bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K
Authors: Howe Andrew M. , Lipson Anthony H. , Sheffield Leslie J. , Haan Eric A. , Halliday Jane L. , Jenson Fred , David David J. , Webster William S. 
Published: June 2005

AbstractTen patients with maxillonasal hypoplasia (Binder “syndrome”), who were prenatally exposed to phenytoin (usually in combination with other anticonvulsants), were identified retrospectively. In addition to their facial anomalies, 6 of the patients were radiographed neonatally and showed punctate calcification, characteristic of chondrodysplasia punctata. Evidence is presented that the facial abnormalities seen in these children are due to anticonvulsant‐induced vitamin K deficiency, causing abnormal development of the cartilaginous nasal septum. We propose that early vitamin K supplementation of at‐risk pregnacies may prevent the development of maxillonasal hypoplasia, which in some patients is severely disfiguring and causes great emotional distress. Correction of this facial defect requires surgical and dental treatment over a long period of time. © 1995 Wiley‐Liss, Inc.
Galloway‐Mowat syndrome in Taiwan
Authors: Hou Jai‐Woei , Wang Tso‐Ren 
Published: June 2005

AbstractWe report on two Chinese female infants with multiple congenital anomalies: microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly. In the first patient, focal glomerulosclerosis was diagnosed histologically by percutaneous renal biopsy due to proteinuria with hematuria. Congenital hypothyrodism presenting with markedly low T3 and T4 was also noted. She died at age 5 months. The second patient had a very similar condition but less severe brain and kidney malformations. A variant of Galloway‐Mowat syndrome is suspected. © 1995 Wiley‐Liss, Inc.
Recurrent lambdoid synostosis within two families
Authors: Fryburg Julie S. , Hwang Vivian , Lin Kant Y. 
Published: June 2005

AbstractWe report on 2 families with multiple members who have proven or suspected lambdoid craniosynostosis. In one family the lambdoid suture was unilaterally involved in one sib, and bilaterally in the other. In the second family the propositus had unilateral lambdoid synostosis and his twin sisters each had bilateral lambdoid synostosis. Both families had another distant relative, a maternal grandmother in the first and paternal uncle in the second, who were also reported to have posterior plagiocephaly. We report these families as evidence for genetic transmission of a craniosynostotic trait which has only been rarely reported previously. © 1995 Wiley‐Liss, Inc.
Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome
Authors: Hough Christine A. , White Bradley N. , Holden Jeanette J. A. 
Published: June 2005

AbstractThe supernumerary bisatellited chromosome causing the “cat eye” syndrome (CES) is of chromosome 22 origin and consists of an inverted duplication of the 22pter→22q11.2 region. To determine the extent of involvement of band q11.2 on the bisatellited chromosome, copy number assessment of sequences homologous to cloned λ immunoglobulin (λ Ig) gene region probes was carried out on DNA from individuals with CES using densitometric analysis of Southern blots. None of the 10 λ Ig sequences studied was found in increased copy number in DNA from any of the 10 CES individuals tested, indicating that these sequences are not present on the supernumerary chromosome. The breakpoints involved in the generation of the bisatellited supernumerary chromosome associated with CES are therefore proximal to the λ Ig gene region. © 1995 Wiley‐Liss, Inc.
Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin
Authors: Hoo Joe J. , Chao Margaret , Szego Katarina , Rauer Mary , Echiverri Susan C. , Harris Catherine 
Published: June 2005

AbstractWe present 4 recently diagnosed cases of inverted tandem duplication with involvement of the respective terminal band. Based on these 4 cases and review of the literature, the term “inverted terminal duplication” is proposed to designate specifically the type of inverted tandem duplication which involves the terminal band. A modification of the previous hypothesis of mechanism of origin is advanced. It is speculated further that a telomeric deletion of a meiotic chromosome followed by a U‐type reunion of the chromatids, considered to be the first steps of the proposed mechanism of origin, may not be a rare gonadal event. © 1995 Wiley‐Liss, Inc.
Transient leukemia with trisomy 21: Description of a case and review of the literature
Authors: Bhatt Sucheta , Schreck Rhona , Graham John M. , Korenberg Julie R. , Hurvitz Carole G. , Fischel‐Ghodsian Nathan 
Published: June 2005

AbstractTransient myeloproliferative disease (TMD) is often associated with a trisomy 21 cell line, but it is not always associated with clinical signs of Down syndrome. We report on a phenotypically normal newborn boy who presented with a high white blood cell count, undifferentiated blasts, and cutaneous leukemic infiltrates and compare this patient with the literature on TMD and trisomy 21. Chromosome analysis of bone marrow, and subsequently of skin fibroblasts, documented constitutional mosaicism for trisomy 21. A decrease in the frequency of blast cells paralleled a decrease in cells demonstrating trisomy 21 in hematopietic tissues, and a complete clinical recovery was seen without the use of chemotherapy. Recognition of this transient form of congenital leukemia is important to prevent the unnecessary use of toxic chemotherapeutic agents in such patients. © 1995 Wiley‐Liss, Inc.
Sex, neural tube defects, and multisite closure of the human neural tube
Authors: Seller Mary J. 
Published: June 2005

AbstractWhile neural tube defects (NTD) overall have a female sex bias, this does not apply to all sites along the neuraxis. The findings regarding sex and NTD in a series of midtrimester fetuses are reviewed, and then analysed in terms of the recent hypothesis that during embryogenesis of the human neural tube there are multiple closure sites, rather than a single zipping up process. Females more often than males tend to have craniorachischisis, spina bifida involving the thorax, the holoacrania form of anencephaly, anencephaly and cervical spina bifida and encephalocoeles, while males more often than females have spina bifida affecting the lower spine. Meroacrania occurs equally in both sexes. Other sources indicate that there is a male bias in frontoethmoidal encephalocoeles. Since sex seems to be a factor that is differentially associated with lack of closure of specific areas of the neural tube, it would seem to support the notion that there are multiple closure sites in the human neural tube. However, no association was found between a particular sex and either the type of NTD which have an isolated abnormality or those NTD associated with developmental abnormalities of other body systems. © 1995 Wiley‐Liss, Inc.
“New” ectodermal dysplasia with mental retardation and syndactyly
Authors: Ilyina Helena G. , Amoashy Dmitry S. , Grygory Helena A. 
Published: June 2005

AbstractWe describe a girl with an unusual form of ectodermal dysplasia. She was mildly mentally retarded, had normal height, weight, and head circumference, a large scalp defect, a peculiar face with large palpebral fisures, a broad nasal bridge and constantly open mouth, abnormally‐modeled ears, syndactyly of fingers/toes, mild hypohidrosis, and severe onychogryposis. Her hair was short, abundant, and stiff, her eyebrows were sparse, and her skin was dry. Analysis of the literature showed that this type of association of ectodermal dysplasia and other defects has not been previously described. © 1995 Wiley‐Liss, Inc.
Hypoglycemia in Coffin‐Siris syndrome
Authors: Imaizumi Kiyoshi , Nakamura Mihoko , Masuno Mitsuo , Makita Yoshio , Kuroki Yoshikazu 
Published: June 2005

AbstractWe describe a further patient with the Coffin‐Siris syndrome who presented at 4 months with recurrent hypoglycemia attacks. Detailed examination was undertaken at 7 months but the cause of hypoglycemia was not detected. Hypoglycemia seems to be a previously undescribed finding in the Coffin‐Siris syndrome. ©1995 Wiley‐Liss, Inc.
Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: A new autosomal recessive syndrome
Authors: Kennerknecht Ingo , von Saurma Petra , Brenner Rolf , Just Walter , Barbi Gotthold , Sorgo Wolfgang , Heinze Eberhard , Wolf Alfred S. , Schneider Volker , Günther Klaus‐Peter , Teller Walter M. , Vogel Walther 
Published: June 2005

AbstractWe report on 12‐ and 14‐year‐old sisters with a 46,XY chromosome constitution, normal female external genitalia, and absence of gonadal tissue. Except for omphalocele, right renal agenesis and malrotation of the colon in the elder sister, the internal organs were normal. Both were mentally retarded, of short stature, and had extremely retarded bone age. In addition, they had an almost identical pattern of minor anomalies: peculiar face, hypodontia, short neck, inverted nipples, thoracolumbar scoliosis, “dysplastic” hips, partial clino‐/syndactyly of toes.The occurrence of a basically similar set of malformations in two sisters and the first cousin consanguinity of the parents suggests autosomal recessive inheritance. The conserved region of the SRY gene ([high mobility group] HMG box) was sequenced in the elder sib and was normal.No consistent malformations are observed at present in agonadal patients. This supports the idea that several autosomal genes have the potential of influencing the sequence of events of sex determination. © 1995 Wiley‐Liss, Inc.
Distal deletion of chromosome 13 in a child with the “Opitz” GBBB syndrome
Authors: Urioste Miguel , Arroyo Ignacio , Villa Amelia , Lorda‐Sánchez Isabel , Barrio Raquel , López‐Cuesta María‐Jesús , Rueda Javier 
Published: June 2005

AbstractWe describe a patient who had craniofacial and genitourinary abnormalities, swallowing difficulties, esophageal dysfunction, hypotonia and moderate developmental delay, and who also had a terminal deletion of chromosome 13 (q32.3qter). This MCA pattern strongly suggests the Opitz GBBB syndrome. The deletion of chromosome 13 was interpreted as terminal with a breakpoint at 13q32.3. Coagulation factors VII and X located in 13q34, were markedly reduced in the propositus.Although there is some clinical overlap between patients with terminal deletion of 13q and those with the Opitz GBBB syndrome, our patient manifests a whole pattern of abnormalities characteristic of the latter disorder. The concurrence of the Opitz GBBB syndrome and the chromosome abnormality in our patient could be due to chance or, be becuase a gene for the Opitz GBBB syndrome is located at the tip of 13q. © 1995 Wiley‐Liss, Inc.
X‐linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies
Authors: Robledo Renato , Melis Paola , Schillinger Erika , Casciano Ida , Balazs Ivan , Rinaldi Antoniettina , Siniscalco Marcello , Filippi Giorgio 
Published: June 2005

AbstractWe report on a Sardinian pedigree with congential ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X‐linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X‐linked ichthyosis which may also result from a mutational event at an X‐chromosomal site genetically unlinked to the STS locus. © 1995 Wiley‐Liss, Inc.
Hemifacial hyperplasia with meningeal involvement: A variant of proteus syndrome?
Authors: Haramoto Ushio , Kobayashi Seiichiro , Ohmori Kitaro 
Published: June 2005

AbstractWe report on a sporadic case of hemifacial hamartomatous hyperplasia. The patient is male, and has sebaceous nevus‐like skin change, subcutaneous lipomatous mass, cranial bone hyperplasia, and bony change of meninges. His lesion involves the anterior half of the face and cranial base, and, medially, is delimited by the midline. No case has been found identical to this in the literature, particularly with respect to the unusual meningeal lesion. However, without this meningeal lesion the rest of the manifestations are not uncommon in Proteus syndrome. Also, this case may be an indication of somatic mosaicism, lethal in its nonmosaic state. Thus, this case may be thought of as a variant of Proteus syndrome. © 1995 Wiley‐Liss, Inc.
Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: Deletion detection and familial diagnosis
Authors: Patiño Ana , Narbona Juan , García‐Delgado Marina 
Published: June 2005

AbstractDeletion studies were performed in 26 Duchenne muscular dystrophy (DMD) patients through amplification of nine different exons by multiplex polymerase chain reaction (PCR). DNA from paraffin‐embedded muscle biopsies was analyzed in 12 of the 26 patients studied. Optimization of this technique is of great utility because it enables analysis of material stored in pathology archives. PCR deletion detection, useful in DMD‐affected boys, is problematic in determining the carrier state in female relatives. For this reason, to perform familial linkage diagnosis, we made use of a dinucleotide repeat polymorphism (STRP, or short tandem repeat polymorphism) located in intron 49 of the gene. We designed a new pair of primers that enabled the detection of 22 different alleles in relatives in the 14 DMD families studied. The use of this marker allowed familial diagnosis in 11 of the 14 DMD families and detection of de novo deletions in 3 of the probands. © 1995 Wiley‐Liss, Inc.
Familial partial duplication (1)(p21p31)
Authors: Hoechstetter Leah , Soukup Shirley , Schorry Elizabeth K. 
Published: June 2005

AbstractA partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30‐year‐old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed. © 1995 Wiley‐Liss, Inc.
Cardiac malformation in two infants with hypochondrogenesis
Authors: Potocki Lorraine , Abuelo Dianne N. , Oyer Calvin E. 
Published: June 2005

AbstractAutopsy records from the Women and Infants' Hospital from January 1974 through January 1994 were reviewed to identify cardiac malformations in the presence of skeletal dysplasia. Of 24 cases of lethal fetal or neonatal osteochondrodysplasias, 4 were given diagnoses in which disorders of type II collagen are regarded as causative. These 4 were categorized in the spondyloepiphyseal dysplasia (SED) spectrum of disorders; specifically two patients with hypochondrogenesis and two with spondyloepiphyseal dysplasia congenita were identified. Defects in cardiac septation were noted in the 2 patients with hypochondrogenesis. No cardiovascular abnormalities were present in the remaining cases, which included thanatophoric dysplasia, osteogenesis imperfecta, and asphyxiating thoracic dystrophy.Although cardiovascular malformations have been described in other types of osteochondrodysplasias, e.g., short rib polydactyly syndrome type II and chondroectodermal (Ellis van Creveld) dysplasia, congenital heart disease has not been described in hypochondrogenesis. Type II collagen, which has been found to be abnormal in some patients with hypochondrogenesis, is considered to have a limited tissue distribution, and has not been detected as yet in human myocardium. The findings presented here suggest that type II collagen may function in human cardiogenesis. © 1995 Wiley‐Liss, Inc.
Infantile lethal variant of Simpson‐Golabi‐Behmel syndrome associated with hydrops fetalis
Authors: Terespolsky D. , Farrell S. A. , Siegel‐Bartelt J. , Weksberg R. 
Published: June 2005

AbstractSimpson‐Golabi Behmel syndrome (SGBS) is an X‐linked disorder characterized by pre‐ and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al. [1975: BD:OA XI(2):18–24], a wide clinical range of cases has been reported. There is great variability in severity, ranging from a mild form associated with long‐term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. In 8 reported families, affected individuals died in infancy.Here we present 4 maternally related, male cousins with a severe variant of SGBS. One of these males was aborted therapeutically at 19 weeks of gestation following the detection of multicystic kidneys on ultrasound. The 3 liveborn males were hydropic at birth with a combination of craniofacial anomalies including macrocephaly; apparently low‐set, posteriorly angulated ears; hypertelorism; short, broad nose with anteverted nares; large mouth with thin upper vermilion border; prominent philtrum; high‐arched or cleft palate; short neck; redundant skin; hypoplastic nails; skeletal defects involving upper and lower limbs; gastrointestinal and genitourinary anomalies. All 3 patients were hypotonic and neurologically impaired from birth. With the exception of a trilobate left lung in one patient, the cardiorespiratory system was structurally normal. All patients died within the first 8 weeks of life of multiple complications including pneumonia and sepsis.Two SGBS kindreds, with moderate expression of the condition, have been mapped to Xq27. It is not known whether severe, familial cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(s). © 1995 Wiley‐Liss, Inc.
Fryns syndrome survivors and neurologic outcome
Authors: Van Hove Johan L. K. , Spiridigliozzi Gail A. , Heinz Ralph , McConkie‐Rosell Allyn , Iafolla A. Kimberly , Kahler Stephen G. 
Published: June 2005

AbstractFryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three‐year‐old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive the neonatal period represent 14% of reported cases. Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, absence of complex cardiac malformation, and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy‐Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. Our patient exhibited profound mental retardation. He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long‐term outcome of survivors is important for counseling of families with Fryns syndrome. Careful brain examination is advised; however, a normal radiological brain examination does not preclude developmental delay. The spectrum of individual outcome and of associated anomalies indicates that individual evaluation, imaging for structural brain malformation, is strongly advised. © 1995 Wiley‐Liss, Inc.
Mirror image duplication of the hands and feet: Report of a sporadic case with multiple congenital anomalies
Authors: Hersh J. H. , Cruz T. V. Dela , Pietrantoni M. , von Drasek‐Ascher G. , Turnquest M. A. , Yacoub O. A. , Joyce M. R. 
Published: June 2005

AbstractMirror image duplication of the hands and feet is a rare entity. Based on 3 previous reports, findings include nasal abnormalities, dimelia of ulna and fibula, tibial hypoplasia and mirror image duplication of hands and feet. We report on a sporadic case in which mirror image duplication was associated with multiple congenital anomalies. Although these cases may represent variable expression of the same dominantly transmitted complex polysyndactyly syndrome, it is possible that mirror image duplication of the hands and feet is a manifestation common to a number of distinct clinical entities. During limb bud development, duplication and aberrant positioning of the zone of polarizing activity in relation to the apical ectodermal ridge may account for the anatomic abnormalities of the hands and feet in these patients. © 1995 Wiley‐Liss, Inc.
Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease
Authors: Fujimoto Atsuko , Tayebi Nahid , Sidransky Ellen 
Published: June 2005

AbstractWe describe 2 sibs who presented with ichthyotic skin at birth and subsequently developed neurologic manifestations of type 2 Gaucher disease. Type 2 Gaucher patients with and without ichthyosis manifest ultrastructural and biochemical abnormalities in the epidermis. The 2 patients described here clearly demonstrate that epidermal involvement in type 2 Gaucher disease may precede neurologic symptoms and substantiate the prognostic significance of early skin abnormalities in Gaucher patients. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis, even if the scaling resolves spontaneously. © 1995 Wiley‐Liss, Inc. This article is a U.S. Government work and, as such, is in the public domain in the United States of America.
Clinical findings in obligate carriers of type I Usher syndrome
Authors: Wagenaar M. , ter Rahe B. , van Aarem A. , Huygen P. , Admiraal R. , Bleeker‐Wagemakers E. , Pinckers A. , Kimberling W. , Cremers C. 
Published: June 2005

AbstractSeventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. © 1995 Wiley‐Liss, Inc.