bluuebunny/crossref_metadata_2025_split huggingface dataset:
Manifestations of pseudoxanthoma elasticum during pregnancy: A case report and review of the literature
Authors: Elejalde B. Rafael , de Elejalde Maria Mercedes , Samter Thomas , Burgess John , Lombardi Joseph , Gilbert Enid F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 30‐year‐old white woman with pseudoxanthoma elasticum (PXE) was followed throughout her pregnancy with several fetal ultrasonographic examinations and other diagnostic studies; these showed normal development up to the 26th wk and then a marked deceleration of fetal growth. The ultrasonographic appearance of the placenta was abnormal at all times probably related to the microscopic changes. The baby, born at 36 wk, showed severe intrauterine growth retardation as a probable consequence of the abnormal placenta detected by ultrasound and corroborated at birth. The cotyledons were small and more numerous than normal. One third of the placenta was hypoplastic or atrophic, with focal calcification in septa, stroma, villi, and decidua, and increased deposition of fibrin around villi. The most striking change was the increased number of septa and the abnormal elastic tissue.
Genetic analysis of cleft lip with or without cleft palate in Danish kindreds
Authors: Marazita Mary L. , Spence M. Anne , Melnick Michael 
Published: June 2005

AbstractThe present study population consist of 2,532 families ascertained through nonsyndromic cleft lip with or without cleft palate (CL ± P) surgical probands born in Denmark between 1941 and 1971. Three samples were derived for analyses of the trait “Clefted (CL ± P) or not.” Sample 1 consists of the4 26 largest multigenerational families with four or more affected members. Both samples 2‐MG and 2‐N consist of nuclear families with at least two children and at least one proband among the children. Sample 2‐mG contains 846 nuclear families derived from the kindreds with three or more generations. Sample 2‐N contains a further 1,181 kindreds with only two generations, nuclear family information available.Four methods of analysis were used: (1) Pedigree analysis was performed on each of the multigenerational kindreds of Sample 1. Results were consistent with autosomal recessive inheritance in eight families and codominant inheritance in three families. These simple genetic hypotheses could not be distinguished in the remaining 15 families. (2) The Goodness‐of‐fit of the multifactorial threshold (MF/T) model was tested in Samples 2‐MG, and 2‐N. The MF/T model was rejected in both samples. (3) Classical segregation analysis was performed on Samples 2‐MG and 2‐N. Results were consistent with a possible recessive major gene for CL ± P in Sample 2‐MG, but not in Sample 2‐N, and with significant admixture of sporadic cases in both samples. (4) Complex segregation analysis under the mixed model was performed on Samples 2‐MG and 2‐N, In sample 2‐MG, results were consistent with either the general mixed model or with an hypothesis of no major gene. In Sample 2‐N, four hypotheses were equally likely: the mixed model with no polygenic component, the mixed model with the major gene component, the mixed model with no sib environmental correlation, and major gene alone.Three conclusions may be drawn: (1) The data provide no support for the MF/T model. (2) The data are consistent with the possibility of a major gene in a portion of the kindreds. (3) The data provide evidence for genetic heterogeneity for CL ± P.
Opsismodysplasia: A new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae
Authors: Maroteaux Pierre , Stanescu Victor , Stanescu Ritta , Le Marec Bernard , Moraine Claude , Lejarraga Horacio 
Published: June 2005

AbstractThe name opsismodysplasia is proposed for a new chondrodysplasia, which was studied in three patients. Clinically, the condition is recognized at birth on the basis of shortness, short hands, and facial abnormalities with a short nose and a depressed bridge of nose. The most characteristic radiographic signs are: very retarded bone maturation; marked shortness of the bones of the hands and of the feet with concave metaphyses; and thin, lamellar vertebral bodies. The growth cartilage studied in one case showed a wide hypertrophic area containing thick connective tissue septa, irregular provisional calcification, and vascular invasion. Type I collagen was detected in the hypertrophic area by immunohistochemical and microchemical tests. The transmission of opsismodysplasia is probably autosomal recessive.
GAPO syndrome: Report of three affected brothers
Authors: Gagliardi Antonio Ricardo T. , Gonzalez Claudette Hajaj , Pratesi Riccardo 
Published: June 2005

AbstractWe present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal‐recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.
Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity
Authors: Renie William A. , Pyeritz Reed E. , Combs James , Fine Stuart L. 
Published: June 2005

AbstractThe characteristic histopathologic lesion of pseudoxanthoma elasticum (PXE) is calcification of the central core of elastic fibers in affected organs; it is correlated with clinical severity. One hypothesis holds that lowering dietary calcium might reduce or prevent tissue injury and minimize clinical effects. This hypothesis would be supported by demonstrating that clinical expression is positively associated with previous calcium intake. We studied 32 unrelated PXE patients (20 men and 12 women, mean age 43 years, SE = 14.2, range = 13–71) by grading their clinical severity and their presumed calcium intake during childhood, adolescence, and adulthood. Overall severity in the study group varied greatly and correlated positively with age (P < 0.001). Overall severity correlated positively with calcium ingestion as an adolescent (P < 0.001, with the other predictor variables held constant). Overall cardiovascular and eye severity were a function of age (P < 0.000001 for both), whereas skin severity was not.These results confirm that PXE is a highly variable condition that generally worsens with age and support the rationale for a clinical trial to determine the effects of different levels of dietary calcium ingestion in young PXE patients on their subsequent clinical course.
Frontofacionasal dysplasia: Evidence for autosomal recessive inheritance
Authors: Gollop T. R. , Kiota M. M. , Martins R. M. M. , Lucchesi E. A. , Alvarenga F0 E. 
Published: June 2005

AbstractWe report on a 2‐month‐old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S‐shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.
Börjeson‐Forssman‐Lehmann syndrome: Further delineation in five cases
Authors: Ardinger Holly Hutchison , Hanson James W. , Zellweger Hans U. 
Published: June 2005

AbstractWe have studied five males with Börjeson‐Forssman‐Lehmann syndrome (BFLS) from two unrelated families. They had a characteristic facial appearance with prominent supraorbital ridges, deep‐set eyes, ptosis, and large ears, as well as obesity, severe mental retardation, hypotonia, and hypogonadism. Ophthalmologic, EEG, and skeletal abnormalities were also present. The findings in several presumed or possible heterozygous women were evaluated and suggested a wide range of phenotypic effects varying between apparent normality to mild or moderately evident BFLS manifestations. The observed pattern of occurrence of the BFLS in our two families provides strong support for X‐linked inheritance. In clinically normal female relatives at risk for being carriers of BFLS, we have been unsuccessful in identifying a reliable screening test. The condition in our and previously reported patients was contrasted with other malformation syndromes and our findings support the conclusion that BFLS is a distinct and clinically indentifiable disorder.
A family study of renal dysplasia
Authors: Al Saadi A. A. , Yoshimoto Masanaga , Bree Robert , Farah Jalil , Chang Chung‐Ho , Sahney Shobha , Shokeir M. H. K. , Bernstein Jay 
Published: June 2005

AbstractA family study was undertaken to investigate genetic involvement in renal dysplasia, which is defined as abnormal metanephric differentiation. Probands were ascertained through the retrospective examination of necropsy records and the reevaluation of available material, which included microscopic examinations of the kidneys, gross descriptions of organs, and gross photographs. We obtained family histories and performed physical examinations and renal ultrasonography on parents and sibs of the 21 probands. In only one family a sibling with renal dysplasia was discovered; both the proband and the previous stillborn sib had renal dysplasia in association with posterior urethral values. Renal dysplasia could have resulted from urinary tract obstruction secondary to the urethral valves, with inheritance of the valves as the primary abnormality. However, we cannot exclude primary inheritance of the renal abnormality, perhaps with multifactorial determination with a threshold. The empiric recurrence risk of 2.1%, calculated from this family study, was statistically not significantly different from zero. We can assume, therefore, that the multicystic and aplastic types of renal dysplasia, which predominated in this study, are sporadic or rarely familial, but certain other types of renal dysplasia, identified in the literature as familial, probably carry a higher recurrence risk.
Prenatal diagnosis: The experience in families who have children
Authors: Black Rita Beck , Furlong Regina 
Published: June 2005

AbstractRecent investigations have documented the potentially stressful nature of prenatal diagnostic testing but no systematic attention has been paid to the particular experiences of women who already have other offspring in the home. Some evidence suggests an alteration of parent‐child relationships. Further support for need to inquire into this issue can be found in the extensive literature concerned with children's reactions to death and bereavement, as well as to miscarriage. Results are presented from a study of the experiences of families in which mothers used prenatal diagnostic testing. The sample consisted of 112 women drawn from an outpatient population receiving prenatal testing and their 175 living offspring who were 4 years old or older. Over two thirds of the mothers indicated they had told at least one child in the family about the testing, and children's reactions were characterized as very interested, with low to moderate levels of anxiety, worry, or confusion about the testing. More extreme, worrisome reactions were the exception. In a few cases children were reported to have been concerned about the possibilities of harm to the mother and about abortion. Some of the preschool age children seem to have been frightened by overly graphic descriptions of the procedure itself: A few mothers also voiced concerns that as a result of knowing about the testing their children might become frightened and feel less secure about their own imperfections.
Cytogenetic diagnosis using midtrimester fetal blood samples: Application to suspected mosaicism and other diagnostic problems
Authors: Watson Michael S. , Breg W. Roy , Hobbins John C. , Mahoney Maurice J. 
Published: June 2005

AbstractCytogenetic studies on fetal blood cells obtained at 18–25 weeks gestation have provided information for decision making in 25 cases identified as being at high risk of having an abnormal fetus. In particular, in the 21 cases studied to consider the possibility of true mosaicism, confirmation in fetal blood was obtained in three, one of which presented as a pseudomosaic on the original amniotic fluid cell study. Fetal blood was also informative in two cases (one positive and the other negative) in which a diagnosis of the fragile X syndrome was being considered. Furthermore, when high risk pregnancies presented late in gestation (21–24 weeks), these methods allowed for a rapid cytogenetic diagnosis. The procedure has proved useful in most of these cases since the couples involved had indicated that they would probably have terminated the pregnancy without the reassurance of normal fetal lymphocyte studies. Since the technique carries a much higher risk of pregnancy loss than does amniocentesis, its use should only be considered when there are compelling indications.
Elaboration of the phenotypic changes of the upper limbs in the Neu‐Laxova syndrome
Authors: Shved I. A. , Lazjuk G. I. , Cherstvoy E. D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present two new cases and data from a detailed study of the upper limbs (structural changes, the state of peripheral nerves, arteries, muscles and bones) of three stillborn infants with the Neu‐Laxova syndrome. The morphogenesis of many of the examined anatomical structures in these fetuses was anomalous. The origin of these anomalies is discussed.
Kindler syndrome in two related Kurdish families
Authors: Hacham‐Zadeh Shoshana , Garfunkel Adi A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a 19‐year‐old girl with Kindler syndrome. She has suffered from bullae on pressure areas of the skin since birth. These healed with atrophic scars and caused marked atrophy of the skin of the palms and soles and wrinkled and parchment‐like skin of the dorsum of the hands and feet. Since infancy the patient has also suffered from severe photosensitivity on exposed areas and developed poikiloderma on the skin of her face, neck, chest, and upper back. Since age 17 years the patient has been free of bullae but moderate photosensitivity exists. Oral examination showed limitation of mouth opening, ankyloglossia, overjet malocclusions, and atrophy of buccal mucosa with widespread white macules. Results of laboratory tests were within normal limits.The proposita's parents (family 1) are Jews of Kurdish origin and first cousins. She is the only one affected among five siblings. Family 1 is related to a second family (family 2) through a common great‐grandfather. The parents of family 2 are first cousins and they have three affected children. An autosomal recessive mode of inheritance of Kindler syndrome is suggested in these two related families.
Duplication 5q(5q22→5q33): From an intrachromosomal insertion
Authors: Martin Nicole J. , Cartwright David W. , Harvey Phillip J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an infant with an as yet undescribed partial duplication 5q(q22→5q33). He had a number of the already recorded manifestations of partial trisomy 5q, namely microcephaly, growth retardation, brachydactyly, long flat philtrum, thin upper lip vermilion and downturned angles of mouth and apparently low set ears. He survived only 6 months. He inherited his duplication from a maternal intrachromosomal insertion; thus he represents a pure dup(5)(q22→5q33).
Odontoonychodysplasia with alopecia: A new pure ectodermal dysplasia with probable autosomal recessive inheritance
Authors: Pinheiro Marta , Freire‐Maia Newton , Gollop Thomaz R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two Brazilian sisters who have a probably autosomal recessive ectodermal dysplasia of trichodysplasia, dental anomalies, onychodystrophy, skin alterations, and other findings. This appears to be the first full report of this condition for which we propose the name odontoonychodysplasia with alopecia.
Male‐to‐male transmission of the hypertelorism‐hypospadias (BBB) syndrome
Authors: Stoll Claude , Geraudel André , Berland Henri , Roth Marie‐Paule , Dott Béatrice , Holmes Lewis B. , Reynolds James F. 
Published: June 2005

AbstractA boy and his father with the hypertelorism‐hypospadias (BBB) syndrome are described. This example of male‐to‐male transmission is evidence that the BBB syndrome is not due to an X‐linked gene.
Interstitial deletion of the long arm of chromosome 10: Del(10)(q11.2q21)
Authors: Holden Jeanette J. A. , MacDonald E. Athen , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA de novo interstitial deletion of part of the long arm of chromosome 10 [de(10)(q11.2q21)] was identified by GTG (G‐bands by trypsin using Giemsa) banding in a 9‐year‐old girl with mental retardation and minor anomalies. Only one other case of a similar deletion has been reported [Ray et al, 1980] and the phenotypic findings of the two cases are compared.
Non‐mosaic partial tetrasomy and partial trisomy 9
Authors: Shapiro Steven D. , Hansen Kathryn L. , Littlefield Christine A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractPartial tetrasomy 9 is a very rare chromosome abnormality. Of the reported cases, most have had tetrasomy only of 9p arising from the formation of an isochromosome. In addition, mosaicism was found in five of the 12 previous cases. We report on a case of non‐mosaic partial tetrasomy 9 involving all of the short arms and asymmetrical segments of the long arms.
The phenotypic and cytogenetic spectrum of partial trisomy 9
Authors: Wilson Golder N. , Raj Anita , Baker Diane , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA new patient with trisomy for the chromosome segment 9pter→q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down‐turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra‐uterine growth retardation, cleft lip/palate, skeletal anomalies, and heart defects are more common with trisomic segments extending through 9q22‐9q32. A graphic method illustrates this progression in the partial trisomy 9 malformation spectrum as the triplicated chromosome region extends from bands 9q21 to 9q32. More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability.
Unbalanced translocation (15;17)(q13;p13.3) with apparent Prader‐Willi syndrome but without Miller‐Dieker syndrome
Authors: Elder F. F. B. , Nichols M. M. , Hood O. J. , Harrison W. R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe studied after death a 3‐month‐old girl whose karyotype was 45,XX, − 15, − 17, + der(17),t(15;17)(q13;p13.3) and thus combines abnormalities of chromosome 15 associated with the Prader‐Willi syndrome and of chromosome 17 associated with the Miller‐Dieker syndrome. This infant had several manifestations of the Prader‐Willi syndrome in infancy but none of the Miller‐Dieker syndrome. We propose that essentially no loss of 17p material has occurred and confirm previous reports that the critical region for the production of the Miller‐Dieker phenotype is located subterminally in the 17p13.3 region.
Discordant amniotic band sequence in monozygotic twins
Authors: Donnenfeld Alan E. , Dunn Linda K. , Rose Nancy C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractMultiple congenital anomalies were identified at 16 weeks gestation in one fetus of an unsuspected twin pregnancy while ultrasound examination was performed before routine genetic amniocentesis. Further sonographic studies documented the amniotic band sequence (ABS) and transient oligohydramnios in the affected fetus. The latter finding supports the theory of amnion rupture followed by amniotic fluid leakage through an ineffective chorion barrier as the pathogenesis of compression related anomalies in this syndrome. Extensive craniofacial involvement including hydrocephalus, encephalocele, and multiple facial clefts in the affected fetus, combined with an erroneous ultrasound diagnosis of ABS in the unaffected twin, created an extremely difficult management and counseling situation. A review of ABS, the embryology of placental membrane development, and a discussion of selective termination procedures are presented.
Osteogenesis imperfecta with unusual skeletal lesions: Report of three families
Authors: Levin L. Stefan , Wright John M. , Byrd D. Lamar , Greenway Guerdon , Dorst John P. , Irani Roshen N. , Pyeritz Reed E. , Young Richard J. , Laspia C. L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThirteen individuals with osteogenesis imperfecta (OI) from three families were evaluated. All examined persons with OI had multilocular radiolucent, radiopaque, or radiolucent‐radiopaque lesions of the maxilla and mandible. In most patients, the lesions involved the tooth bearing areas, but in two, the rami also were involved. Teeth were normal. Radiologic findings in the extragnathic skeleton included marked coarseness of trabeculae and diffuse osteopenia. It is proposed that these patients represent yet another dominantly inherited OI syndrome.
Evaluation of carrier detection of Duchenne muscular dystrophy using carbonic anhydrase III and creatine kinase
Authors: Heath R. , Carter N. D. , Jeffery S. , Edwards R. J. , Watts D. C. , Watts R. L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCarbonic anhydrase III (CAIII) and creatine kinase (CK) were measured in plasma samples from a series of females at‐risk as carriers of Duchenne muscular dystrophy and compared with control groups. Both plasma CAIII and CK levels were raised in a proportion of carriers. Although measurement of CAIII and CK was no more successful in identifying carriers than CK alone, CAIII could fulfill a useful confirmatory role, particularly for cases with a marginally elevated CK or where the sample is poorly preserved. The difference between the CK and CAIII results could indicate biochemical heterogeneity in the expression of Duchenne muscular dystrophy.
Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis)
Authors: Elejalde B. Rafael , De Elejalde Maria Mercedes , Booth Carol , Kaye Celia , Hollison Lynne , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. Prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and fibulae, which were very short; the fetus had bilateral hydronephrosis.
Visualization of the fetal spine: A proposal of a standard system to increase reliability
Authors: De Elejalde Maria Mercedes , Elejalde B. Rafael , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a method for the morphological, developmental, and functional analysis of the fetal spine. Using this system, different types of spina bifida and hemivertebrae have been discovered. A system of quality control and documentation is proposed and cases that were not detected ultrasonographically are described. The results of the analyses of seven abnormal fetuses out of 818 pregnancies examined by us and three referred after birth are presented, including fetuses with caudal regression, spina bifida, hemivertebrae with lordosis and kyphosis, and spina bifida without ultrasonographic or radiologic evidence of bone abnormality. Cases that were not diagnosed ultrasonographically by other observers are presented.