grasp in hands and feet. Diminution has progressed farther in the great toe than in the thumb due to selection for fine manipulation in the latter digit.
Morphology of Liberian Negro deciduous teeth. I. odontometry
Authors: Moss Melvin L. , Chase Patricia S. 
Published: August 2005

AbstractAn odontometric study of the deciduous teeth of 21 Liberian Negro children is reported. These data were obtained from dental casts alone. Statistical comparisons were made of the mesiodistal diameter alone with two American White populations and the three Japanese populations. Maxillary teeth, with the exception of the cuspids were larger in the Negro sample, while only the Negro mandibular molars were significantly wider. This situation resulted in an alteration of Negro maxillary tooth size order. Comparisons were made with other populations reported in the literature which led us to stress the fact that, as yet, no satisfactory sample of deciduous tooth measurements are available for any population. A discussion of tooth form differences stresses the point that teeth differ in both attributes of form, i.e., in shape as well as in size between the several major racial groups. The processes by which these shape differences are brought about were discussed and it was suggested that differing relative growth rates may well be one cause. An allometric analysis of fetal molar tooth growth showed, again, that a sharp interphase occurs in all teeth, with a subsequent decrease in specific growth rate. This interphase corresponds to the initiation of cuspal calcification.