bluuebunny/crossref_metadata_2025_split huggingface dataset:
Decrease in calcitonin‐containing cells in truncus arteriosus
Authors: Gamallo Carlos , García Marcial , Palacios José , Rodríguez José Ignacio 
Published: June 2005

AbstractExperimental studies in chick embryos have demonstrated that truncus arteriosus (TA), a form of conotruncal cardiac defect, is due to abnormalities in the cranial neural crest. However, no data are available to support this hypothesis in humans with isolated TA. In the present study, the assessment of calcitonin immunoreactive cells (C‐cells) has been employed to evaluate whether or not the proportion of thyroid cells derived from the cranial neural crest is normal in patients with isolated TA. Thyroid sections from 15 such patients in which no other extracardiac malformations were neither clinically nor pathologically found, and from 11 control age‐matched patients were studied immunohistochemically at autopsy in order to determine the number and distribution of calcitonin‐containing cells. The volume density of C‐cells (0.888%) and the number of C‐cells per follicle (0.991) was significantly lower in patients with TA than in control patients (3.475%, and 2.367, respectively). The decrease of neural crestderived cells in the thyroid of patients with “isolated” TA documents more extent abnormalities than clinically suspected and supports the hypothesis of neural crest disturbance as the pathogenetic factor responsible for this heart malformation. © 1993 Wiley‐Liss, Inc.
Mutations in von Recklinghausen neurofibromatosis: An hypothesis
Authors: Zlotogora Joël 
Published: June 2005

AbstractVon Recklinghausen neurofibromatosis or neurofibromatosis type I (NF1) is relatively frequent (1/3,000 livebirths) autosomal dominant condition. Some unusual aspects are noted in this disorder: new mutations are frequent and almost all are of paternal origin without parental age effect. The recurrence of NF1 among children of healthy parents is rare as opposed to other dominant disorders. I propose that in NF1 (1) new mutations occur often in somatic cells or in late germinal cells, however, they occur very rarely in early germinal cells leadding to germinal mosaicism and (2) the individual with somatic mosaicism presents symptoms of the disease. Therefore, an NF1 patient with an apparent new mutation is often a somatic mosaic for the mutation and if the mosaic is alo present in germinal cells some of his children will be affected. This hypotesis may explain the unusual aspects of mutation in NF1. © 1993 Wiley‐Liss, Inc.
Congenital scalp defects and vitreoretinal degeneration: Redefining the Knobloch syndrome
Authors: Seaver Laurie H. , Joffe Leonard , Spark Ronald P. , Smith Barbara L. , Hoyme H. Eugene 
Published: June 2005

AbstractAn apparently autosomal recessive syndrome of hereditary vitreoretinal degeneration (VRD) with retinal detachment, high myopia, and congenital encephalocele was described in 1971 by Knobloch and Layer [J Pediatr Ophthalmol 8:181–184]. Clinical confirmation of the presence of encephaloceles was lacking, and no neuropathologic studies were reported. We have evaluated a similarly affected family with 2 sibs with high myopia, VRD, and occipital scalp defects. Histologic examination of the scalp defects showed heterotopic neuronal tissue in both instances. The older girl has had a unilateral retinal detachment. Her other eye and both eyes of the younger sib have so far been treated successfully with prophylactic retinal cryotherapy. Both children have normal to above normal intelligence. The family reported by Knoblock and Lyer [1971] and the sibship herein described appear to represent a distinct autosomal recessive trait. Analysis of the associated defects suggests an underlying defect in early cephalic neuroectodermal morphogeneis. Data from these families imply that congenital occipital scalp defects rather than true encephaloceles may, as is true in some cases of Meckel syndrome, accompany Knobloch syndrome. The presence of a congenital midline scalp defect should alert the clinician to possible underlying central nervous system and/or ocular pathology and should lead to consideration of further diagnostic evaluations And prophylactic measures. © 1993 Wiley‐Liss, Inc.
New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers
Authors: Borrone C. , Di Rocco M. , Crovato F. , Camera G. , Gambini C. 
Published: June 2005

AbstractWe report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, “coarse” face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases.We think that this is a new genetic disorder inherited in autosomal recessive or X‐linked recessive manner. © 1993 Wiley‐Liss, Inc.
In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus “suddenly at risk”
Authors: Evans Mark I. , Farrell S. A. , Greb Anne , Ray Peter , Johnson Mark P. , Hoffman Eric P. 
Published: June 2005

AbstractDNA methods to diagnose Duchenne muscular dystrophy (DMD) are not always informative, and we have published previously the first instance of in utero muscle biopsy to assess dystrophin in a male fetus having the same “X” as an affected sib. We present here a female fetus with a de novo X,1 translocation with breakpoint at Xp21, detected on amniocentesis for advanced maternal age. The translocation breakpoint placed her at high risk for DMD. In utero muscle biopsy at 20 weeks of gestation produced a specimen positive for dystrophin immunofluorescence indcating a likely normal fetus. The pregnancy was continued, and at term the baby girl was found to have normal serum creatine kinase levels, and was therefore unaffected with DMD. Our experiences add de novo Xp21 translocation to the indications for in uteromuscle biopsy for diagnosis of DMD. © 1993 Wiley‐Liss, Inc.
Possible second case of tricho‐oculo‐dermo‐vertebral (Alves) syndrome
Authors: Stratton Robert F. , Jorgenson Ronald J. , Krause Irene C. 
Published: June 2005

AbstractWe report on a 10‐year‐old girl with trichodysplasia, onychodysplasia, hyperpigmented ichthyoform lesions on her shins, mild enamel dysplasia, and hyperkeratosis involving the soles. This combination of ectodermal defects has only been described by Alves et al. [Am J Med Genet 10:213–218, 1981]. © 1993 Wiley‐Liss, Inc.
Case of (Y;1) familial translocation
Authors: Teyssier Michelle , Rafat Azim , Pugeat Michel 
Published: June 2005

AbstractA balanced reciprocal translocation t(1;Y) (q11;q11) was found in an infertile man with severe oligoasthenospermia. The same translocation was found in his father. The role of X‐chromosome inactivation during meiosis in a male carrying a Y;autosome translocation is discussed. © 1993 Wiley‐Liss, Inc.
Alopecia universalis as a single abnormality in an inbred Pakistani kindred
Authors: Ahmad Mahmud , Abbas Hasan , Haque Sayedul 
Published: June 2005

AbstractA Pakistani kindred comprising 5 generations contained 9 males and 4 females with alopecia universalis as a single abnormality without any associated defects. The skin biopsy from the scalp showed hair follicles without hair. Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance, and consanguineous loops could account for all affected persons being homozygous for the abnormal allele. © 1993 Wiley‐Liss, Inc.
Study of isolated apparent amniogenic limb deficiency in Hungary, 1975–1984
Authors: Czeizel Andrew E. , Vitéz Márta , Kodaj Imre , Lenz Widukind 
Published: June 2005

AbstractA population‐based and validated data set of 206 cases with apparent amniogenic limb deficiency was ascertained in Hungary between 1975 and 1984. Such limb defects frequently (36%) associated with nonlimb abnormalities. In 134 cases with isolated defects typically more limbs are affected, upper and lower limbs, right and left sides, and both sexes are equally affected. Case‐control analysis of such isolated cases indicates a lower socio‐economic status of parents, a higher parity, more frequent unwanted pregnancies, preterm birth, and a higher rate of threatened abortion. Familial occurrence was not found in 415 first‐degree relatives. © 1993 Wiley‐Liss, Inc.
Nonspecific immunity in down syndrome: A study of chemotaxis, phagocytosis, oxidative metabolism, and cell surface marker expression of polymorphonuclear cells
Authors: Novo Ernesto , García Miryam I. , Lavergne Julio 
Published: June 2005

AbstractWe have investigated several aspects of nonspecific immunity in Down syndrome (DS), utilizing peripheral polymorphonuclear leukocytes (PMNL), obtained from 12 children aged 8–16, diagnosed as trisomy 21, and their healthy matched controls. We used the under agarose method for chemotaxis assays, and flow cytometry for the determination of phagocytosis of monodispersed fluorescent beads, metabolic burst activity, and neutrophil surface marker expression on these cells.Our results indicate that a chemotactic defect exists in PMNL of DS children. However, no statistically significant differences were found between PMNL from DS children and those from controls in phagocytosis, oxidative burst, and expression of the markers CD11a, CD11b, CD16, and CD 18.Furthermore, no overexpression of CD11a and CD18 was present as a consequence of gene overdosage in PMNL from DS children. On the other hand, 3 different neutrophil sub‐populations could be observed according to the CD16 staining pattern in DS children and controls; this might be a consequence of genetic variation or may represent different states of activation of these cells. Other factors such as T‐cell involvement, and the role of cytokines, cyclic nucleotides, and zinc serum levels in DS patients should be further investigated in order to define the causes of the immunological derangement present in this condition. © 1993 Wiley‐Liss, Inc.
Pattern of cardiac malformation in oculoauriculovertebral spectrum
Authors: Kumar Anil , Friedman J. M. , Taylor Glenn P. , Patterson Michael W. H. 
Published: June 2005

AbstractThe reported prevalence of congenital heart defects (CHD) in the oculoauriculovertebral “spectrum” (OAVS) is 5–58%. This variability is mainly due to differences in the diagnostic criteria used, and to ascertainment bias introduced by selection of patients from different specialty databases. Two‐thirds of the cardiac anomalies reported are either tetralogy of Fallot (TOF) or ventricular septal defect (VSD). We found a CHD frequency of 19% in a series of 32 patients identified either through a genetic or autopsy database. The cardiac lesions were much more varied and complex than previously reported and included asplenia syndrome, ventricular inversion associated with double outlet right ventricle, pulmonary atresia with VSD, double outlet right ventricle, and infradiaphragmatic total anomalous pulmonary venous connection. Pulmonary and renal abnormalities were more common in OAVS patients with CHD than in those where the heart was normal. © 1993 Wiley‐Liss, Inc.
Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies
Authors: Zenger‐Hain Julie L. , Roberson Jacquelyn , Van Dyke Daniel L. , Weiss Lester 
Published: June 2005

AbstractWe describe a 4‐year‐old boy with an interstitial deletion of the long arm of chromosome 10:del(10) (q11.2q22.1). Frontal bossing, hypertelorism, bright blue iris color, up‐slanting palpebral fissures, a flat nasal bridge, a broad nose, apparently low‐set ears, micrognathia, deep philtrum, and hypotonia were noted neonatally. A murmur was noted at age 5½ months and surgical repair of subaortic stenosis was required at 4 years. At 4 years micrognathia was no longer evident, but the palate was high‐arched. The pattern of abnormalities included postnatal‐onset slow growth, short stature, mental retardation, and cardiac anomalies. © 1993 Wiley‐Liss, Inc.
Discrepancy in mosaic findings between chorionic villi and amniocytes: A diagnostic dilemma involving 45,X, 46,XY, and 47,XYY cell lines
Authors: Rubin Cathi H. , Williams John , Wang Boris B. T. 
Published: June 2005

AbstractDiscrepancies between cytogenetic findings in chorionic villi (CV) and fetal tissue have been reported. Several embryogenic models have been proposed to explain such discrepancies. We describe a case in which analysis of the direct preparation showed 24% 45,X and 76% 46,XY, with 43% 45,X and 57% 46,XY cells in cultured villi. Amniocentesis results disclosed 97% 46,XY and 3% 47,XYY. No 45,X cells were found in cultured amniocytes. These findings suggest that nondisjunction occurred early in postzygotic cleavage resulting in 3 cell lines. It is postulated that through selection, the less viable 45,X cells died out among those destined to become fetus proper but persisted among the cytotrophoblast and extraembryonic mesoderm cells. While there is probably selection against all aneuploid cell lines, 47,XYY cells are more likely to survive in the fetus. An explanation for the lack of 47,XYY cells in the CV might be simply that the tissue sampled was not representative of the cytogenetic make up of the entire placenta. © 1993 Wiley‐Liss, Inc.
Is Tourette syndrome a cause of sudden infant death syndrome and childhood obstructive sleep apnea?
Authors: Sverd Jeffrey , Montero Gerardo 
Published: June 2005

AbstractThe cause of sudden infant death syndrome (SIDS) is unknown. Sleep‐related impairment of respiratory control and arousal are postulated; hyperdopaminergic and hyposerotonergic dysfunction may contribute to events leading to infant apnea and SIDS. Psychosocial adversity and impulsive and compulsive behaviours characterize some families of SIDS victims. Tourette syndrome (TS) is a common hereditary neurobehavioral disorder characterized by the frequent presence of impulsive and compulsive behaviors. Sleep disorders are common and include sleep apnea and abnormal arousal. Hyperdopaminergic and hyposerotonergic abnormalities are postulated to contribute to the pathophyusiology of the disorder. The following is a report of the presence of incidents of infant apnea and SIDS in families in which TS was present. In an additional TS family, a child had obstructive sleep apnea syndrome (OSAS). Results of a preliminary survey suggest that TS gene carriers are at increased risk of life‐threatening apneas of infancy and that the prevalence of SIDS in such families may be 2 to 5 times the prevalence in the general population. The presence in some pedigrees of sleep apnea in children and adults suggest that in some instances disorders of sleep‐related ventilatory control and arousal occurring throughout the life‐span share common pathophysiological mechanisms. © 1993 Wiley‐Liss, Inc.
Hematologic abnormalities in children with down syndrome
Authors: Roizen Nancy J. , Amarose Anthony P. 
Published: June 2005

AbstractWe compared the hematologis parameters of 18 otherwise healthy children with Down syndrome (DS) in the age range of 2–6 years to those of 18 healthy non‐DS controls matched for age and gender. The children with DS had MCVs and hematocrits increased significantly compared to controls and decreased WBCs compared to controls; 66% of the children with DS compared to 11% of non‐DS controls had MCVs greater than the 97th percentile for age (P <0.0001); the mean MCVs were 86.9 and 80.6, respectively. Although hematocrits were within normal limits for age for all DS and non‐DS subjects, the DS patients had significantly higher hematocrits (39.1% vs. 36.9%, P <0.014). We also found that 33% of the children had WBCs <5% for age compared to 6% of controls. To determine whether folate deficiency contributed to these observations, we measured serum and RBC folate concentrations: these were not significantly different between the 2 groups. We conclude that macrocytosis and leukopenia are common in children with DS. © 1993 Wiley‐Liss, Inc.
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11
Authors: Koiffmann Célia P. , de Souza Deise H. , Diament Aron , Ventura Heloisa B. , Alves Rosana S. , Kihara Sonia , Wajntal Anita 
Published: June 2005

AbstractWe report on a girl with apparent hypomelanosis of Ito(ITO); cytogenetic studies disclosed the karyotype 46,X,t(X;10)(p11;q11)mat. We present further evidence that at least one of the genetic forms of ITO is located at Xp11; reviewing the clinical characteristics of patients with incontinentia pigmenti type 1 (IP1) and ITO with X‐autosome translocations, we suggest that IP1 and ITO represent allelic forms or a contiguous gene syndrome. Thus, different genetic alterations in this region (Xp11) give rise to ITO or IP1 or borderline phenotypes. We also suggest that all patients with ITO, due to Xp11 mutation, have functional or genetic mosaicisms. © 1993 Wiley‐Liss, Inc.
Mild mandibulofacial dysostosis in a child with a deletion of 3p
Authors: Arn Pamela Hawks , Mankinen Carl , Jabs Ethylin W. 
Published: June 2005

AbstractWe report on a patient with mild mandibulofacial dysostosis and a small interstitial deletion of 3p,46,XY,del(3)(p23p24.12). Linkage of Treacher Collins syndrome, the most common of the mandibulofacial dysostosis, to the 5q31.3→q33.3 region of chromosome 5 has been established. This is the fourth report of a patient with mandibulofacial dysostosis with a chromosome abnormality outside the 5q31.3 area. Mandibulofacial dysostosis is a heterogeneous entity, and evaluation and counseling of affected individuals should be undertaken with caution. © 1993 Wiley‐Liss, Inc.
Autosomal dominant tetramelic postaxial oligodactyly
Authors: Wulfsberg Eric A. , Mirkinson Laura J. , Meister Steven J. 
Published: June 2005

AbstractPostaxial limb deficiencies are most frequently unilateral and sporadic with deficiencies of the ulnar ray about one‐third as common as those affecting the radial ray. Postaxial deficiency occurs in a number of genetic and sporadic syndromes, but isolated inherited tetramelic, postaxial oligodactyly has to our knowledge not been described. We report an affected mother and her 3 affected children from a 4‐generation family with apparent autosomal dominant, non‐syndromic, tetramelic, postaxial oligodactyly. The affected individuals manifest a very uniform pattern of postaxial deficiency ranging from complete absence of the 5th metacarpals, metatarsals, and phalanges to complete absence of the 5th metacarpals and metatarsals, but with some residual distal 5th phalanges.Limb buds may be considered a single developmental field with development proceeding rostral to caudal. Digit formation is apparently controlled by the zone of polarizing activity which releases a diffusible morphogen specifying positional information along the anterior/posterior axis. Recent investigations using chick and mouse embryo models suggest that 5′ members of the Hox‐4 gene cluster are responsible for interpreting this positional information to effect digit formation. The present family may represent a defect in Hox‐4 gene patterning of hand and foot formation, an abnormality in morphogen gradient formation or alternately an inability of the most ulnar rays to respond to morphogen (receptor defect). © 1993 Wiley‐Liss, Inc.
Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer
Authors: Brenner Rolf E. , Nerlich Andreas , Kirchner Frank , Mörike Martin , Terinde Rainer , Teller Walter M. 
Published: June 2005

AbstractWe report on a case of lethal short‐limbed skeletal dysplasia with extremely short ribs, median cleft upper lip and palate, malrotation of intestine, lung hypoplasia with bilateral segmentation defect, atrial septum defect, union of distal urethra and vagina, and complex brain malformations. Based on radiological criteria and the pattern of associated abnormalities a short rib syndrome without polydactyly (Type Beemer) was diaguosed. Morphologically, the growth plate showed a reduced proliferation zone and an enlarged zone of hypertrophic cartilage. In addition, islands of persistent hypertrophic cartilage were present even in the metaphysis. In monolayer cell cultures supplemented with 10% fetal calf serum proliferation was normal in articular chondrocytes, reduced in costal chondrocytes, and elevated in osteoblasts from the patient. Clonal growth of costal and articular chondrocyted in methylcellulose could be stimulated normally by insulin‐like growth factor‐I (IGF‐I), IGF‐II, and human growth hormone (hGH). However, the response to transforming growth factor β1 (TGF‐β1) was markedly elevated in articular chondrocytes of the patient compard to those of 3 fetal controls. Quantitative collagen synthesis in both osteoblasts and chondrocytes from the patient did not differ significantly from that of controls. Osteoblasts synthesized predominantly collagen I and minor amounts of collagen III, chondrocytes synthesized primarily collagen II. All collagen chains including CNBr‐peptides of collagen II showed normal migration in PAA gel electrophoresis.
Oculocerebral hypopigmentation syndrome associated with Bartter syndrome
Authors: White C. P. , Waldron M. , Jan J. E. , Carter J. E. 
Published: June 2005

AbstractWe describe a 20‐year‐old man with tyrosinase‐negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, ataxia, and Bartter syndrome. When combined, these neurocutaneous and renal findings form a previously unreported combination.The neurological and cutaneous manifestations of this case are distinctly different from those of the syndrome first reported by Cross et al. [1967]. The literature is reviewed and an attempt is made at classifying the oculocerebral hypopigmentation syndromes. © 1993 Wiley‐Liss, Inc.
Clinical and molecular analyses of deletion 3p25‐pter syndrome
Authors: Mowrey Philip N. , Chorney Michael J. , Venditti Charles P. , Latif Farida , Modi William S. , Lerman Michael I. , Zbar Berton , Robins David B. , Rogan Peter K. , Ladda Roger L. 
Published: June 2005

AbstractHemizygous deletion of 3p25‐pter is associated with a phenotype of profound growth failure, microcephaly, characteristic facial changes, and mental retardation. Since the severity may be quite variable, we have studied 3 cases of del 3p25‐pter to define the clinical manifestations and the critical chromosome region for phenotypic expression. The patient we now report died at age 6 months and provided an opportunity for a detailed necropsy analysis for only the second time in a del(3p) patient. He had marked hypoplasia of all organs, hypomyelination of white matter, and multiple renal cortical microcysts. Ordered genomic markers from the distal regions of chromosome 3p aided in determining the parent of origin of each deletion and in defining the boundaries of the deleted chromosomal segments. The deleted markers distal to the RAF1 oncogene in 2 of the 3 patients were consistently hemizygous. One patient had an interstitial deletion based on evidence of diploid inheritance of one of the most distal loci (D3S17). Available genetic linkage maps suggest that the deletion spans at least 19 centimorgans (cM). © 1993 Wiley‐Liss, Inc.