bluuebunny/crossref_metadata_2025_split huggingface dataset:
Complicated hereditary spastic paraparesis with cerebral white matter lesions
Authors: Gutmann David H. , Fischbeck Kenneth H. , Kamholz John 
Published: June 2005

AbstractA family is described with 5 males in a single generation affected with a previously undescribed complicated form of hereditary spastic paraparesis (HSP). The disease is characterized by speech difficulties, lower limb spasticity and hyper‐reflexia, mental retardation, cerebellar ataxia, and tremor. The disease starts in the first decade of life and progresses for 3 to 6 years before stabilizing. Magnetic resonance imaging (MRI) of the brain demonstrates bilateral posterior peri‐ventricular white matter lesions. Visual evoked responses are markedly prolonged, but electromyography (EMG) and nerve conduction velocity studies are normal. Three of the 4 living affected members of this pedigree exhibit red‐green color vision defects. The presentation of a new complicated hereditary spastic paraparesis syndrome in this pedigree extends our understanding of the variability and heterogeneity of this syndrome and suggests an approach for the evaluation of similar families in future genetic studies.
An unusual type of acrocephalosyndactyly with bilateral parietooccipital “encephalocele”, micropenis, and severe mental retardation
Authors: Lorenz Peter , Rupprecht Edgar , Tellkamp Harald 
Published: June 2005

AbstractHere we report on a 2 year 3‐month‐old boy with acrocephalosyndactyly, a bilateral parietooccipital “encephalocele”, micropenis, and severe mental retardation. To our knowledge there are no other reports of similarly affected patients in the literature.
Restrictive dermopathy with distinct morphological abnormalities
Authors: van Hoestenberghe Marie‐Rose , Legius Eric , Vandevoorde Wim , Eykens Albert , Jaeken Jaak , Eggermont Ephrem , Devos Rita , De Wolf‐Peeters Chris , Fryns Jean‐Pierre 
Published: June 2005

AbstractA newborn child is described with the fetal hypokinesia sequence as a consequence of a restrictive dermopathy. Remarkable findings in this infant were neonatal teeth and survival till age 4 months. Ultrastructural examination of the skin showed thin epidermis and absence of elastic fibres.
Overo lethal white foal syndrome: Equine model of aganglionic megacolon (Hirschsprung disease)
Authors: McCabe Linda , Griffin Lisa D. , Kinzer Andrew , Chandler Marge , Beckwith J. Bruce , McCabe Edward R. B. 
Published: June 2005

AbstractThe lethal white foal syndrome (LWFS) is a congenital abnormality of overo spotted horses which is a model for human aganglionic megacolon or Hirschsprung disease. Foals with LWFS have an all white, or nearly all white, coat. They also present clinically with an intestinal obstruction that proves fatal within the first few days of life. The LWFS involves both melanocytes and intestinal ganglion cells, and appears to result from a genetic defect involving neural crest cells. This report describes pathologic studies of two recent cases of LWFS. Two different hypothetical models of inheritance of LWFS are presented and discussed.
Acheiropodia: Report on four new Brazilian patients
Authors: Fett‐Conte A. C. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on 4 new patients with acheiropodia (“the handless and footless families of Brazil”). This autosomal recessive condition involves all 4 limbs with a well‐defined pattern of defects. Two of the patients described here had a small bone fragment in the upper stumps (Bohomoletz bone), an uncommon finding in acheiropodia.
Urinary tract anomalies associated with congenital diaphragmatic defects
Authors: Siebert Joseph R. , Benjamin Denis R. , Juul Sandra , Glick Philip L. 
Published: June 2005

AbstractAnomalies of the urinary tract occur in some 13–27% of infants with congenital posterolateral diaphragmatic defect (CDD) and are often severe (renal agenesis, dysplasia, hypoplasia, or hydronephrosis). To test the hypothesis that urinary and diaphragmatic anomalies share elements of pathogenesis, we reviewed 60 autopsy cases of CDD studied at our institution. Sixteen patients (27%) manifested anomalies of the urinary tract: 12 had markedly altered kidneys, 8 of which were unilateral and ipsilateral to the diaphragmatic defect. Among 27 patients free of gross urinary tract anomalies, kidney weights formed a skewed distribution, with most values above published norms for body weight; by analysis of covariance, kidney weight (as a function of body weight) was significantly greater in CDD than in a control population of infants free of chronic illnesses and congenital anomalies who died suddenly and unexpectedly. Differences in glomerular number and diameter could not be identified between the latter groups. In 71% of patients with isolated left CDD, the left kidney was heavier than the right, a reversal of the usual condition in infancy. These findings demonstrate that both marked and subtle changes of the urinary tract in CDD are generally ipsilateral to the diaphragmatic defect and suggest that the pathogenetic mechanisms responsible for urinary and diaphragmatic anomalies may overlap topographically. Aberrant morphogenesis within a developmental field or fields is one explanation for this.
Segregation analysis of the X‐chromosome in a family with rett syndrome in two generations
Authors: Anvret Maria , Wahlström Jan , Skogsberg Per , Hagberg Bengt 
Published: June 2005

AbstractWe report on the first family in which Rett syndrome (RTS) appeared in two consecutive generations. The index case is a 12‐year‐old girl (classical RTS); her maternal aunt, age 44 years, has mild RTS. Clinically, the family illustrates the wide phenotypic variability between cases, particularly in severity of neurological manifestations. We have analyzed the short arm of the X‐chromosome of the family with gene technology. This did not uncover any genetic marker for diagnosis, but it did suggest how the syndrome might have segregated in the family. A cytogenetic analysis gave no information about chromosome abnormalities.
Oral motor dysfunction in individuals at risk of huntington disease
Authors: Coleman Ralph , Anderson Daryl , Lovrien Everett 
Published: June 2005

AbstractWe studied the performance of 34 as yet undiagnosed individuals known to be at risk of Huntington disease (HD), on a maximum‐effort oral‐motor task. Results were compared with those from a normal control group matched for age and sex. The at‐risk‐of‐HD population was significantly slower overall than the normal group on all 5 of the oral‐motor tasks. This is interpreted as indicating that the presence of HD in the one half of the population expected to have it, affected the group's overall performance even though the clinical signs associated with HD had not yet appeared. In addition, rankings of repetition rates in both groups indicate that approximately one half of the at‐risk population was consistently associated with the slowest 25% of the combined groups forming, in essence, a subgroup of the at‐risk population. The performance of the other one half of the at‐risk group did not differ systematically from that of the normal control persons. Minimal repetition rates were identified on each oral‐motor task that may serve as early clinical “indicators” for the presence of HD in the population known to be at risk.
De novo (15;21) unbalanced translocation of paternal origin in a girl with prader‐willi syndrome
Authors: Cuoco C. , Bicocchi M. P. , Granata D. , Mezzano P. , Serra G. 
Published: June 2005

AbstractWe describe a 3‐month‐old girl with Prader‐Willi syndrome and a de novo unbalanced karyotype 45,XX,t(15;21)(q13;q22.3). This rearrangement, resulting in monosomy for the pericentromeric region of chromosome 15 and a virtual monosomy for the 21q distal band, had a paternal origin as demonstrated by Q and NOR staining.
Dandy‐walker variant malformation, spastic paraplegia, and mental retardation in two sibs
Authors: Stoll Claude , Huber Christian , Alembik Yves , Terrade Eliette , Maitrot Daniel 
Published: June 2005

AbstractTwo sibs, a boy and a girl, had both hypo‐plasia of the cerebellar hemispheres and partial agenesis of the cerebellar vermis with normal communication between the fourth ventricle and arachnoid spaces, i.e., the manifestations of the Dandy‐Walker variant malformation associated with agenesis of the corpus callosum.Both sibs were mentally retarded and had spastic paraplegia. The occurrence of a distinct and similar pattern of congenital anomalies in sibs born to healthy parents points toward a “new” syndrome caused by the homozygous state of an autosomal recessive gene. Prenatal ultrasonographic diagnosis is possible at least for the more severe form of the brain anomalies.
Limb reduction defects and renal dysplasia: Confirmation of a new, apparently lethal, autosomal recessive MCA syndrome
Authors: Schrander‐Stumpel Constance , de Die‐Smulders Christine , Fryns Jean Pierre , da Costa Joost , Bouckaert Peter 
Published: June 2005

AbstractWe report on 2 sibs, a male and a female, who died shortly after birth from respiratory failure. They combined growth retardation with a Potter‐like face, complete phocomelia of the upper limbs, rib anomalies (mainly severe hypoplasia of the 6 upper ribs), renal dysplasia, and external genital abnormalities. We hypothesize that these cases represent evidence for the existence of the “new syndrome” described by Ulbright et al. (Am J Med Genet 17:667–668, 1984). This syndrome appears lethal because of the severe renal dysplasia that causes oligohydramnios and pulmonary hypoplasia. Its mode of inheritance seems to be autosomal recessive.
Characterization of deletions in the dystrophin gene giving mild phenotypes
Authors: Love Donald R. , Flint Tracey J. , Marsden Rosalind F. , Bloomfield Jennifer F. , Daniels Rachael J. , Forrest Susan M. , Gabrielli Orazio , Giorgi Pierluigi , Novelli Giuseppe , Davies Kay E. 
Published: June 2005

AbstractWe have characterized deletions of the dystrophin gene in patients suffering from relatively mild muscular dystrophy. Our data show that most of the Becker muscular dystrophy (BMD) patients have intragenic deletions which leave the protein reading frame in phase. Remarkably, large deletions of the region corresponding to the central triple helical repeats in the protein can result in an exceptionally mild phenotype. Three brothers suffering from BMD, glycerol kinase deficiency, and adrenal hypoplasia possess a deletion at the 3′ end of the gene. They also display developmental delay. Thus the 3′ processing of the gene must be necessary for the correct function of the dystrophin molecule.
An animal model of the marfan syndrome
Authors: Besser Thomas E. , Potter Kathleen A. , Bryan Gary M. , Knowlen Grant G. 
Published: June 2005

AbstractA congenital syndrome of long, thin limbs, severe joint and tendon laxity, micro‐spherophakia, ectopia lentis, heart murmurs and aortic dilatation was identified in 7 calves. All affected calves were sired by a single phenotypically normal bull suspected of germline mosaicism for a new mutation resulting in this disease. One of the calves subsequently died with ruptured aorta at age 16 months. Histopathologic and electron microscopic studies of the aortic media of affected calves demonstrated disorganized elastin and narrowed elastic lamina separated by widened spaces. This bovine disease provides a unique animal model of the human Marfan syndrome. A herd of cattle with this disease is being developed for further studies.
Rearrangement of chromosome 15 in the region q11.2→q12 in an individual with obesity syndrome and her normal mother
Authors: Shohat M. , Shohat T. , Rimoin D. L. , Mohandas T. , Heckenlively J. , Magenis R. E. , Davidson M. B. , Korenberg J. R. 
Published: June 2005

AbstractRearrangements of the proximal long arm of chromosome 15 have been found in most patients with the Prader‐Willi syndrome (PWS) and in some with Angelman syndrome. We present an individual with syndromic obesity and her normal mother, who both have an abnormal chromosome 15. The proposita is a 26‐year‐old woman with marked obesity, acanthosis nigricans, short fingers, and severe cone degeneration of the retina. She has high plasma insulin levels, hypothyroidism, and an empty sella on CT scan. High‐resolution chromosome banding demonstrated an increase in band 15q12. Further analysis showed the same abnormal 15 in her normal mother but not in her normal sister. This case and recent reports in the literature indicate that duplications of chromosome 15q in the PWS region may be associated with a syndrome of obesity, acanthosis nigricans, empty sella, and rodcore dystrophy as well as with a normal phenotype. Whether normal individuals with such a duplication carry increased risk of having offspring with an obesity syndrome is yet to be determined.
Chondrodysplasia punctata, tibia‐metacarpal (MT) type
Authors: Rittler M. , Menger H. , Spranger J. 
Published: June 2005

AbstractWe describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.
GAPO syndrome (McKusick 23074)—A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older
Authors: Wajntal Anita , Koiffmann Célia P. , Mendonça Berenice B. , Epps‐Quaglia Dorina , Sotto Myriam Nacagami , Rati Patrícia B. M. , Opitz John M. 
Published: June 2005

AbstractGAPO syndrome was described in 12 patients from 7 families. Constant manifestations include dwarfism, alopecia, pseudoanodontia, and a peculiar, “geriatric” facial appearance. We describe the autopsy findings and all available clinical data on one deceased patient and his living affected sister, previously reported as short abstracts (Epps et al.: Cienc Cult 29(Suppl):740, 1977; Wajntal et al.: Cienc Cult 34(Suppl):705, 1982). Both had the characteristic anomalies of this syndrome but optic atrophy was absent; instead, they had glaucoma and keratoconus; hypogonadism was present in both patients. Biopsy and autopsy findings show that the GAPO syndrome is a dyshistogenetic sequence due to accumulation of extracellular material and thus should be called GAPO dysplasia. We suggest that the basic defect in this autosomal recessive disorder is possibly related to a lack of breakdown of the extracellular components, perhaps due to an enzyme deficiency involved in the metabolism of extracellular matrix.
Central nervous system malformations in the CHARGE association
Authors: Lin Angela E. , Siebert Joseph R. , Graham John M. 
Published: June 2005

AbstractOf 144 patients with the CHARGE association (literature 136, new patients 8), 47 (33%) had either a postmortem examination (30) or computerized axial tomography scan (17) of the head. Twenty‐six of 47 (55%) had definite central nervous system (CNS) malformations: arhinencephaly, with or without other defects (11), holoprosencephaly (2), holoprosencephaly with arhinencephaly (1), other forebrain defects (3), hindbrain defects (3), or other defects (6). The presence of CNS malformation was most strongly associated with choanal atresia. This review demonstrates a predominance of forebrain anomalies, particularly arhinencephaly and holoprosencephaly, which may provide a clue to the mechanism of abnormal morphogenesis involved in CHARGE association.
Multiple endocrine neoplasia: How many syndromes?
Authors: Schimke R. Neil 
Published: June 2005

AbstractThe phrase multiple endocrine neoplasia (MEN) generally denotes an association of tumors so specific as to constitute a syndrome. Three well‐recognized such syndromes exist. All are autosomal dominant traits and all have been tentatively mapped to specific chromosomes. Other purported endocrine tumor syndromes have been suggested either as new entities or as subtypes of the existing MEN syndromes. The evidence in favor of these contentions is examined critically. Only one “new” association. That of pheochro‐mocytomas and islet cell tumors, seems reasonable, and even in this setting, some relatives have had manifestations of von Hippel‐Lindau syndrome. There is no compelling reason why such conditions as von Hippel‐Lindau syndrome, peripheral neuro‐fibromatosis, McCune‐Albright syndrome, and others should be reclassified as MEN syndromes, although awareness of their collective endocrine abnormalities is clinically important.
Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations
Authors: Ramer Jeanette C. , Mowrey Philip N. , Robins David B. , Ligato Saverio , Towfighi Javad , Ladda Roger L. 
Published: June 2005

AbstractFive matings to a dir ins (6;2)(q16aq31q33) carrier have produced a high frequency (42%) of offspring with unbalanced karyotypes. Five children have the derivative chromosome 2 resulting in del (2)(q31q33) and one individual received the derivative chromosome 6 leading to dup (2)(q31q33). The findings associated with the deletion include pre‐ and postnatal growth retardation, developmental delay, minor facial anomalies, seizures, complex structural heart defects, and limb deficiency. Autopsy of one individual showed complex brain malformations including hydrocephalus secondary to obstruction of the foramina of Monro, extensive heterotopias and polymicrogyria, and an unusual form of total anomalous pulmonary venous return. We compare the findings in these children to those of previously reported cases and construct an overview of the range of anomalies. Apparently, no other individual with dup (2)(q31q33) has been described. We compare the physical peculiarities of our patient with those of individuals with duplications of over‐lapping regions of 2q.
Homozygous achondroplasia: Morphologic and biochemical study of cartilage
Authors: Stanescu Ritta , Stanescu Victor , Maroteaux Pierre 
Published: June 2005

AbstractWe have performed histochemical, immunohistochemical, electron microscopic, and biochemical studies on the upper tibial cartilage from a case of homozygous achondroplasia.The growth zone was narrow and disorganized. Columnization was absent except for a few areas with short rows of cells. Hypertrophy was reduced to scattered clusters of cells. The provisional calcification was patchy and primary trabeculae were thick and irregularly arranged. Islands of fibrous or fibrocartilagineous tissue were found along the growth zone. The matrix did not stain with safranin O and lacked metachromasia, except for pericellular rims around the hypertrophic cell clusters. Staining with antibodies against the large proteoglycan monomers and chondroitin‐4‐sulfate was weakly positive. Electron microscopic examination showed that only a few cells had degenerative signs. In most areas of the matrix, proteoglycan granules were absent. Areas with dense collagen fibers were seen.In contrast to the growth zone, the cartilage of the remaining epiphyses had normal histochemical, immunohistochemical, and electron microscopic appearance.The large proteoglycan monomers had a normal composition and hydrodynamic size. Type II and XI collagen, pepsin fragments of type IX collagen, and several noncollagenous proteins extracted from cartilage had a normal electrophoretic migration.It is suggested that a mutation affecting a matrix component or a regulatory pathway present only or predominantly in the growth area of the chondroepiphysis might explain the findings.
Congenital heart disease and Robinow syndrome: Coincidence or an additional component of the syndrome?
Authors: Webber Steven A. , Wargowski David S. , Chitayat David , Sandor George G. S. 
Published: June 2005

AbstractWe report on a girl with Robinow syndrome and pulmonary atresia with ventricular septal defect (VSD). Seven cases of Robinow syndrome with congenital heart defect (CHD) have now been described, 5 of whom had stenosis or atresia of the pulmonic valve. This suggests that CHD, especially right ventricular outlow obstruction, may be a component manifestation of this syndrome in some cases. Since early recognition of this type of heart lesion can minimize morbidity by facilitating optimal surgical therapy, thorough cardiac evaluation of all patients with Robinow syndrome seems warranted.
Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6
Authors: Weissbecker K. A. , Durner M. , Janz D. , Scaramelli A. , Sparkes R. S. , Spence M. A. 
Published: June 2005

AbstractJuvenile myoclonic epilepsy (JME) is a generalized, non‐progressive epilepsy characterized by an adolescent onset of sudden, involuntary myoclonic jerks. Greenberg et al. (American Journal of Medical Genetics 31:185–192, 1988b; Cytogenetics and Cell Genetics 51:1008, 1989b) reported tight linkage of a JME locus to the HLA region of chromosome 6p. We confirm this linkage assignment, although at a larger recombination fraction than previously reported.Twenty‐three, mostly nuclear, families were ascertained through a JME proband. The affected status of relatives of the probands was assigned by 4 different clinical criteria, and separate analyses were done assuming an autosomal dominant model with 90% penetrance and an autosomal recessive model with full penetrance. A linear age‐of‐onset correction with maximum penetrance at age 20 years was incorporated into the analyses. The maximum lod score obtained was 3.11 at Θm = 0.001, Θf = 0.20, assuming autosomal dominant inheritance and using the second definition of the disease phenotype. There was strong support for linkage using the other phenotype definitions and the autosomal dominant model, although the lod scores did not exceed 3.0. There was also support for linkage of a JME locus to this region under the autosomal recessive model, although the results varied depending upon the definition of the disease phenotype. There was no significant evidence for linkage heterogeneity.
VATER and hydrocephalus: Distinct syndrome?
Authors: Iafolla A. Kimberly , McConkie‐Rosell Allyn , Chen Yuan Tsong 
Published: June 2005

AbstractVACTERL association with hydrocephalus is rarely reported, and is thought to be an autosomal recessive uniformly lethal disorder distinct from the VATER association. We have observed 3 patients in a 12‐month period with hydrocephalus due to aqueductal stenosis, in addition to vertebral anomalies (3/3), anal anomalies (3/3), cardiac anomalies (3/3), tracheoesophageal fistula (1/3), renal anomalies (3/3), limb anomalies (3/3), single umbilical artery (2/3), hypospadias (1/3), and cryptorchidism (1/2). Chromosomes were normal in all cases. Although one patient died in the neonatal period due to respiratory failure, 2 have survived (30 months and 19 months) with good neurological outcome following early neurosurgical treatment. Although delayed in motor development, both are interactive, social, and continue to make developmental progress. Appropriate surgical treatment, including early ventriculoperitoneal shunting, allowed for the survival of 2 patients with an unexpectedly good outcome. Our experience suggests that the extremely poor prognosis previously ascribed is not universal. We caution against labeling this syndrome as a uniformly lethal, developmentally devastating disorder.