bluuebunny/crossref_metadata_2025_split huggingface dataset:
Male to male transmission of cerebral gigantism
Authors: Halal Fahed 
Published: June 2005

AbstractWe report three individuals (two brothers and their father) with cerebral gigantism. All three had striking macrocephaly, large birth weight, gigantism, and variaable degrees of psychomotor retardation. Other findings included abnormal dermatoglyphics and an unusual metacarpophalangeal pattern profile in two of the three. To our knowledge, this is the first family with documented male to male transmission of cerebral gigantism.
Chondrodystrophic myotonia (schwartz‐jampel syndrome): Report of a new case and follow‐up of patients initially reported in 1969
Authors: Edwards William C. , Root Allen W. , Opitz John M. 
Published: June 2005

AbstractWe report on a 9‐year‐old boy with chondrodystrophic myotonia (Schwartz‐Jampel syndrome) and the progress of a brother and sister with this syndrome first described in 1969. This is an autosomal recessive trait characterized by mask‐like face, narrow palpebral fissures (due to blepharophimosis, blepharospasm, and abnormal orbital configuration), microstomia, micrognathia, myotonia, muscular hypertrophy, osteochondrodysplasia, and growth retardation. Expressivity varies and in some sibships females are less severely affected than their brothers. The sexual development of the sibs with chondrodystrophic myotonia, who are now in the mid to late second decade, has been normal. Linear growth rate accelerated during puberty but the adult height of the male is less than normal. Administration of human growth hormone had no consistent effect on the growth pattern of this boy.
Limb deficiency and splenogonadal fusion
Authors: Pauli Richard M. , Greenlaw Ann 
Published: June 2005

AbstractWe report a 10‐year‐old boy with tetramelic limb deficiencies, splenogonadal fusion, and mild mandibular and oral abnormalities. This patient is quite typical of 14 reported cases with this combination of findings. This association must be nosologically closely related to the Hanhart syndrome and other syndromes of limb deficiency and orofacial abnormalities. Recent experience does not support the idea that limb reduction with splenogonadal fusion is an invariably lethal dominant disorder.
The effect of parental age on rate of mutation for duchenne muscular dystrophy
Authors: Yasuda Norikazu , Kondo Kiyotaro , Opitz John M. 
Published: June 2005

AbstractThe effect of parental age on mutation rates at the Duchenne Muscular Dystrophy (DMD) locus was studied in 514 male probands who constitute two thirds of the known patients in Japan. We were unable to detect an effect of maternal age at birth of proband or maternal grandfather's age at birth of the mother of the proband on the rate of DMD mutations. The result supports an observation on the hemophilia gene.
Phenotypic heterogeneity in cystic fibrosis
Authors: Sing Charles F. , Risser David R. , Howatt William F. , Erickson Robert P. 
Published: June 2005

AbstractWe have confirmed heterogenity in CF using a different combination of primary clinical variables than those used in previous studies. Subgroupings of individuals with similar levels of sweat chloride were independent of the clustering based on level of pancreatic enzyme supplementation and degree of pulmonary involvement. Data from families with multiple CF children are consistent with the hypothesis that the genetic etiology of CF involves two or more genes that modify the expression of the primary gene defect.
Identical male twins and brother with Cockayne syndrome
Authors: Houston C. Stuart , Zaleski Witold A. , Rozdilsky Bohdan , Opitz John M. 
Published: June 2005

AbstractThe clinical, radiological, and neuropathological findings in early onset Cockayne syndrome are illustrated in identical twins and their brother. Their appearance of dwarfism with small head and prominent beaked nose strongly resembled that seen in the Seckel syndrome, but unlike patients with that syndrome they had a normal birth weight (for twins), thick cranial vaults, intracranial calcification, and a severe degree of mental retardation. The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts.Their hands and feet were large in proportion to their small trunk. They had cutaneous sensitivity to any slight exposure to ultraviolet light and severe neurologic problems with incoordination and spasticity. Radiologic findings included microcephaly, a thick cranial vault, a small pelvis, coxa valga, and “ivory epiphyses” in terminal phalanges of hands and feet. Pathologic findings included atrophy of white matter with widespread patchy demyelination, and massive siderocalcific deposits in the brain, particularly in the basal ganglia and cerebellum. While autosomal recessive inheritance is most likely, formally X‐linked inheritance cannot be excluded.
The Angelman syndrome in two brothers
Authors: Pashayan Hermine M. , Singer William , Bove Catherine , Eisenberg Ellen , Seto Boon 
Published: June 2005

AbstractWe report two brothers with the Angelman syndrome. With the exception of the reports by Kuroki et al, all previously reported cases were sporadic. Overall sex ratio is M1:F1. Genetic heterogeneity may be present. Further data are required to determine emperic recurrence risks after a first occurrence in a family. A few cases may be due to autosomal or X‐linked recessive inheritance. No chromosome abnormality has been found to date.
Deletion of the long arm of chromosome 11, [del(11)(q23)]
Authors: Monteleone Patricia L. , Chen Su‐Chiung , Nouri‐Moghaddam Soraya , Blair John D. , Tietjens Michael , Opitz John M. 
Published: June 2005

AbstractWe report sporadic occurrence of deletion of the long arm of chromosome 11 (q23 ⇀ qter) in a male newborn infant with intrauterine growth retardation, craniofacial, cardiac, and orthopedic abnormalities and neonatal death but without genital abnormalities. This deletion is seen predominantly in females; here we emphasize the importance of an XX sex chromosome constitution as a factor determining phenotypic expression of and survival in the del(11q) syndrome. We also provide a description of the cardiovascular system from postmortem examination. The cardiac findings are similar to those of two previously autopsied cases and will assist in early clinical diagnosis of the 11q‐syndrome.
Pachyonychia Congenita (Jadassohn‐Lewandowsky syndrome): A seventeen‐member, four‐generation pedigree with unusual respiratory and dental involvement
Authors: Stieglitz J. B. , Centerwall W. R. , Opitz John M. 
Published: June 2005

AbstractPachyonychia Congenita (PC) is an autosomal dominant syndrome of thick nails and other epithelial defects. A hospitalization for severe respiratory distress in a 3‐year‐old boy with PC and an affected father led to the discovery of 17 affected persons in a kindred spanning four generations. Nine relatives had varying degrees of upper respiratory tract obstruction, and eleven had dental aberrations.We review PC and discuss other unusual findings in this kindred, ie, arthritis in four affected relatives and a discrepancy between expected and observed ratios of affected to unaffected offspring of mothers with PC.
Ring‐11 chromosome: Phenotype‐karyotype correlation with deletions of 11q
Authors: Cousineau Anthony J. , Higgins James V. , Scott‐Emuakpor Ajovi B. , Mody Gita , Opitz John M. 
Published: June 2005

AbstractThe cytogenetic evaluation of a female infant with congenital anomalies led to the identification of the second reported case of a ring‐11 chromosome. Unlike the previously described case, in which the patient had only minimal clinical findings and no demonstrable loss of material from the ring, our patient had numerous anomalies that were asssociated with a substantial deficiency of 11q material. The different phenotypes in these two cases represent variation in the amount and location of the chromosomal material lost during the genesis of the ring.The manifestations of this patient and the deletion of region q24→qter from the ring‐11 identify a specific chromosome deletion syndrome referred to as del (11q) syndrome.
Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment
Authors: Cohen Maimon M. , Lerner Cynthia , Balkin Nancy E. 
Published: June 2005

AbstractTwo members of a large family had a similar multiple congenital anomalies mental retardation (MCA/MR) syndrome and an identical aberration of chromosome 16. Their mothers, who are first cousins, had a different abnormality of one chromosome 16, which appeared to be an acrocentric. We interpret these findings as an insertion of a segment of 16p into 16q, following a three‐break rearrangement and meiotic crossing over. The two abnormal children have a duplication of 16p11→p13. The clinical manifestations of these patients differ from those of previously reported cases of dup(16p).
Radial ray aplasia and renal anomalies in father and son: A new syndrome
Authors: Sofer Shaul , Bar‐Ziv Jacob , Abeliovich Dvorah 
Published: June 2005

AbstractWe describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found.We compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that we are dealing with a different entity, which apparently is inherited as a dominant trait.
Search for a red cell enzyme or serum protein marker in amyotrophic lateral sclerosis and parkinsonism‐dementia of guam
Authors: Blake N. M. , Kirk R. L. , Wilson S. R. , Garruto R. M. , Gajdusek D. C. , Gibbs C. J. , Hoffman P. , Opitz John M. 
Published: June 2005

AbstractFrequency distributions were determined for 24 red cell enzyme and four serum protein systems, in an attempt to identify a genetic marker associated with either amyotrophic lateral sclerosis (ALS) or parkinsonism‐dementia (PD), two progressive and fatal neurological disorders of unknown cause found with unusually high incidence among the Chamorros of Guam and the Northern Mariana Islands. No striking associations were identified between either disorder and any of the gene markers tested. Thus, no genetic cause is known for either disease; local environmental factors are most likely involved in pathogenesis.
Progressive hemifacial atrophy (Parry‐Romberg syndrome) report with review of genetics and nosology
Authors: Lewkonia R. M. , Lowry R. B. , Opitz John M. 
Published: June 2005

AbstractWe describe a boy with mild hemifacial atrophy (Parry‐Romberg syndrome); he had localized scleroderma on a leg and his trunk, and antinuclear antibodies in his serum. These findings support suggestions that this disorder could be a variant of localized scleroderma rather than a developmental anomaly or dysplasia. A review of the literature does not support assertions of autosomal dominant inheritance of the condition.
First report of mosaic trisomy 12 in a liveborn individual
Authors: Patil Shivanand R. , Bosch E. Peter , Hanson James W. 
Published: June 2005

AbstractTrisomy 12 mosaicism was found in a 36‐year‐old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a “complete” trisomy 12 in a liveborn individual.
Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay‐Sachs carrier screening
Authors: Nakagawa Sachiko , Kumin Selma , Sachs Gay , Nitowsky Harold M. 
Published: June 2005

AbstractAlthough reduced acid β‐glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, patients with this disorder also have marked elevation of serum acid phosphatase and β‐hexosaminidase activities but with a normal level of lactic dehydrogenase activity. Moreover, there is a characteristic alteration in the hexosaminidase isozyme distribution with a striking increase in hexosaminidase B. Since these changes appear to be consistent and unlike those associated with other disorders or the hormonally induced alterations associated with pregnancy, routine serum testing for the Tay‐Sachs carrier state may offer a useful approach for the presumptive diagnosis and screening for Gaucher disease. Unlike the changes in affected homozygotes, there are no characterisitic alterations of acid phosphatase or hexosaminidase in heterozygotes for Gaucher disease.
Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31
Authors: Wilson Miriam G. , Modebe O. , Towner Joseph W. , Frasier S. Douglas , Lin Ming S. , Opitz John M. 
Published: June 2005

AbstractThe full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.
Autosomal recessive anophthalmia with multiple congenital abnormalities—type Waardenburg
Authors: Richieri‐Costa A. , Gollop T. R. , Otto P. G. , Opitz John M. 
Published: June 2005

AbstractWe report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.
The branchio‐oto‐renal (BOR) syndrome: Report of bilateral renal agenesis in three sibs
Authors: Carmi R. , Binshtock M. , Abeliovich D. , Bar‐Ziv J. , Opitz John M. 
Published: June 2005

AbstractWe report a man who had the branchio‐oto‐renal (BOR) syndrome with crossed renal ectopia. His three children were born with bilateral renal agenesis and the so‐called Potter syndrome.This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha‐fetoprotein as screening methods for renal agenesis. This case also implies strongly the necessity for meticulous search for renal anomalies in individuals with the BOR syndrome and proper counseling regarding the possiblity of lethal bilateral renal agenesis.
Familial paracentric inversion of 1p
Authors: Romain Dennis R. , Columbano‐Green Letizia M. , Whyte Sally , Smythe Rosalind H. , Parfitt Richard G. , Gebbie Owen B. , Chapman Cyril J. , Opitz John M. 
Published: June 2005

AbstractWe report a paracentric inversion of 1p in a boy with mild mental retardation. The chromosome aberration was identified by high resolution chromosome banding, and was also present in his phenotypically normal mother and other relatives. The boy's karyotype was considered to be 46,XY,inv(1) (p31,2 p36.22) ISCN (1981).
Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22)
Authors: Bowen P. , Fitzgerald P. H. , Gardner R. J. M. , Biederman B. , Veale A. M. O. 
Published: June 2005

AbstractWe describe a kindred in which an ins(10;8)(q21;q212q22) chromosome rearrangement has been segregating for at least four generations. The risk for balanced carriers to have offspring with duplication of 8q212→8q22 is about 0.31. Individuals with unbalanced chromosomes are mildly to moderately mentally retarded and have a similar unusual appearance. Other manifestations include highly arched or cleft palate (8/9), micrognathia (6/9), sloped shoulders (4–6/9), convulsions (4/9), camptodactyly (3/9), pectus excavatum (2/9), elbow contractures (1/9), and postaxial polydactyly (1/9). The appearance and habitus resemble the mosaic trisomy 8 syndrome, although other anomalies of mosaic trisomy 8, such as vertebral, patellar, and renal defects, were not demonstrated.
Clinical and genetic aspects of antithrombin III deficiency
Authors: Halal Fahed , Quenneville Guy , Laurin Suzanne , Loulou Ginette , Opitz John M. 
Published: June 2005

AbstractWe have reviewed the clinical data on 120 individuals (from four personally studied families and 14 families from the literature) with inherited symptomatic antithrombin III deficiency in order to obtain information useful for genetic counseling and short‐ and long‐term prophylaxis in heterozygotes of the mutant gene.
HARD (± E) syndrome: Report of a sixth family with support for autosomal‐recessive inheritance
Authors: Aymé Ségolène , Mattei Jean‐François 
Published: June 2005

AbstractWe report on two sibs with hydrocephalus, encephalocele, agyria and ocular anomalies, an association known as the HARD ± E syndrome. This is thought to be the sixth reported family and third instance of familial occurrence of this autosomal‐recessive syndrome which deserves consideration in the nosology of every case of neural tube defect (hydrocephalus).
Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes
Authors: Aarskog Dagfinn , Ose Leiv , Pande Helene , Eide Nils , Opitz John M. 
Published: June 2005

AbstractWe describe the clinical findings and natural history of an autosomal dominant form of partial lipodystrophy found in four affected individuals from three generations in the same family. The lipodystrophy was present from infancy/early childhood, involved primarily the face and local areas on the buttocks, and was nonprogressive. Affected individuals also had the Rieger anomaly, midface hypoplasia, short stature, retarded bone age, and hypotrichosis. An affected woman developed insulinopenic diabetes mellitus at 39 yr and another had glucose intolerance at 55 yr.
Oculogastrointestinal muscular dystrophy
Authors: Ionasescu Victor , Opitz John M. 
Published: June 2005

AbstractThe author reports on four patients (one male, three females) from the same kindred with a newly recognized autosomal recessive condition involving striated and smooth muscle that has been designated oculogastrointestinal muscular dystrophy. It is characterized by ptosis, ophthalmoplegia, and progressive intestinal pseudo‐obstruction leading to malnutrition and death before 30 y. Autopsy studies in two cases showed a severe primary myopathy of smooth muscles of the stomach and intestine with intact myenteric plexus and vagus nerves. The proposita notably had myopathic changes of striated muscles but also involvement of the peripheral nerves and central nervous system characterized by demyelinating and axonal neuropathy and focal spongiform degeneration of the posterior columns.
Brief report: Linkage between G6PD and fragile‐X syndrome
Authors: Filippi Giorgio , Rinaldi Antoniettina , Archidiacono Nicoletta , Rocchi Mariano , Balazs Ivan , Siniscalco Marcello 
Published: June 2005

AbstractEighteen Sardinian pedigrees segregating for the X‐fragile site syndrome were studied with respect to the segregation of the fragile site (FS) at Xq28, mental retardation, and macro‐orchidism. No exception was found in the association of this symptomatic triad (MOM‐X) in 41 out of 42 patients examined. The exceptional individual had micro‐ rather than macro‐orchidism and was found to have a 47, XXY sex chromosome complement. In six informative sibships, the MOM‐X syndrome was found to segregate in close linkage association with G6PD‐deficiency or protan colorblindness. The maximum likelihood estimate of recombination is 6% with 90% fiducial limits between 2.5 and 19.5% and an odds ratio in favor of measurable linkage of 428:1. However, no hint of measurable linkage was found in six pedigrees segregating for G6PD and the Renpenning syndrome or other unspecified types of X‐linked mental retardation. These data give strong support to the generally held hypothesis that the FS at Xq28, characteristic of the MOM‐X syndrome, is a direct expression of a genetic change in the same chromosomal region. They also clearly suggest that X‐linked MR without FS may be the result of different allelic mutations at the same locus.
Interstitial deletion 2q31→q33
Authors: Buchanan Philip D. , Rhodes Robin L. , Stevenson C. Edward , Opitz John M. 
Published: June 2005

AbstractWe present an 8‐month‐old female with severe retardation of growth and development, multiple congenital anomalies, and an interstitial deletion del(2)(q31→q33) including results of cytogenetic and gene marker studies. The manifestations of this infant are compared with those of four other known patients with a partial del(2q).
Dominantly inherited syndrome of microcephaly and cleft palate
Authors: Halal Fahed , Opitz John M. 
Published: June 2005

AbstractTwo sisters and their mother had a syndrome of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild mental retardation, and abnormal dermatoglyphics. This is an evidently dominantly inherited trait, either autosomal or X‐linked.
Chondroectodermal dysplasia (Ellis‐van Creveld) with anomalies of CNS and urinary tract
Authors: Rosemberg Sérgio , Carneiro Paulo C. , Zerbini Maria Claudia N. , Gonzalez Claudette H. , Opitz John M. 
Published: June 2005

AbstractWe report on a 19‐month‐old girl with chondroectodermal dysplasia (Ellis‐van Creveld) and other previously undescribed visceral and central nervous system anomalies. These anomalies include cerebral heterotopias, renal agenesis, and congenital megaureter.
Presence of H‐Y antigen in female patients with sex‐chromosome mosaics and absence of testicular tissue
Authors: Müller Ulrich , Mayerova Antonia , Fraccaro Marco , Zuffardi Orsetta , Mikkelsen Margareta , Prader Andrea 
Published: June 2005

AbstractH‐Y antigen was tested in five women with sex chromosome mosaicism and gonadal streaks. Three patients had a 45,X/46,XY or 46,X,der(Y) and two a 45,X/46,X,der(X) chromosome constitution. All patients were H‐Y antigen positive. Lack of testis differentiation in these women may be explained by subthreshold expression of H‐Y antigen, different H‐Y antigen molecules, and/or different tissue distribution of the chromosome mosaicism.
Postzygotic D/D translocation homozygosity associated with recurrent abortions
Authors: Maeda Tohru , Ohno Michiko , Takada Masumi , Matsunobu Akira , Arai Masao 
Published: June 2005

AbstractA Robertsonian translocation involving homologous D chromosomes was found in two cases with a history of recurrent abortions. In the first case the propositus was a 37‐year‐old phenotypically normal man who had a balanced t(14q14q) translocation. In the second case, a 27‐year‐old phenotypically normal woman was found to be a balanced t(15q15q) translocation carrier. The recurrent abortions in both cases were probably owing to this translocation.
Consanguinity studies in Wisconsin I: Secular trends in consanguineous marriage, 1843–1981
Authors: Lebel Robert Roger , Opitz John M. 
Published: June 2005

AbstractOver 920,000 Roman Catholic marriages have taken place since the Archdiocese of Milwaukee was established in 1843. Most of these records are extant, and all have been examined to ascertain consanguineous marriages. The changing average population coefficient of consanguinity has been calculated, by year and by decade, showing a clear downward trend since the turn of the century. The data are compared with reports of consanguineous marriage incidence from around the world, and in particular with all available previous reports from the United States.