bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inverted duplication of 8p: Ten new patients and review of the literature
Authors: Feldman Gerald L. , Weiss Lester , Phelan Mary C. , Schroer Richard J. , VanDyke Daniel L. 
Published: June 2005

AbstractWe evaluated 10 patients with an inverted tandem duplication of 8p. Inverted duplications of chromosome 8 have been reported infrequently, and no syndrome has been previously identified. All 8 patients on whom birth histories were available were hypotonic at birth, and had feeding difficulties in the neonatal period. All patients have significant developmental delay. Manifestaions present in 5 or more patients were prominent forehead, high arched palate, large mouth with a thin upper lip, malformed and/or apparently lowset ears, broad nasal bridge, dental and skeletal abnormalities, and joint laxity or hyperextensibility. Variation in the phenotype may, in part, be explained by the different breakpoints. Recurrence risks of de novo rearrangements are probably very low, but for the recombinants the risk may be significant.The duplication appeared to be de novo in 6 patients (both parental karyotypes were normal); maternal karyotypes were normal in 2 patients, and both parrents of 1 patient were not available. One propositus had a monocentric recombinant of a paracentric inv(8) (p12p23.3) carried by the mother, and is one of only 6 known cases of duplication associated with a balanced paracentric inversion in a parent. The carrier parent was the mother in 5 of those 6 cases. Each case involved a different chromosome, and each probably was created by an unusual meiotic recombination event.Inverted duplication 8p is one of the most common duplications observed in our laboratories, and ranks in frequency with the classical deletions, such as Wolf‐Hirschhorn and cri‐du‐chat syndromes and duplication or secondary trisomy 15ql. Since 1/7 cases with complete parental karyotypes was associated with a familial rearrangement, parental karyotype studies should be considered in all cases of tandem duplication. © 1993 Wiley‐Liss, Inc.
Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies
Authors: Urioste Miguel , Rodríguez José I. , Barcia José M. , Martín Martín , Escribá Rosa , Pardo Marina , Camino J. , Frías MaríA Luisá Martínez‐ 
Published: June 2005

AbstractWe describe 3 unrelated newborn males with a previously unreported constellation of conenital anomalies. All 3 died neonatally of hepatic failure. Clinically, they presented with a pattern of malformations characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All 3 cases had male extenal genitalia with cryptorchidism, and 2 of them, a small penis. Necropsies showed similar internal anomalies, consisting müllerian duct remnants, lymphangiectasis, and renal anomalies. The karyotypes were normal (46, XY) in skin fibroblasts (Case 1) and in peripheral blood lymphocytes (Case 3).Although this pattern of congenital anomalies must be differentiated from several other lethal syndromes, to our knowledge, no similar cases have been described previously.Cause of this syndrome is unknown. Because Case 2 had a previous brother with similar anomalies, we suspect that this new entity probably is an autosomal recessive or X‐linked trait. © 1993 Wiley‐Liss, Inc.
Nonimmune hydrops fetalis in a 49,XXXXY fetus at 16 menstrual weeks
Authors: Hovav Y. , Nadjari M. , Dagan J. , Kafka E. , Yaffe H. 
Published: June 2005

AbstractAmniocentesis of a fetus with a sonography diagnosis of nonimmune hydrops fetalis and bilateral clubfoot deformity at 16 weeks of gestation showed a chromosome constitution 49,XXXXY. © 1993 Wiley‐Liss, Inc.
Non‐allelic heterogeneity of familial adenomatous polyposis
Authors: Tops Carli M. J. , Van Der Klift Heleen M. , Van Der Luijt Rob B. , Griffioen Gerrit , Taal Babs G. , Vasen Hans F. A. , Khan P. Meera 
Published: June 2005

AbstractLinkage studies on familial adenomatous polyposis (FAP) reported so far suggest that FAP is a genetically homogeneous disease. Recently, we found that the putative gene for Turcot syndrome, an apparently autosomal recessive clinical variant of FAP, is not allelic to FAP. Here we describe another family, segregating for an autosomal dominant disease clinically indistinguishable from FAP but genetically not linked to the APC locus, adding further evidence for the occurrence of non‐allelic heterogeneity of FA. These observations have implications to the linkage‐based genetic counselling of persons at risk for FAP especially when they are drawn from small families giving insufficient information. © 1993 Wiley‐Liss, Inc.
Saethre‐Chotzen syndrome with familial translocation at chromosome 7p22
Authors: Reid Cheryl S. , McMorrow Lydia E. , McDonald‐McGinn Donna M. , Grace Kimberly J. , Ramos Feliciano J. , Zackai Elaine H. , Cohen M. Michael , Jabs Ethylin Wang 
Published: June 2005

AbstractChromosome analysis of a male infant and his mother with Saethre‐Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre‐Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region. © 1993 Wiley‐Liss, Inc.
Compromise of the spinal canal in Proteus syndrome
Authors: Skovby Flemming , Graham John M. , Sonne‐Holm Stig , Cohen M. Michael 
Published: June 2005

AbstractWe report on 2 children with spinal stenosis and neurologic sequelae. They illustrate the 2 ways in which spinal compromise may develop in Proteus syndrome—vertebral anomalies or tumor infiltration. In one patient, spinal stenosis resulted from an angular kyphoscoliosis. In the other, cord compression resulted from infiltration of a paraspinal, intra‐thoracic angiolipoma. © 1993 Wiley‐Liss, Inc.
Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X‐linked dominant catania form of acrofacial dysostosis
Authors: Opitz John M. , Mollica Florindo , Sorge Giovanni , Milana Gabriella , Cimino Gabriella , Caltabiano Mario 
Published: June 2005

AbstractThe acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée‐Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well‐documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri‐Costa et al., and the AD Patterson–Stevenson–Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X‐linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons. © 1993 Wiley‐Liss, Inc.
Difference in methylation patterns within the D15S9 region of chromosome 15qll–13 in first cousins with Angelman syndrome and Prader–Willi syndrome
Authors: Clayton‐Smith Jill , Driscoll Daniel J. , Waters Michael F. , Webb Tessa , Andrews Tony , Malcolm Sue , Pembrey Marcus E. , Nicholls Robert D. 
Published: June 2005

AbstractAbnormalities of chromosome region 15qll–13 are associated with Angelman syndrome (AS) and Prader–Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15qll–13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15qll–ql3. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin. © 1993 Wiley‐Liss, Inc.
Rieger syndrome revisited: Experimental approaches using pharmacologic and antisense strategies to abrogate EGF and TGF‐α functions resulting in dysmorphogenesis during embryonic mouse craniofacial morphogenesis
Authors: Slavkin Harold C. 
Published: June 2005

AbstractThe major manifestations of Rieger syndrome (RS), an autosomal dominant disorder, include absent maxillary incisor teeth, malformations of the anterior chamber of the eye, and umbilical anomalies [Aarskog et al., 1983: Am J Med Genet 15:29–38; Gorlin et al., 1990: “Syndromes of the Head and Neck” 3rd ed.]. Linkage of RS to human chromosome 4q markers has been identified with tight linkage to epidermal growth factor (EGF) [Murray et al., 1992: Nat Genet 2:46–48]. Mutations associated with genes of the EGF superfamily are implicated in malformations arising from abnormal development of the first branchial arch [Ardinger et al., 1989: Am J Hum Genet 45:348–353; Sassani et al., 1993: Am J Med Genet 45:565–569]. Down‐regulation of EGF during early mouse development results in ablation of tooth formation [Kronmiller et al., 1991: Dev Biol 147:485–488]. Since EGF, TGF‐α, and EGF receptor (EGFr) transcripts are expressed in the mouse first branchial arch and derivatives, experimental strategies were employed to investigate the consequences of down‐regulation of EGF translation and inhibition of EGF receptor during embryonic mandibular morphogenesis. Antisense inhibition of EGF expression produces mandibular dysmorphogenesis with decreased tooth bud size; these effects are reversed by the addition of exogenous EGF to the culture medium [Shum et al., 1993: Development 118:903–917]. TVrphostin RG 50864, which inhibits EGF receptor kinase activity, inhibits EGF or TGF‐α stimulation of tyrosine phosphorylation in a concentration‐dependent manner and severely retards mandibular development [Shum et al., 1993: Development 118:903–917]. These findings and the other evidence analyzed in this review support the hypothesis that RS represents abrogations of endogenous EGF signaling to regulate the size and shape of tooth formation during maxillary and mandibular morphogenesis. © 1993 Wiley‐Liss, Inc.
Anthropometric craniofacial pattern profiles in Down syndrome
Authors: Allanson J. E. , O'Hara P. , Farkas L. G. , Nair R. C. 
Published: June 2005

AbstractA series of 21 anthropometric craniofacial measurements was performed on 199 individuals with Down syndrome (DS), age 6 months to 61 years. These were compared to age and sex‐matched normal standards, and Z score pattern profiles were constructed. These profiles confirmed brachycephaly and reduced ear length. With increasing age, maxillary growth was reduced in comparison to mandibular growth. Clinically, this was manifested by a change in facial shape from the characteristic round face of infancy to an oval shape in later life. Stepwise forward discriminant function analysis identified a subset of three variables (ear length, maxillary arc, and upper facial depth) which could accurately classify greater than 99% of the individuals in the combined sample of affected and unaffected individuals. Of the subjects with DS, 96.8% were classified correctly. These findings demonstrate the usefulness of anthropometric craniofacial pattern profiles in defining abnormal facial dimensions in particular syndromes and documenting the changes that occur with age. The technique should facilitate syndrome recognition, identification of carriers, and comparisons between syndromes. © 1993 Wiley‐Liss, Inc.
Cognitive skills in achondroplasia
Authors: Brinkmann G. , Schlitt H. , Zorowka P. , Spranger J. 
Published: June 2005

AbstractIncreased intracranial pressure and ventricular and subarachnoidal dilatation are common manifestations in achondroplasia. They rarely lead to major neurologic and/or psychomotor deficits and neurosurgical intervention is seldom needed. The present study was undertaken to detect signs of minor cerebral dysfunction and discuss possibilities of their prevention.Thirty children with achondroplasia were compared to 3 control groups: their next‐born sibs, 30 children with other forms of dwarfism, and 30 children with normal height. Early development was assessed by means of questionnaires. Cognitive skills were evaluated with the German version of the Cognitive Abilities Test and the Lorge‐Thorndike Intelligence Test. Personality data were tested using standardized neuroticism, extraversion, and anxiety scales.Children with achondroplasia had more frequent histories of delayed motor development, retarded speech development, and lower school grades in language‐related specialities. Psychometric testing disclosed total and subtest scores in the population‐based normal range. In comparison with their sibs and matched controls children with achondroplasia had significantly lower total scores mainly caused by low scores in the subtest “verbal comprehension”.We conclude that verbal comprehension is significantly impaired in children with achondroplasia. This partial deficiency is probably related to frequent middle ear infections and resulting conductive hearing loss. Hypotonia with delayed oropharyngeal muscle coordination and parental response to an altered, more infantile instinctive releasing pattern may be contributing factors. © 1993 Wiley‐Liss, Inc.
Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion
Authors: Kulharya Anita S. , Schneider Nancy R. , Wilson Golder N. 
Published: June 2005

AbstractTwo families and 3 patients with dup(10p)/del(10q) syndrome segregating from a maternal pericentric inversion are described, including a stillborn female with Potter sequence and multicystic renal dysplasia. Comparison of 32 dup(10p) patients to 11 del(10)(q25) patients emphasized dolichocephaly, wide sutures, frontal bossing, micrognathia, and renal defects as distinguishing characteristics of the dup(10p) syndrome. The 3 new and 6 previously reported dup(10p)/del(10q) patients had several manifestations in common with the dup(10p) and del(10q) syndromes, but were more typical of dup(10p) syndromes, with respect to all 5 distinguishing characters. © 1993 Wiley‐Liss, Inc.
Rod‐cone dystrophy, sensorineural deafness, and renal dysfunction: An autosomal recessive syndrome?
Authors: Beighton Peter , Bartmann Lecia , Bingham Gavin , Sellars Sean 
Published: June 2005

AbstractAn autosomal recessive syndrome of progressive rod‐cone dystrophy, sensorineural deafness, and renal dysfunction was identified in 14 children in 9 Afrikaner families in South Africa. The renal involvement, which is of the Fanconi type, leads to rickets‐like skeletal changes and kidney failure. Each of the children was initially misdiagnosed as having retinitis pigmentosa or Usher syndrome, on a basis of minor retinal pigmentation. This condition, which appears to be a hitherto undocumented entity, warrants differentiation from these disorders. © 1993 Wiley‐Liss, Inc.
Pathologic characterization of short‐chain acyl‐CoA dehydrogenase deficiency in BALB/cByJ mice
Authors: Armstrong Dawna L. , Masiowski Michael L. , Wood Philip A. 
Published: June 2005

AbstractBALB/cByJ mice have a deficiency of short‐chain acyl‐CoA dehydrogenase (SCAD) and are a useful model for studying the inborn errors of fatty acid metabolism which affect humans. Patients with some of these disorders present with hypoglycemia, hyperamonemia, and microvesicular fatty change of hepatocytes. In the present study we examined pathogen‐free, SCAD deficient BALB/cByJ mice and control BALB/cBy mice for biochemical and tissue changes following fasting or salicylate challenge. We observed mitochondrial swelling and microvesicular fatty changes in hepatocytes in mutant mice, especially severe following a fast. However, fasting did not alter their blood ammonia and there was no apparent clinical disease. Similarly, salicylates did not produce disease in the BALB/cByJ mice. We did detect in mice an alternative pathway for salicylate metabolism, by‐passing glycine conjugation which is the principal metabolic pathway in humans. © 1993 Wiley‐Liss, Inc.
On the variability of the Brachmann‐de Lange syndrome in seven patients
Authors: Leroy J. G. , Persijn J. , van De Weghe V. , van Heck R. , Oostra A. , De Bie S. , Craen M. 
Published: June 2005

AbstractThe results of the clinical and radiographic study of 7 patients support the view of a unimodal and rather narrow phenotypic spectrum in the Brachmann‐de Lange syndrome (BDLS) and reject the existence of a “classic” type of patient and a “mild phenotype” without upper limb defects who survive with moderate to severe mental retardation. Similarity among all patients is greater than their phenotypic differences. Strict clinical definition of the syndrome warrants easier access to the still unknown cause, most probably a single gene mutation with autosomal dominant inheritance. © 1993 Wiley‐Liss, Inc.
Hemimelia in Brachmann‐de Lange syndrome (BDLS): A patient with severe deficiency of the upper and lower limbs
Authors: Pfeiffer R. A. , Correll J. 
Published: June 2005

AbstractWe report on a male infant with Brachmann‐de Lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS. © 1993 Wiley‐Liss, Inc.
Congenital diaphragmatic hernia in the Brachmann‐de Lange syndrome
Authors: Cunniff Christopher , Curry Cynthia J. R. , Carey John C. , Graham John M. , Williams Charles A. , Stengel‐Rutkowski Sabine , Lüttgen Sabine , Meinecke Peter 
Published: June 2005

AbstractWe present 12 children with typical Brachmann‐de Lange syndrome and congenital diaphragmatic hernia. Affected children were more likely to be of low birth weight and to have major upper limb malformations. Hernia repair was attempted in 4 of these children, and only one survived past 12 months, Newborn infants with congenital diaphragmatic hernia should be examined carefully for evidence of the Brachmann‐de Lange syndrome because diagnosis of thes condition may influence their clinical management and prognosis. © 1993 Wiley‐Liss, Inc.
Gastrointestinal abnormalities: A significant cause of feeding difficulties and failure to thrive in Brachmann‐de Lange syndrome
Authors: Bull Marilyn J. , Fitzgerald Joseph F. , Hiefetz Stephen A. , Brei Timothy J. 
Published: June 2005

AbstractGastroesophageal abnormalities occur with increased frequency in patients with Brachmann‐de Lange syndrome (BDLS) and contribute to problems with feeding, emesis and failure to thrive. Comprehensive evaluation including longitudinal assessment of growth and development of 8 patients with BDLS was performed. Clinically significant feeding problems occurred in 6 of the 8 patients and the affected children were subsequently evaluated for gastrointestinal abnormalities. Findings in these patients included tracheal aspiration, esophageal dysmotility, gastroesophageal reflux, hiatal hernia, and esophagitis. Medical treatment was instituted where appropriate, and surgical treatment was performed if the problems did not resolve with medical treatment. Improvement in weight centiles occurred in all patients fed by nasogastric or feeding gastrostomy tube but only one patients appeared to experience increase in rate linear growth. Careful monitoring of symptoms and growth parameters, and prompt institution of appropriate medical and surgical measures can improve the health and physical outcome of many patients with BDLS. © 1993 Wiley‐Liss, Inc.
Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families
Authors: Dudin Anwar A. , Rambaud‐Cousson Annie 
Published: June 2005

AbstractTwo cases of Hirschsprung disease associated with infantile osteopetrosis are reported in 2 consanguineous families living in the same area. Both died early. © 1993 Wiley‐Liss, Inc.
Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies
Authors: McDowell Geraldine A. , Cowan Tina M. , Blitzer Miriam G. , Greene Carol L. 
Published: June 2005

AbstractIntrafamilial variability has not been reported previously in Hurler syndrome or Sanfilippo syndrome type A. We describe two families in which sibs with comparable deficiencies of α‐iduronidase (Hurler) or sulfamidase (Sanfilippo type A) activities in vitro nonetheless have divergence in clinical severity and disease progression. These cases underscore the need for caution in counseling as well as the limitations of using sibs as controls in evaluating the outcome of treatment. © 1993 Wiley‐Liss, Inc.
Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome
Authors: Ellison Kimberly A. , Roth E. Jill , McCabe Edward R. B. , Chinault A. Craig , Zoghbi Huda Y. 
Published: June 2005

AbstractRett syndrome is a neurodevelopmental disorder observed exclusively in females. A de novo X;3 translocation was detected in a patient (TH) with Rett syndrome. The X chromosomal breakpoint maps to Xp21.3 between the distal end of the Duchenne muscular dystrophy (DMD) gene and the DXS28 (C7) locus. To determine if this translocation caused the Rett syndrome in this patient, our efforts focused on mapping and cloning of the X chromosomal breakpoint in this patient. Toward these goals, we generated a set of radiation‐reduced hybrid cell lines for the short arm of the X chromosome to use as a source for region‐specific markers. Using Alu‐PCR, 13 new DNA markers were isolated from a radiation‐reduced hybrid, which retained both DMD and DXS28. These markers were localized within Xp21 using DNA from males with various interstitial deletions in this region. Two new markers, K23‐2p and K23b‐1, were found to be closer flanking markers to the X chromosomal breakpoint than DMD and DXS28. Long range restriction mapping using K23‐2p and K23b‐1 determined that the maximum distance between them was 800 kb. Several of the new markers were developed into sequence tagged‐sites and were used to isolate yeast artificial chromosome (YAC) clones. A total of 22 YAC clones was isolated and characterized; these YACs were then developed into 3 large contigs in the Xp21.3 region. This effort resulted in the cloning of the region containing the X chromosomal translocation breakpoint of the Rett syndrome patient in a 170‐kb YAC clone. © 1993 Wiley‐Liss, Inc.
Dup(lq)(q42→qter) syndrome: Case report and review of literature
Authors: Kennerknecht Ingo , Barbi Gotthold , Rodens Klaus 
Published: June 2005

AbstractWe report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners). The diagnosis of Russell‐Silver syndrome (RSS) had been considered but was abandoned when cytogenetic evaluation showed a partial trisomy lq or duplication lq (46,XY,15, + der(15)t(l;15)(q42;qter). Data from another 5 reports of dup(l)(q42→qter) do not allow delineation of a typical syndrome. However, individuals with dup(lq), del(15q), and Russell‐Silver syndrome share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, micrognathia, renal anomalies). © 1993 Wiley‐Liss, Inc.