bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evidence of genetic variation for α‐N‐acetyl‐D‐glucosaminidase in black and white populations: A new polymorphism
Authors: Vance J. M. , Pericak‐Vance M. A. , Elston R. C. , Conneally P. M. , Namboodiri K. K. , Wappner R. S. , Yu P. L. , Optiz John M. 
Published: June 2005

AbstractSerum and/or plasma samples from 360 Whites and 126 Blacks were assayed for activity of the lysosomal hydrolase α‐N‐acetyl‐D‐glucosaminidase (NAG). The samples from the Blacks had an increased mean (0.50 nm/ml/min) and standard deviation (0.30 nm/ml/min) compared to those from the Whites (0.29 nm/ml/min and 0.10 nm/ml/min, respectively). After loge transformation and admixture analysis, it was possible to demonstrate the presence of 3 distributions of NAG activity in Blacks and at least 2 in Whites. Segregation analysis of the NAG activity of 29 White half‐sib twin families indicated that a genetic model for the inheritance of NAG activity provided a better fit (P < 0.01) with the data than the “environmental” model. Thus, the study suggests the presence of a genetic polymorphism for NAG activity in Black and White populations. The presence of alleles for high and low NAG activity in the normal population could lead to incorrect interpretation of serum carrier tests for Sanfilippo syndrome, type B.
Genetic diseases in Lebanon
Authors: Der Kaloustian Vazken M. , Naffah Josette , Loiselet Jacques , Optiz John M. 
Published: June 2005

AbstractLebanon has a high incidence of common and rare genetic diseases, due probably to the mosaic different ethnic origins and the high rate of consanguineous marriages in certain communities.Two major investigations, exploring the genetic structure of the Lebanese population, indicated the population to be caucasiods (though Oriental traits were found). These investigations involved studies of dermatoglyphics, and type and distribution of genetic markers and protein variants.Recorded genetic diseases, some characteristic of ethnic group or particular to a geographic region include familial paroxysmal polyserositis, familial hypercholesterolemia, hypothroidism, the Dyggve‐Melchoir‐Clausen syndrome, Sandhoff disease, and various genetic hematologic diseases.Genetic counseling and care to patients with genetic diseases is available in Beirut from the Faculty of Medicine at American University and St. Joseph University. Also, the Lebanese National Council for Scientific Research initiates and finances medical genetics programs.
Holoprosencephaly and endocrine dysgenesis in brothers
Authors: Begleiter Michael L. , Harris David J. , Optiz John M. 
Published: June 2005

AbstractWe report 2 brothers with holoprosencephaly, endocrine dysgenesis, and micropenis. This combination has been reported once previously in sibs (2 sisters) by Hintz et al (1968). In that case, autosomal recessive inheritance may have been the cause. The same may be true in our patients, but X‐linked recessive inheritance is not excluded.
Ring chromosome 2 in a child with growth failure and few congenital abnormalities
Authors: Vigfusson Norman V. , Kapstafer Kennard J. , Lloyd Marilyn A. , Optiz John M. 
Published: June 2005

AbstractA ring chromosome 2 mosaic [46,XX/46,XX,r(2)(p25q37)] was found in a newborn female with severe intrauterine growth retardation (IUGR), postnatal growth failure, and a few minor abnormalities. Psychomotor development has been normal to 19 months old. A ring chromosome 2 is present in 77.8% of the nuclei examined and is not found in the parents or a sibling. G‐ and R‐banding reveal the break points to be p25q37. The presence of a normal cell line indicates that the chromosome abnormality arose after conception.
Nonspecific X‐linked mental retardation I: A review with information from 24 new families
Authors: Herbst Diana S. , Optiz John M. 
Published: June 2005

AbstractClinical manifestations and other aspects of nonspecific X‐linked mental retardation are reviewed using data from the literature and information on affected males in 24 new families ascertained in British Columbia. A great degree of variability was apparent in the mental abilities of affected males. Speech defects, other CNS disorders and minor physical changes such as “big” ears or a highly arched palate were not present in many cases. Evidence for the existence of a clinical entity of mental retardation associated with the fragile site at Xq27 or 28 and macro‐orchidism is discussed. Genetic phenomena of reduced penetrance in males and of partial expression in females with respect to X‐linked recessive genes are examined. Consideration is given to the question of whether this type of mental retardation is due to X‐linked recessive or autosomal dominant sex‐limited genes. Most ascertained cases of X‐linked mental retardation are from families of northern European extraction. Recommendations are made regarding the diagnosis and counseling of X‐linked mental retardation cases.
The estimation of phenotype distributions from pedigree data
Authors: Winter Robin M. , Optiz John M. 
Published: June 2005

AbstractA method is described to estimate from pedigree data the probability density function of a quantitative phenotype, given a specific genotype. Theoretically, pedigrees of any size or complexity that are segregating for conditions of known Mendelian inheritance can be used. Under certain circumstances, the estimates are unbiased by the method of ascertainment.
Coloboma‐hypospadias
Authors: Halal Fahed , Farsky Katarina , Opitz John M. 
Published: June 2005

AbstractWe report a five‐year‐old boy with bilateral ocular coloboma, hypertelorism, hypospadias, and mental retardation. The father has hypertelorism and a deceased sibling had unilateral iris coloboma. This observation may represent (1) the BBB syndrome with coincidentally segregating coloboma; (2) discovery of coloboma as a new but rare component manifestation of the BBB syndrome; or (3) a new autosomal dominant pleiotropic syndrome.
Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs
Authors: Schwartz Sheldon Miles , Viseskul Chirane , Laxova Renata , McPherson Elspeth W. , Gilbert Enid F. , Opitz John M. 
Published: June 2005

AbstractWe report four patients with idiopathic hydrops fetalis (IHF), two being affected sibs; the latter represent the first reported familial occurrence. A review identified 45 additional cases that seem to represent 1/3 to 2/3 of all cases of hydrops fetalis of nonimmunologic origin (NIHF). Our patients and the other adequately documented cases permit delineation of “idiopathic” fetal hydrops; ie, that form of the condition which is not associated with any detectable fetal or maternal disorders. These fetuses are usually premature, often the product of a gestation complicated by pre‐eclampsia, occasional maternal anemia, and most often polyhydramnios. The fetuses have striking edema of most tissues with effusions into serous cavities, but no other specific anatomic abnormalities. They are often hypoproteinemic, but not anemic and do not manifest signs of accelerated hematopoiesis. Results of fetal and maternal immunohematological examination are normal. Fetal mortality rates approach 100% but recent data suggest that salvage rates can be significantly improved with early diagnosis. This requires accurate diagnosis and all factors and conditions known to be associated with other types of NIHF should be excluded. A relationship between fetal hypoalbuminemia and IHF may exist and needs further investigation. IHF is sporadic in most instances; however, recessive inheritance may be indicated by occurrence in two sibs. IHF represents a distinct, frequently unrecognized and relatively common entity in need of further study and increased recognition.
Deletions of different segments of the long arm of chromosome 4
Authors: Mitchell Joyce A. , Packman Seymour , Loughman William D. , Fineman Robert M. , Zackai Elaine , Patil Shivanand R. , Emanuel Beverly , Bartley James A. , Hanson James W. , Opitz John M. 
Published: June 2005

AbstractWe report the clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4. Four of these patients appear to have terminal deletions beginning in band 4q31, and therefore, lack the digital 1/3 of the long arm of chromosome 4. We confirm that deletion of 4q31→qter causes a recognizable syndrome, and we further define the phenotype of that syndrome. A 5th patient has a shorter terminal deletion, ie, 4q33→qter. This deletion causes a milder phenotypic expression than that seen in the severe 4q terminal‐deletion syndrome. The remaining 3 patients have interstitial deletions of the long arm of the 4th chromosome, including segments 4q21.1→q25, 4q21.3→q26, and 4q27→q31.3. The phenotypic expression noted in these patients is variable and differs from the 4q terminal‐deletion syndrome.
The King syndrome: Malignant hyperthermia, myopathy, and multiple anomalies
Authors: McPherson Elspeth W. , Taylor Claude A. , Opitz John M. 
Published: June 2005

AbstractHeterogeneity in malignant hyperthermia is being recognized with increasing frequency. In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and a characteristic facial appearance. Seven cases have been reported, all in males. We present the case of a girl with similar clinical findings who died in a malignant hyperthermia crisis and review the previously reported cases of King syndrome. The delineation of King syndrome provides further evidence for the heterogeneity of malignant hyperthermia and increases awareness of this disorder; its recognition in a female may lead to preoperative diagnosis and prevention of malignant hyperthermia crisis in King syndrome patients.
Psychosocial aspects of patients with the Ullrich‐Turner syndrome
Authors: Chen Harold , Faigenbaum David , Weiss Harold , Opitz John M. 
Published: June 2005

AbstractFamily and social background and psychosexual and psychomotor development were studied on 24 patients with the Ullrich‐Turner syndrome ranging in age from 9 months to 18 years. Infancy is often characterized by mild feeding problems and sleeping difficulty. Early motor development is normal or mildly delayed but acquisition of speech and toilet training appear to be appropriate for age. Social skills are excellent. Psychopathology is not a significant aspect of the Ullrich‐Turner syndrome. Psychological tests support the findings of verbal IQ exceeding performance IQ, space‐form perceptual deficits, and visual motor deficit. No difference of intelligence was found between apparently nonmosaic and mosaic types of Ullrich‐Turner syndrome. The degree of parental understanding and appropriate attitudes toward the patient and the syndrome largely depend on good family relationships, the socieconomic level of the family, parents' personalities and their ability to cope with the implications of the syndrome, and appropriate physician's counseling.
Early recognition of the Coffin‐Lowry syndrome
Authors: Wilson William G. , Kelly Thaddeus E. , Opitz John M. 
Published: June 2005

AbstractWe report a 2‐year‐old male infant with the Coffin‐Lowry syndrome, and describe the change in his clinical and radiographic manifestations during the first 2 years of life. Review of published cases of the Coffin‐Lowry syndrome indicates that these manifestations are progressive, and that all of the associated characteristics may not be apparent in early childhood. The importance of continued evaluations of these patients and examination of relatives for mild manifestations is emphasized.
Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5
Authors: Taylor M. J. , Josifek K. , Opitz John M. 
Published: June 2005

AbstractA female infant was born at term with congenital anomalies and a deletion of the short arm of chromosome 5. The anomalies included thymic dysplasia and lymphocyte‐depleted nodes of the type seen in combined immune deficiency; atrial and ventricular septal defects, pulmonary valve atresia, and anomalous pulmonary‐bronchial communication through the lungs; and shortness of forearms with syndactyly of fingers. A review indicates that the association of cardiac lesions, thymic dysplasia, oligosyndactyly and deletion of chromosome 5p is unique.
Autosomal dominant late adult spinal muscular atrophy, type finkel
Authors: Richieri‐Costa A. , Rogatko A. , Levisky R. , Finkel N. , Frota‐Pessoa O. , Opitz John M. 
Published: June 2005

AbstractWe describe clinical and genetic data from the study of two families with 80 members affected with the autosomal dominant, slowly progressive spinal muscular atrophy of late onset (average 48.8 years), first described by Finkel in 1962. Electromyography and muscle biopsy of a number of patients confirmed the neurogenic nature of the condition. Unusual findings in this disorder were cramps, spontaneous fits of suffocation, and symptomatic myotonia. Other manifestations are slow loss of muscle strength and progressive proximal atrophy, which starts in the lower limbs and progresses to the upper limbs; hypoactive or absent tendinous reflexes; and generalized fasciculations. Sensory and cranial nerve function is unimpaired. Probabilities for genetic counseling are evaluated by means of a method adequate to the late‐onset nature of the condition.
Further delineation of the C (trigonocephaly) syndrome
Authors: Antley Ray M. , Hwang Do Sung , Theopold W. , Gorlin Robert J. , Steeper T. , Pitt David , Danks David M. , McPherson Elspeth , Bartels H. , Wiedemann H.‐R. , Opitz John M. , Herrmann Jürgen 
Published: June 2005

AbstractThis communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, short limbs, and joint dislocations and/or contractures); visceral defects (congenital heart defects, cryptorchidism, and abnormal lobulations of the lungs and kidneys). Auricular, mandibular, skin, and genital abnormalities also occur. Consistent neurological findings are hypotonia, strabismus, and psychomotor retardation; seizures have been reported. Normal chromosomes, normal parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all support autosomal recessive inheritance of the C syndrome. In autopsied cases, there has been a suggestion of defective central nervous system myelination. About ½ of the cases have died within the first year. All survivors have severe to profound mental retardation except for one child who has moderate retardation.
46, XX, del (18p) with amenorrhea, hypothyroidism, and ptosis
Authors: Stoffer Sheldon S. , Koen Anna L. , Abbasi Ali A. , Brown Saul , Opitz John M. 
Published: June 2005

AbstractA 17‐year‐old girl was initially evaluated because of primary amenorrhea and lack of sexual development. Chromosome studies demonstrated the presence of 46, XX, del (18p). The patient is now 21 years old and still has not menstruated. This is the first reported case of 46, XX, del (18p) presenting with primary amenorrhea. The case is of additional interest in that ptosis, a common finding in this syndrome, was not present at birth but was first noted at age 9.
Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: A new genetic syndrome in 3 sibs
Authors: Lison Michael , Kornbrut Benjamin , Feinstein Avraham , Hiss Yehuda , Boichis Haim , Goodman Richard M. , Opitz John M. 
Published: June 2005

AbstractWe describe progressive spastic paraparesis of the lower limbs in the presence of generalized vitiligo, premature graying of body hair, and distinct facial appearance in 3 sibs whose parents are first cousins. The condition is considered an autosomal recessive trait. The pathogenesis of this neurocutaneous disorder is unknown.
Familial cutaneous amyloidosis with systemic manifestations in males
Authors: Partington M. W. , Marriott P. J. , Prentice R. S. A. , Cavaglia A. , Simpson N. E. , Opitz John M. 
Published: June 2005

AbstractWe describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near‐blindness from amyloid deposition in the cornea.Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years.We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X‐linked.
Genetics of cerebrotendinous xanthomatosis (CTX): An autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin
Authors: Berginer Vladimir M. , Abeliovich Dvorah , Opitz John M. 
Published: June 2005

AbstractWe describe 6 patients (from 3 families) affected with cerebrotendinous xanthomatosis (CTX). All are Sephardic Jews of Moroccan extraction. In view of the small number of CTX patients diagnosed in the world (a total of 50 including our 6 patients), we are probably dealing with an ethnic subgroup with a high CTX gene frequency, which we have estimated to be 1/108. Since there are differences in expression in this disease, we recommend cholestanol study in cases of undiagnosed cataract or tendinous xanthomas in childhood or early adolescence. The diagnosis in CTX is important not only for genetic counseling, but also in view of possible treatment.
The dup(17p) syndrome
Authors: Feldman G. M. , Baumer J. G. , Sparkes R. S. 
Published: June 2005

AbstractIn a 42‐month‐old girl a duplicated 17p chromosome anomaly was identified by trypsin‐Giemsa banding techniques. The clinical findings are compared with those of previous case reports. Common phenotypics changes include failure to thrive; hypoplastic, apparently low‐set ears; micrognathia; flexion abnormalities of fingers; and foot abnormalities.
Langer–Giedion syndrome with interstitial 8q–deletion
Authors: Zabel Bernhard U. , Baumann Walter A. , Opitz John M. 
Published: June 2005

AbstractWe describe a 12‐year‐old girl with Langer‐Giedion syndrome (tricho‐rhino‐pha‐langeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter→q22::q234→qter) as a cause of this syndrome.
Syndactyly type V
Authors: Robinow Meinhard , Johnson G. Frank , Broock Gerald J. , Opitz John M. 
Published: June 2005

AbstractWe report a mother and three of her four children with type V syndactyly. All the patients had metacarpal 4–5 fusion. The other hand anomalies consisted of abnormal origin of the fifth fingers, anomalies of digits 4 and 5, brachydactyly, syndactyly, camptodactyly, absent distal interphalangeal creases, and unusual palmar dermatoglyphics. Anomalies of the feet consisted of varus deviation of the metatarsals, valgus deviation of the toes, hyperplasia of the first ray, and hypoplasia of the third to fifth rays. None of the patients had metatarsal fusions. The anomalies were similar in the mother and her two older sons far less severe in her daughter. This daughter also had a congenital anomaly of the urinary tract. Anomalous and/or defective muscle and tendon insertions were demonstrated in one patient during an operation. Syndactyly V is transmitted as an autosomal dominant trait.
Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism
Authors: Majewski F. , Ranke M. , Schinzel A. , Opitz John M. 
Published: June 2005

AbstractWe describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V‐shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this “new” type of IUGR remains unclear.
A cost‐benefit analysis of prenatal diagnosis for neural tube defects selectively offered to relatives of index cases
Authors: Sadovnick A. D. , Baird P. A. , Opitz John M. 
Published: June 2005

AbstractRelatives of patients with neural tube defects (NTD) frequently request prenatal diagnosis for this problem, and it would be helpful to have information on cost‐benefit aspects of offering this service to them.A cost‐benefit analysis was done for selective prenatal diagnosis offered to parents and aunts of index cases as these are the two groups for which adequate empiric data are available. The results are extrapolated to other relatives.The study concludes that prenatal diagnosis is cost‐beneficial if selectively offered for pregnancies where the fetus is a first or second degree relative of an index case. The results are discussed in terms of whether prenatal diagnosis should be offered to all aunts of index cases or only to maternal aunts.The lifetime costs of caring for an individual with spina bifida, in 1980 dollars, was calculated to be approximately $84,000.
Studies of malformation syndromes of humans XXXIIIC: The FG syndrome — further studies on three affected individuals from the FG family
Authors: Opitz John M. , Kaveggia Elizabeth G. , Adkins William N. , Gilbert Enid F. , Viseskul Chirane , Pettersen James C. , Blumberg Bruce , Herrmann Jürgen 
Published: June 2005

AbstractThe brain findings at autopsy of an 18‐year‐old male with FG syndrome were megalencephaly, midline fusion of mammillary bodies, heterotopia of neuroglial tissue in the 7th and 8th nerves, and ependymal cell replacement by neuroglial tissue as well as a diffuse defect of neuronal cell migration evidenced from pachygyria of many gyri, dysgenesis of cerebral cortex, and heterotopia of neurons in the white matter of the centrum ovale. A cousin, studied at 20 weeks' gestational age, had gross turridolichocephaly with enlarged cranium and also multiple minor external and internal anomalies. An affected brother of this fetus died at 17 months of complications of a congenital heart defect and CNS dysfunction. X‐linked inheritance of the FG syndrome is confirmed.
Ring chromosome 17 in a mentally retarded young man—clinical, cytogenetic, and biochemical investigations
Authors: Chudley Albert E. , Pabello Paulino D. , McAlpine Phyllis J. , Nickel Barbara E. , Shokeir M. H. K. , Opitz John M. 
Published: June 2005

AbstractA young, mentally retarded man with seizures was discovered to have a ring chromosome 17. He had no major anomalies. The phenotype associated with r(17) probably is variable. The patient's deletion and genotype allowed us to reduce further the chromosome location of the acid α‐glucosidase gene.