bluuebunny/crossref_metadata_2025_split huggingface dataset:
Acrania: A manifestation of the Adams‐Oliver syndrome
Authors: Chitayat David , Meunier Catherine , Hodgkinson Kathy A. , Robb Laura , Azouz Michael 
Published: June 2005

AbstractA 10‐year‐old male with acrania, distal limb anomalies, and abnormal arterial and venous cranial blood vessels is reported. Parental films and examination are normal. This case supports the hypothesis that acrania is a severe form of aplasia cutis congenita and is within the spectrum of Adams‐Oliver syndrome. It is proposed that the diagnosis of acrania requires assessment of both parents and proband to assess other manifestations of vascular disruption in order to provide accurate genetic counselling. © 1992 Wiley‐Liss, Inc.
New oral‐acral syndrome with partial agenesis of the maxillary bones
Authors: Verloes Alain , Koulischer Lucien 
Published: June 2005

AbstractWe report on a woman with congenital defect of the anterior part of the maxillary bone (including absence of incisors and canines) without cleft lip or palate, and ectrodactyly of the feet. This syndrome appears to represent a new entity of unknown cause. © 1992 Wiley‐Liss, Inc.
Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization
Authors: Henderson Karen G. , Dill Fred J. , Wood Stephen 
Published: June 2005

AbstractA de novo chromosome aberration in a woman with severe mental retardation and minor anomalies has been characterized cytogenetically. The patient's karyotype was described as 46, XX, inv dup (8)(p12 → p23.1). Previous Southern blot dosage studies with the marker locus D8S7 demonstrated that the patient was monosomic for this locus, suggesting that the rearrangement generated a duplication‐deficiency chromosome. We have reinvestigated this patient using fluorescent in situ hybridization with chromosome 8 cosmids and an Alu‐PCR product specific for 8p. These studies have confirmed directly that the duplicated chromosome also has undergone deletion. © 1992 Wiley‐Liss, Inc.
Child with multiple congenital anomalies and mosaicism 46, XX/46,XX, del (14)(q32.3)
Authors: Miller Bruce Alan , Jayakar Parul , Capó Hilda 
Published: June 2005

AbstractWe report on a female infant with multiple congenital anomalies and severe developmental delay in association with a rare, terminal deletion of chromosome 14 [karyotype:mosaic. 46,XX/46,XX del (14) (q32.3) = 36%:64%]. © 1992 Wiley‐Liss, Inc.
Oculo‐Auriculo‐Vertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients
Authors: van Bever Yolande , van den Ende Jenny J. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on 8 Brazilian patients with the oculo‐auriculo‐vertebral (OAV) complex with associated uncommon anomalies of hydrocephalus, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel‐Feil anomaly, Rokitansky sequence, fibrous dysplasia, and dextrocardia. Our patients show that in some instances a definite diagnosis can be difficult within the wide clinical picture of the OAV complex. © 1992 Wiley‐Liss, Inc.
Autosomal dominant insulin resistance syndrome due to a postbinding defect
Authors: Seemanová E. , Rüdiger H. W. , Dreyer M. 
Published: June 2005

AbstractWe investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and later overt insulin‐resistant diabetes mellitus (non‐insulin‐dependent diabetes mellitus, NIDDM). The patients have markedly curly scalp hair, deficient face and body hair. Their teeth were healthy and normal in size and position. The clinical and biochemical findings and characteristics of the insulin receptors investigated in fibroblasts are reported. There was normal insulin binding to fibroblasts in the 2 brothers and their father. However, insulin‐stimulated RNA synthesis was decreased as compared to that of normal control individuals. These findings suggest a postbinding defect of insulin action. The pedigree documents an autosomal dominant mode of inheritance. The diagnosis is of practical importance since it enables medical supervision of gene carriers in a pre‐clinical state of atherosclerotic complications and overt diabetes. The findings in this family have relevance also to the explanation of familial mild mental retardation and to the study of different forms of insulin resistance due to a disturbance in biosignal transfer. © 1992 Wiley‐Liss, Inc.
Congenital defects of the limbs and alcohol exposure in pregnancy: Data from a population based study
Authors: Froster Ursula G. , Baird Patricia A. 
Published: June 2005

AbstractLimb deficiency may occur in offspring prenatally exposed to alcohol. In a study on limb deficiency occurring in 1,213,913 consecutive liveborn infants in British Columbia, born in the years 1952–1984, a total of 659 cases with limb deficiency was identified. Cases with documented maternal alcohol abuse in pregnancy in this group were analyzed separately. We found eight cases with severe prenatal alcohol exposure (6 F, 2 M). In six of the eight cases a terminal transverse defect of the forearm or hand was present. In the remaining two cases ulnar defects were identified. These observations give further support to the hypothesis that intrauterine alcohol exposure may cause limb defects. This has also been demonstrated in experimental animals. Terminal transverse defects made up a larger proportion of cases with known alcohol exposure (6/8) than of cases where alcohol exposure was not noted (217/651) (χ2 = 6.13; P < 0.025) in this study. The defects primarily involved the right hand and forearm. This suggests a vascular origin of the limb defects after intrauterine alcohol exposure. © 1992 Wiley‐Liss, Inc.
Delayed membranous cranial ossification in a mother and child
Authors: Angel Ariadna Gonzalez‐del , Carnevale Alessandra , Takenaga Raul 
Published: June 2005

AbstractWe report on a girl and her mother with delayed intramembranous ossification of the cranial vault. The 11‐month‐old girl had a large ossification defect involving parietal bones, squamous portion of temporal bones, and interparietal region of occipital bone, while the mother showed a complete ossified cranial vault with flat posterior parietal region and prominent occiput. Both had a similar face characterized by frontal bossing, hypertelorism, downward slant of palpebral fissures, flat nasal bridge, and short midface. On reviewing the literature, we concluded that these cases may be a dominant transmitted ossification defect with characteristic face, different from the cranium bifidum‐parietal foramina entity. © 1992 Wiley‐Liss, Inc.
Duplication (20p) in association with thyroid carcinoma
Authors: Clark P. , Jones K. L. , Freidenberg G. R. 
Published: June 2005

AbstractWe report on a girl with short stature, mental retardation, mutism, “coarse” facial appearance, and papillary‐follicular thyroid carcinoma. She had dup(20p) derived from a paternal balanced translocation [(12p;20p)]. We speculate that the carcinoma in our patient may be related to the deletion of material from 12p resulting in absence of genetic material normally required for the suppression of thyroid tumorigenesis. © 1993 Wiley‐Liss, Inc.
Apparent Greig cephalopolysyndactyly and sinus node disease
Authors: Fryns J. P. , De Waele P. , Van Der Hauwaert L. , Van Den Berghe H. 
Published: June 2005

AbstractWe present the clinical findings and follow‐up data from birth of 10.5 years in a boy with Greig cephalopolysyndactyly who, in addition, presents sinus node disease (“sick sinus syndrome”). The significance of the concurrence of Greig cephalopolysyndactyly syndrome, an autosomal dominant condition mapped at 7p13, and sinus node disease is discussed. © 1993 Wiley‐Liss, Inc.
Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies
Authors: Masuno Mitsuo , Asano Jun‐Ichi , Yasuda Kanji , Kondo Tomio , Orii Tadao 
Published: June 2005

AbstractWe report on a 19‐month‐old girl with a derivative chromosome 9 and a recombinant chromosome 12 resulting from a maternal balanced complex rearrangement involving chromosomes 8, 9, and 12. The karyotype of the phenotypically normal mother was 46,XX,t(8;12) (9;12) (8qter→8p23::12q12→12q15::9q32→9qter;9pter→9q32::12q15→12qter;12pter→12q12::8p23→8pter). The child's karyotype was 46,XX,−9,−12, +der(9) (9pter→9q32::12q15→12qter),+rec(12) (12pter→12q15::9q32→9qter) mat. The child had severe growth retardation, minor anomalies including trigonocephaly, hypertelorism, broad nasal root, apparently low‐set and posteriorly angulated ears, triangular face, pectus carinatum, clinodactyly of fifth fingers, and almost normal psychomotor development. To the best of our knowledge, there have been only 3 previous reports of recombination derived from parental complex chromosome rearrangements. In the recombination products, the chromosomes were apparently balanced and the offspring had no clinical abnormalities. The present case exhibited abnormalities and may have a submicroscopic aberration of 12q arising from crossing over during maternal meiotic pairing, although her chromosomes appeared to be balanced. © 1993 Wiley‐Liss, Inc.
Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9
Authors: Petty Elizabeth M. , Bolognia Jean L. , Bale Allen E. , Yang‐Feng Teresa 
Published: June 2005

AbstractHereditary cutaneous malignant melanoma (HCMM) with or without atypical moles has been described in several large kindreds worldwide. Despite numerous studies of these kindreds, the gene or genes responsible for this disorder has not yet been identified. Cytogenetic and molecular studies of melanoma tumor tissue and cell lines suggest that a gene involved in the pathogenesis of malignant melanoma lies on chromosome 9p. We describe a woman with atypical moles and multiple primary melanomas, who lacks a family history of HCMM, and, has a de novo constitutional unbalanced reciprocal translocation involving the short arms of chromosomes 5 and 9 with a cytogenetically visible deletion of 5p or 9p: [46,XX,‐5,‐9, +der(5)t(5;9) (p13.3 or 14.2;p13.3 or 21.2), +der(9)t(5;9)]. This finding supports the hypothesis that a gene predisposing to HCMM lies on the short arm of chromosome 9. © 1993 Wiley‐Liss, Inc.
In vitro chondrogenesis in human chondrodysplasias
Authors: Horton William A. 
Published: June 2005

AbstractBone morphogenesis depends on the sequential expression of multiple genes that first allow formation of mesenchymal anlagen, their replacement by cartilage models, and finally, the synthesis of new bone at growth plates. These processes require orchestration of synthesis of multiple collagens, proteoglycans and glycoproteins, the genes for many of which have been isolated and are being studied. Several genes carry mutations which are responsible for the chondrodysplasia phenotypes and can be studied at the gene level or by examining their expression in cultured chondrocytes.
Natural history of blue sclerae in osteogenesis imperfecta
Authors: Sillence D. , Butler B. , Latham M. , Barlow K. 
Published: June 2005

AbstractScleral hue is an important sign which distinguishes 2 broad groupings of patients, those with and those without blue sclerae with non‐lethal osteogenesis imperfecta (OI). Individuals with OI type I have distinctly blue sclerae which remain intensely blue throughout life. In OI type III and OI type IV the sclerae may also be blue at birth and during infancy, but the intensity fades with time such that these individuals have sclerae of normal hue by adolescence and adult life.
Non‐invasive prenatal diagnosis of osteogenesis imperfecta
Authors: Thompson Elizabeth M. 
Published: June 2005

AbstractThe main mode of non‐invasive prenatal diagnosis of osteogenesis imperfecta (OI) is fetal imaging, either by radiography or detailed ultrasonography. Radiography is more of historical interest and ultrasonography is in practice virtually exclusively used for non‐invasive second trimester diagnosis of OI. Both methods have also been reported later in pregnancy when diagnosis allows the most appropriate method of delivery to be planned. For example, a caesarean section can be avoided if the fetus is shown to have a form of OI associated with limited survival.Ultrasonography is useful mainly for prenatal diagnosis of the severe forms of OI, especially the perinatally lethal forms (Sillence type II) and to a lesser extent for the severe progressively deforming forms (Sillence types III and III/IV). For the milder varieties of OI (Sillence types I and IV), many cases will be missed by scans. Invasive methods of prenatal diagnosis of OI (principally chorion villous sampling) are used for families with the milder dominant forms of OI and in severe forms of OI in which the actual biochemical or molecular defect in type I collagen is known.Many cases of type II OI and a few of type III have now been reported which were detected by scans before 20 weeks gestation, the earliest being at 15 weeks, for type IIA OI. These include cases not only at genetic risk but also sporadic cases in which scans were done either routinely or for obstetric indications.The ultrasonic abnormalities which are found include reduced echogenicity, multiple fractures, and deformity of the long bones, ribs and skull. There is a marked reduction of long bone length on measurement. The abnormalities are more severe in type II OI than in type III.No false negative diagnoses have yet been reported for severe OI. Ultrasonography is a reliable mode of prenatal diagnosis for a pregnancy at risk of type II OI and probably also for type III, although more reports for the latter are needed to give more information about the likelihood of false negative diagnoses in this form of OI. For pregnancies at risk of types II and III OI, serial scans from 14 weeks gestation can be offered. An experienced operator, using a good realitime scanner should be able to detect type II OI by at least 17 weeks gestation, and type III OI by 19 to 20 weeks. In future, it may be possible to diagnose type II OI in the first trimester by ultrasound using an intravaginal transducer.
Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta
Authors: Constantinou‐Deltas C. D. , Ladda Roger L. , Prockop Darwin J. 
Published: June 2005

AbstractMutations in the genes coding for the proα1 and proα2 chains of type I procollagen have been found in many patients with osteogenesis imperfecta (OI), a heritable disorder of connective tissue. The severity of the disease varies between families and even among members of the same family. This phenotypic variability covers a spectrum extending from very mild forms that cannot be easily detected to perinatally lethal forms. One explanation for this phenotypic variability is the nature of the mutation in the type I procollagen genes. Another explanation is mosaicism. Here we report on 2 families with propositi who have OI, whereas their mothers had a milder form of the disease. In one family, the molecular defect was previously shown to be a substitution of α1904 by cysteine [Constantinou et al., 1990]. The biochemical phenotype was characterized by significant post‐translational over modification of the mutated type 1 collagen molecules which also had a 3–4°C decrease in their thermal unfolding. Also, secretion of the procollagen into the culture media was delayed. In the second family, the proposita's muscle fibroblasts synthesized and secreted type I procollagen molecules that were highly over‐modified along the entire length of their triple‐helical domain. Cells from the mother also synthesized normal and over‐modified protein, although the amount of over‐modified protein was less than that synthesized by her daughter's cells. The exact molecular defect has not yet been defined.The simplest explanation for the phenotypic variability seen within these 2 families is that the mothers of the propositi are mosaic for their respective mutations so that not all of their somatic cells produce abnormal type I procollagen. Hence, one additional explanation for the phenotypic variability in OI is the abundance of the mutated allele or the degree of mosaicism in the patient's population of cells so that the first affected individual in a family may be mildly affected by a mutation which in a heterozygous form is potentially lethal in his or her offspring.
Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28
Authors: Adès L. C. , Gedeon A. K. , Wilson M. J. , Latham M. , Partington M. W. , Mulley J. C. , Nelson J. , Lui K. , Sillence D. O. 
Published: June 2005

AbstractBarth syndrome is an X‐linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was non‐recombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome. © 1993 Wiley‐Liss, Inc.
Elevated human chorionic gonadotropin levels in pregnancies with sex chromosome abnormalities
Authors: Barnes‐Kedar I. , Amiel A. , Maor O. , Fejgin M. 
Published: June 2005

AbstractNumerous reports have dealt with the usefulness of the maternal serum alpha‐fetoprotein marker (MsAFP) and human chorionic gonadotropin (MshCG) levels in the detection of Down syndrome (DS) and other autosomal trisomies. Only few reports have discussed the possible association of elevated levels of MshCG and sex chromosome aneuploidy. We wish to report on 3 cases in which this association was found. © 1993 Wiley‐Liss, Inc.
Segregation analysis of hypospadias: A reanalysis of published pedigree data
Authors: Harris Emily L. , Beaty Terri H. 
Published: June 2005

AbstractLittle is known about the cause of hypospadias, one of the most common urogenital anomalies in males. Familial clustering of hypospadias is well recognized, with heritability estimated to be about 70% under a simple multifactorial threshold model. Neither alternative genetic mechanisms nor shared environmental factors within families have been explored fully. To learn more about possible genetic mechanisms, we used 2 methods of segregation analysis to analyze a set of published family data.These analyses are based on the families of 103 probands with hypospadias, who were ascertained through surgery departments in Denmark [Sørensen, 1953]. Urogenital examinations were performed on 95% (n = 1,510) of available male relatives, and 2.2% were found to have hypospadias. Within the probands' nuclear families, 12% of nonproband sons of normal fathers were affected. Using the mixed model of inheritance, both the autosomal dominant (AD) and codominant models fit these data better than either autosomal recessive (AR) or multifactorial models. Using the regressive logistic models, both AD and AR models were equally likely, and a model of nonMendelian sibship clustering gave a better fit to these data.These inconsistent findings illustrate the difficulties commonly encountered in segregation analysis. Using 2 different statistical approaches, we found 2 different explanations, both of which differ from the autosomal recessive model originally suggested by Sørensen [1953]. Hypospadias in these families is almost certainly heterogeneous. Determining the cause of familial clustering of hypospadias will require careful delineation of persons with recognized syndromes from uncomplicated cases and detaied information on potential prenatal risk factors. © 1993 Wiley‐Liss, Inc.
Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis‐van creveld syndrome)
Authors: Qureshi Faisal , Jacques Suzanne M. , Evans Mark I. , Johnson Mark P. , Isada Nelson B. , Samuel Yang S. 
Published: June 2005

AbstractChondroectodermal dysplasia (CED) is an uncommon autosomal recessive disorder and one of the short rib polydactyly syndromes (SRPS). It is characterized by acromelic and mesomelic shortness of limbs, postaxial polydactyly, small chest, ectodermal dysplasia, and in many cases, congenital heart defects. Controversy exists over possible changes in the growth plate. With the advent of ultrasonographic examination, increasing numbers of fetuses with osteochondrodysplasias are examined by pathologists. Since histopathologic examination of the skeletal system is useful in defining various osteochondrodysplasias and it has not been described in the fetus with CED, we herein describe 3 cases of fetal CED with emphasis on skeletal histopathology. All 3 pregnancies were terminated at 22–23 weeks because of ultrasonographic demonstration of short limbs and growth retardation. Radiologically, each fetus had acromelic and mesomelic shortness of long bones with smooth round metaphyses, vertically short iliac bones, short ribs and normal vertebrae. These findings are similar to those described in the larger newborn infant with CED. Histopathologically, the cartilage of the long bones showed chondrocytic disorganization in the physeal growth zone. The findings are dissimilar to those of larger infants and older children in whom chondrocytic columnization has been seen in the central physis and disorganization in peripheral physis. Furthermore, a variable degree of chondrocytic disorganization was also seen in the central physeal growth zone of vertebrae in these fetuses. Other findings noted at fetopsy were: polydactyly in all 3 cases, congenital heart defect in 2 and an abnormal frenulum in one case. The foregoing phenotypic and radiographic manifestations and skeletal histopathology help separate CED from other SRPS. © 1993 Wiley‐Liss, Inc.
Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage
Authors: Stanescu Ritta , Stanescu Victor , Muriel Marie‐Paule , Maroteaux Pierre 
Published: June 2005

AbstractWe have performed histochemical, immunohistochemical, electron microscopic, and bio‐chemical studies on the upper tibial cartilage from a case of multiple epiphyseal dysplasia, Fairbank type.Most chondrocytes had intracytoplasmic inclusions which took the stains for proteins and were resistant to microbial collagenase digestion. The electron microscopic study showed that the inclusions are dilatations of the rough endoplasmic reticulum containing a material with alternately wide electron dense and electron lucent layers. Both in optical and in electron microscopy the inclusions fixed antibodies against the core protein of the large cartilage proteoglycans (aggrecans). They didn't stain with antibodies against type II collagen. The gel electrophoretic pattern of the large proteoglycans was different from normal controls.The morphologic and biochemical alterations found in multiple epiphyseal dysplasia are similar to those already described in pseudoachondroplasia (Stanescu et al.: Eur J Pediatr 138:121–225, 1982; Stanescu et al.: J Bone Joint Surg 66A:817–836, 1984). However, the inclusions are smaller and the growth cartilage much less disorganized in multiple epiphyseal dysplasia.The similarity of morphologic and biochemical abnormalities strongly suggests that the two diseases have a similar pathogenesis and belong to the same bone dysplasia family. © 1993 Wiley‐Liss, Inc.