bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia
Authors: Van Calcar Sandra C. , Harding Cary O. , Davidson Susan R. , Barness Lewis A. , Wolff Jon A. 
Published: June 2005

AbstractWe report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies. Healthy infants were delivered without maternal metabolic decompensation. © 1992 Wiley‐Liss, Inc.
Cardio‐Facio‐Cutaneous syndrome: Three additional cases and review of the literature
Authors: Somer Mirja , Peippo Maarit , Aalto‐Korte Kristiina , Ritvanen Annukka , Niemi Kirsti Maria 
Published: June 2005

AbstractWe report on 3 patients with the cardio‐faciocutaneous (CFC) syndrome. Each of them was a sporadic case in the family. The severity of the psychomotor retardation varied from mild to severe. Skin manifestations were often minimal, but each patient had abnormally curly and brittle hair. A skin biopsy from one of the patients showed vellus hair cysts filled with keratin, and the hair follicles were surrounded by unusually thick fibrotic sheaths. © 1992 Wiley‐Liss, Inc.
Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: A new autosomal dominant bone disorder
Authors: Kantaputra Piranit N. , Gorlin Robert J. , Langer Leonard O. 
Published: June 2005

AbstractA new type of mesomelic dysplasia was in 3 generations of a large Thai family. It is characterized by bilateral symmetrical marked shortening of the ulnae and shortening and bowing of the radii. The proximal fibula is usually short and synostoses are present between the tibia and fibula and the small malformed calcaneus and talus. The prominent calcanei on the ventral surfaces of the distal fibulae are a characteristic feature of the new type. Carpal and tarsal synostoses are present in some affected people. All affected individuals walk on the tips of their toes with the dorsal foot deviated laterally. The deformities of the radius and ulna somewhat resemble those of mesomelic dysplasia, Langer type, but otherwise the condition is distinctly different.This new mesomelic dysplasia is an autosomal dominant trait with complete penetrance and variable expressivity over 3 generations. © 1992 Wiley‐Liss, Inc.
New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects
Authors: Middleton L. T. , Anastasiades V. , Panayidou K. , Georghiou D. , Kalli E. , Gabriel G. , Myrianthopoulos N. C. 
Published: June 2005

AbstractWe report on a new syndrome characterized by specific and striking facial abnormalities, arthrogrypotic skeletal deformities, and neuromuscular and sensory defects in a large Greek Cypriot family. The hereditary transmission appears to be autosomal dominant with quite variable expressivity. © 1992 Wiley‐Liss, Inc.
Huntington disease in black Zimbabwean families living near the Mozambique border
Authors: Scrimgeour Euan M. , Pfumojena John W. 
Published: June 2005

AbstractHuntington disease (HD) was identified in a black (Bantu) family living in the Manicaland region of Zimbabwe near the border with Mozambique. The pedigree included 11 affected individuals in 4 generations. There were 2 other probable HD patients from 2 unrelated black families in the same region. The prevalence rate of HD in this region of Zimbabwe was estimated to be 0.5–1 per 100,000. HD could have been introduced by Portuguese colonists from Mozambique, or by other European visitors, possibly before 1875. DNA studies may ultimately indicate if HD was introduced to this community, or if it arose by mutation. HD was previously reported in Zimbabwean blacks in 1978, when 4 cases of juvenile HD were described in a Bantu family with no apparent history of the disease. © 1992 Wiley‐Liss, Inc.
Chondrodysplasia punctata: Another possible X‐linked recessive case
Authors: Bennett C. P. , Berry A. Caroline , Maxwell D. J. , Seller Mary J. 
Published: June 2005

AbstractA 22‐week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of chondrodysplasia punctata (CP), and metacarpal shortness and tiny pyramidal phalanges. The several causally different forms of CP are tabulated. Differential diagnosis suggests that the present case, which does not have limb shortness, could be a case of X‐linked recessive brachytelephalangic chondrodysplasia punctata. © 1992 Wiley‐Liss, Inc.
VATER/VACTERL association: Clinical variability and expanding phenotype including laryngeal stenosis
Authors: Corsello Giovanni , Maresi Emiliano , Corrao Anna Maria , Dimita Ubaldo , Cascio Manlio Lo , Cammarata Marina , Giuffrè Liborio 
Published: June 2005

AbstractVertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley‐Liss, Inc.
Infantile autism—fragile X: Molecular findings support genetic heterogeneity
Authors: Malmgren Helena , Gustavson Karl‐Henrik , Wahlström Jan , Arpi‐Henriksson Ingrid , Bensch Jurgen , Pettersson Ulf , Dahl Niklas 
Published: June 2005

AbstractTwenty‐two members of 18 families with autism have been examined for the presence of mutations and abnormal methylation in the FMR‐1 region at Xq27.3. All patients fulfilled diagnostic criteria of infantile autism. A characteristic pattern of insertion and methylation were detected after Southern blot analysis in 7 autistic individuals expressing the fragile site at Xq27.3. Normal DNA patterns were observed in 15 autistic boys cytogenetically negative for the fragile site. The results indicate a lack of involvement of the FMR‐1 region in infantile autists negative for fragile X expression. © 1992 Wiley‐Liss, Inc.
Limb anomalies following chorionic villus sampling: A registry based case‐control study
Authors: Mastroiacovo Pierpaolo , Botto Lorenzo Davide , Cavalcanti Denise Pontes , Lalatta Faustina , Selicorni Angelo , Tozzi Alberto Eugenio , Baronciani Dante , Cigolotti Anna Chiara , Giordano Sergio , Petroni Fabio , Puppin Francesco 
Published: June 2005

AbstractUsing data from the Italian Multicentric Birth Defect Registry a case–control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro–mandibular–limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age.These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure. © 1992 Wiley‐Liss, Inc.
Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred
Authors: Hirsch Betsy , Baldinger Shari 
Published: June 2005

AbstractTheoretically, every pericentric inversion can give rise, during meiosis, to 2 alternate recombinant chromosomes. One of these will have a duplication of short arm material and deletion of long arm material (dup p), and the other, a duplication of a long arm material and deletion of short arm material (dup q). However, most published cases have been limited to a single recombinant type occurring within a given kindred. Here we document a large pericentric inversion of chromosome 4 which gave rise, within 2 generations of a kindred, to both dup p and dup q recombinants. The family was ascertained by the birth of a baby girl with multiple congenital anomalies suggestive of Wolf‐Hirschhorn syndrome, and was found to have a dup 4q recombinant. Subsequent studies of her father and of her 27‐year‐old mentally retarded aunt showed a balanced inv(4) (p15.32q35) and a dup 4p recombinant, respectively. Given that: (a) the balanced inversion involves approximately 87% of the length of chromosome 4; (b) the predicted meiotic pairing would be homosynapsis with loop formation; (c) the size of the segments distal to the breakpoints of the inversion are of similar and relatively small size; and (d) both recombinants are compatible with life, then the risk for recurrence of a recombinant in this family is high. Genetic counseling addressed these issues, and to date, both chronic villus sampling (CVS) and amniocentesis have been provided for prenatal diagnosis. © 1993 Wiley‐Liss, Inc.
Phenotype of cranioectodermal dysplasia with different hair and bone abnormalities
Authors: Lammer Edward J. , Baden Howard , Margolis Randall J. 
Published: June 2005

AbstractWe report on a 3‐year‐old boy with hair abnormalities and a generalized bone dysplasia. He had very short, sparse hair and craniosynotosis. His stature, growth, and limb lengths were normal, as was his neurological development. While this phenotype has some resemblance to cranioectodermal dysplasia, the radiographic and hair abnormalities are different. Histological studies showed abnormalities in the internal root sheath of the hair follicle and the hair shaft. These findings define a new ectodermal dysplasia syndrome of unknown cause. © 1993 Wiley‐Liss, Inc.
Fetal and neonatal outcome of exposure to anticoagulants during pregnancy
Authors: Wong V. , Cheng C. H. , Chan K. C. 
Published: June 2005

AbstractWe studied fetal and neonatal outcome of women maintained on anticoagulants (warfarin and/or heparin) during pregnancy. Among 22 Chinese families, 13 mothers (59%) had a history of recurrent abortion or stillbirth while being maintained on warfarin treatment. Twenty‐nine liveborn children (17 boys, 12 girls), ages 0.6–11.3 years at follow‐up, were analysed for evidence of embryopathy. These were subdivided into 2 groups. Group 1 consisted of 18 children (12 boys, 6 girls) whose mothers were only given warfarin during pregnancy. Five were small for gestational age, and 12 had features of warfarin embryopathy such as nasal hypoplasia. One had subependymal intraventricular hemorrhage shown on neonatal ultrasonography. Group 2 consisted of 11 children (5 boys, 6 girls) whose mothers were maintained on warfarin and heparin during pregnancy. Three were premature deliveries, and 4 had nasal hypoplasia. One had cleft lip, cleft palate, cataract, microphthalmia, intraventricular hemorrhage, and hydrocephalus. We found that despite the high risk of fetal wastage, there was a relative lower risk of major complications, except for some minor cosmetic defects such as nasal hypoplasia. This might lead to readjustment of advice concerning contraception given to pregnant women who were maintained on anticoagulant therapy. © 1993 Wiley‐Liss, Inc.
Characterization of a de novo 48,XX, + r(X), + r(17) by in situ hybridizatio in a patient with neurofibromatosis (NF1)
Authors: Wiktor Anne , Van Dyke Daniel L. , Weiss Lester 
Published: June 2005

AbstractWe describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In sity hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47, XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48, XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each superunmerary ring chromosome, may have played a role in perturbing the normal developmenal process of this patient. © 1993 Wiley‐Liss, Inc.
Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype
Authors: Park Jonathan P. , McDermet Malanie K. , Doody Ann M. , Marin‐Padilla J. Miguel , Moeschler John B. , Wurster‐Hill Doris H. 
Published: June 2005

AbstractCases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects. © 1993 Wiley‐Liss, Inc.
Interstitial deletion of chromosome 2 region in a malformed infant
Authors: Melnyk A. R. , Muraskas J. 
Published: June 2005

AbstractWe describe an infant with a lumber meningomyelocele and other congenital anomalies and a de novo deletion of 2q36 with a nonmosaic karyotype 46,XX,del(2)(q36). © 1993 Wiley‐Liss, Inc.
Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome
Authors: Berry‐Kravis Elizabeth , Sklena Paul 
Published: June 2005

AbstractCyclic AMP production was studied in platelets from 31 patients with fragile X syndrome, 16 patients with mental retardation, 4 patients with autistic disorder, and 57 control individuals. 1‐isobutyl‐3‐methylxanthine (IBMX) was used to inhibit phosphodiesterase; prostaglandin E1 (PGE1), to stimulate cAMP production via a receptor‐dependent mechanism, and forskolin (FSK), to directly activate the catalytic subunit. Cyclic AMP production in IBMX, PGE1 + IBMX, and FSK + IBMX was 50% (P<0.05), 65% (P=0.001), and 53% (P = 0.001), respectively, in fragile X platelets relative to controls. Cyclic AMP production was not statistically different from controls in patients with mental retardation or autistic disorder. There was no effect of age or sex on cAMP production. Dose response curves suggested that abnormal cAMP production was due to diminished maximal response rather than altered potency of stimulating agents. The data presented here demonstrate that diminished cAMP production exists in platelets from patients with fragile X syndrome. Thus, defective functioning of cAMP‐mediated regulatory signalling pathways in fragile X brain may contribute to the mental deficiency in these patients. © 1993 Wiley‐Liss, Inc.
Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1
Authors: Lupski James R. , Pentao Liu , Williams Lowell L. , Patel Pragna I. 
Published: June 2005

AbstractCharcot‐Marie‐Tooth disease type 1A (CMT1A) was recently demonstrated to be associated with a large DNA duplication in 17p11.2p12. The gene for neurofibromatosis type 1 (NF1) or von Recklinghausen disease maps to 17q11.2. We have identified 2 unrelated patients who were diagnosed with both CMT1 and NF1. Molecular analysis of these patients demonstrated the presence of the CMT1A duplication and inheritance of this DNA rearrangement from a parent affected with CMT. Analysis of genomic DNA isolated from the neurofibroma removed from one of these patients showed the same 500 kb SacII junction fragment associated with the CMT1A duplication that was found in genomic DNA isolated from the blood. These results lend further support to the hypothesis that the CMT1A duplication is a stable DNA rearrangement. In addition, the molecular analysis of these 2 patients suggests that 2 common autosomal dominant conditions (CMT1 and NF1) can occur in the same individual, not because of an underlying single molecular defect, but rather, secondary to a chance phenomenon. © 1993 Wiley‐Liss, Inc.
Interstitial deletion of distal chromosome 4p in a patient without classical Wolf‐Hirschhorn syndrome
Authors: Estabrooks Laurel L. , Rao Kathleen W. , Korf Bruce 
Published: June 2005

AbstractWe report on a patient with a de novo interstitial deletion of chromosome 4p; 46,XY,del(4) (p15.31p16.3). The cytogenetic diagnosis would predict a patient with the Wolf‐Hirschhorn syndrome (WHS) since deletions of 4p16 are associated with WHS [Wilson et al., 1981]. This patient lacks the facial characteristics of WHS, but has some anomalies of WHS that are also commonly seen in other syndromes, i.e., severe growth retardation, developmental delay, and hypospadias. His molecular distal breakpoint occurs in 4p16.3 as defined by fluorescence in situ hybridization and Southern blot analysis, and his deletion does not overlap with the currently proposed WHS critical region. This case gives further support to the distal position of the WHS critical region and demonstrates some of the WHS associated phenotypes that can be attributed to a deletion of the proximal third of 4p16.3. © 1993 Wiley‐Liss, Inc.
Osteogenesis imperfecta: The distinction from child abuse and the recognition of a variant form
Authors: Paterson Colin R. , Burns James , McAllion Susan J. 
Published: June 2005

AbstractUnexplained fractures are characteristic of both osteogenesis imperfecta (OI) and nonaccidental injury (NAI) but in most cases the diagnosis is straightforward. However, in a few OI patients an initial diagnosis of NAI is made. Factors contributing to such difficulties include failure to recognise that OI can occur without a family history, without blue sclerae, without osteopenia, an excess of Wormian bones, or with metaphyseal fractures.In addition we report on 39 patients with an unusual history in that fractures only occurred in the first year of life. Rib fractures, metaphyseal abnormalities and periosteal reactions were common. The initial diagnosis was usually OI if the fractures occurred in hospital, but NAI if they appeared to have been sustained at home. Additional findings such as anaemia, vomiting, hepatomegaly, and apnoeic attacks were often found in these patients. The disorder has some similarities to the syndrome of infantile copper deficiency. Like the latter it is particularly common in preterm infants and in twins. Therefore, we are attempting to examine the incidence of significant hypocupraemia in unselected preterm infants.We suggest that the likely cause of this “temporary brittle bone disease” is a temporary deficiency of an enzyme, perhaps a metalloenzyme, involved in the post‐translational processing of collagen.
Comprehensive rehabilitation of the child with osteogenesis imperfecta
Authors: Binder Helga , Conway Ann , Hason Stephen , Gerber Lynn H. , Marini Joan , Berry Roger , Weintrob Joan 
Published: June 2005

AbstractChildren with osteogenesis imperfecta (OI) that results in considerable deformity are often viewed as poor candidates for aggressive physical therapy and rehabilitation. To determine if this view is realistic, we have entered almost 50 children with OI type III and OI type IV into a comprehensive graduated rehabilitation program, based at the National Institutes of Health, but designed to be implemented by continuing involvement of community resources. Children are begun in the program early with emphasis on gain of head and trunk control and progression to sitting and walking, if possible, with the aid of a variety of phsysical supports, including internal and external bracing. Although not conducted in a randomized fashion, the program's success in bringing children into graded exercise regimes and fostering their increased involvement in school and social situations suggest that aggressive physical therpy and rehabilitation have a major place in the overall care of the infants and children with OI.
Early surgical management of severe forms of osteogenesis imperfecta
Authors: Cole William G. 
Published: June 2005

AbstractThe early surgical management of severe osteogenesis imperfecta (OI) was studied in three children with autosomal recessive type III form of this disease. Each child had similar clinical and radiographic features at birth. The spine, pelvis, and thorax were osteoporotic but were well formed and free of major fractures. In contrast, the peripheral skeleton was severely affected with numerous new and old fractures. Conservative treatment of fractures was undertaken with a foam mould for the torso and limbs and additional support was provided for specific unstable painful fractures. However, fractures continued due to the extreme bone fragility and deformities. Surgical correction of deformities and internal splinting of the long bones with intermedullary rods was commenced between 18 months and 5 years of age. The shafts of the long bones were extremely fragile and lacked cortical bone. The osteotomies were under‐taken with a scalpel. The fracture rate diminished rapidly but the non‐extending rods needed shortening or replacing within 2 to 3 years.The combination of external and internal fixation and electric wheel chairs greatly reduced the frequency of fractures and facilitated the general care and development of these 3 children with a severe form of OI.
Long term survival of an infant with Sirenomelia
Authors: Clarke Lorne A. , Stringer David A. , Fraser Graham C. , Yong Siu Li 
Published: June 2005

AbstractWe report on a 3‐month‐old infant whose sirenomelia was diagnosed prenatally. The infant is neurologically normal and has “fusion” of the lower limbs with associated renal dysplasia, imperforate anus, pelvic and sacral “dysplasia,” and genital abnormalities. In addition she has a preauricular skin tag and rib fusion. The infant's anomalies are compatible with life and surgical separation of the lower limbs is planned. © 1993 Wiley‐Liss, Inc.
Familial Mediterranean fever in the colchicine era: The fate of one family
Authors: Zemer Deborah , Livneh Avi , Pras Mordechai , Sohar Ezra 
Published: June 2005

AbstractIn order to demonstrate the effect of prophylactic colchicine treatment on the natural history of familial Mediterranean fever (FMF), a family is presented with 6 out of 9 siblings affected by FMF. Each patient represents a different stage of the amyloidotic kidney disease of FMF and the effect of continuous colchicine treatment on its course. Considered together, the members of this family present an almost complete clinical, genetic, and behavioral picture of the disease. © 1993 Wiley‐Liss, Inc.
Michelin tire baby syndrome: Familial constriction bands during infancy and early childhood in four generations
Authors: Bass Harold N. , Caldwell Sibylle , Brooks Barry S. 
Published: June 2005

AbstractWe report on an infant with an unusual pattern of transitory familial constriction bands distributed symmetrically and circumferentially over the neck, forearms, and lower legs. Family history showed the occurrence of similar bands among individuals in 4 generations transmitted as an autosomal dominant trait. Neck and limb distribution in the other affected family members was also symmetrical and circumferential, with spontaneous resolution taking place during childhood. This case represents another example of the Michelin tire baby syndrome, also known as multiple benign circumferential skin creases of the limbs, and further demonstrates its autosomal dominant mode of inheritance. © 1993 Wiley‐Liss, Inc.