bluuebunny/crossref_metadata_2025_split huggingface dataset:
The IVIC syndrome: A new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Authors: Arias Sergio , Penchaszadeh Víctor B. , Pinto‐Cisternas Juan , Larrauri Sorne , Opitz John M. , Opitz John M. 
Published: June 2005

AbstractThe IVIC syndrome is an autosomal dominant condition affecting mainly the upper limbs. It is described from 19 living members of one family of mostly Caucasoid descent; it came to Venezuela from the Canary Islands 140 years ago. The new mutation appeared six generations ago. It has complete penetrance and wide expressivity for a radial ray defect which may vary from an almost normal thumb to a severely malformed upper limb. When present, the thumb has a long/slender metacarpal and a short distal phalanx, reflected in a typical metacarpophalangeal (MP) pattern profile. Anthropometry reveals delayed growth in the forearms, clavicles, and cranium during adolescence, and permanently in the spine; the maturation of the face, tibiae, and feet is normal. The radial carpal bones are always affected, some being still hypoplastic at advanced ages. Constant palmar dermatoglyphic anomalies are a high a‐b ridge count, a distally placed or absent t triradius, and an increased frequency of patterns in the second interdigital area. Extraocular muscles are involved almost always, producing strabismus. Hearing is bilaterally impaired due to a mixed congenital loss, either total or partial. Mild thrombocytopenia and leukocytosis are present before the age of 50 years. There is neither associated ectodermal dysplasia nor heart involvement [except for occasional mild, incomplete right bundle branch block (IRBBB)]; imperforate anus occurs in about 10% of affected persons. The possible pathogenetic relationship to the thalidomide embryopathy and to the Holt‐Oram syndrome, among others, is discussed.
Possible autosomal‐recessive ocular coloboma
Authors: Pagon Roberta A. , Kalina Robert E. , Lechner David J. , Opitz John M. 
Published: June 2005

AbstractOcular coloboma as an isolated anomaly often is inherited as an autosomal dominant trait. Possible autosomal recessive inheritance is suggested by the presence of colobomatous malformations in a brother and sister whose parents have apparently normal eyes. Possible genetic heterogeneity of isolated ocular coloboma makes genetic counseling in sporadic cases difficult since cases may be due to autosomal dominant and autosomal recessive mutations and non‐genetic causes.
Occurrence of down syndrome and human sexual behavior
Authors: Milstein‐Moscati Iva , Becak Willy , Opitz John M. 
Published: June 2005

AbstractWe analyzed the sexual habits of 80 mothers of normal children and of 33 mothers of children with the Down syndrome (DS). The data were obtained through the psychological interview technique. Unusually long intervals between intercourse at the time of conception were reported more frequently by mothers of DS children. Independent of the mother's age there was an association between the incidence of DS and long intervals between intercourse.
Peripheral motor neuropathy associated with autonomic dysfunction in two sisters: New hereditary syndrome?
Authors: Lisker Rubén , García‐Ramos Guillermo , de la Rosa‐Laris Carlos , Díaz‐Mitoma Francisco , Opitz John M. 
Published: June 2005

AbstractWe describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of several motor nerves was slow, and although no sensory abnormalities were present, sural nerve biopsy revealed severe nonspecific demyelination. No similar patients could be found in the literature and we therefore suggest the possibility that these individuals have a newly recognized hereditary syndrome.
Osteogenesis imperfecta lethal in infancy: Case report and scanning electron microscopic studies of the deciduous teeth
Authors: Levin L. Stefan , Rosenbaum Kenneth N. , Brady John M. , Dorst John P. 
Published: June 2005

AbstractRadiologic evaluation of the skeleton and scanning electron microscopic studies of the teeth were performed on an infant boy with a lethal osteogenesis imperfecta (OI) syndrome who died at 10 mo of pneumonia. The skeletal findings included ribs that were focally expanded by fracture calluses, flat vertebral bodies, and wide limb bones. On fractured tooth surfaces, the enamel and dentin were normal as was the dentin calcification front. Although microscopic abnormalities have been noted in teeth from previously reported infants with lethal OI, a few studies also report infants with normal teeth. These differences in dental findings may indicate heterogeneity in OI lethal in infancy. Results of our study indicate that, until the primary biochemical defects in the OI syndromes are elucidated, examination of teeth from other infants with lethal OI and detailed evaluation of other clinical and skeletal features will aid in delineating heterogeneity and variation in expression in lethal OI.
H‐Y antigen generating and receptor systems in abnormal sexual development
Authors: Moreira‐Filho C. A. , Frota‐Pessoa O. , Vianna‐Morgante Angela M. , Chu T. H. , Bisi H. , Gollop T. R. , Opitz John M. 
Published: June 2005

AbstractThis paper reports data from one case of XY gonadal dysgenesis and one case of XY mixed gonadal dysgenesis. Their H‐Y antigen expression was determined on peripheral blood leukocytes and on gonad‐derived fibroblasts. The former case was found to be H‐Y negative while the latter was H‐Y positive. The origin of these disorders is discussed in terms of mutations affecting the H‐Y antigen generating and receptor systems.
Inheritance of posterior choanal atresia
Authors: Qazi Qutub H. , Kanchanapoomi Rungruang , Beller Eva , Collins Robert 
Published: June 2005

AbstractPosterior choanal atresia (PCA) was observed in a brother and sister and their paternal aunt from a Yemenite family in which several cousin marriages had taken place. Such an occurrence may be compatible with autosomal recessive inheritance. In some cases PCA evidently is an autosomal dominant trait. However, its mostly sporadic occurrence with sex preference suggests that multifactorial determination may play an important role.
The cytogenetic controversy in the Prader‐Labhart‐Willi syndrome
Authors: Kousseff Boris G. 
Published: June 2005

AbstractA patient with Prader‐Labhart‐Willi syndrome (PLWS) was found to have mosaic partial trisomy 15: 46,XY/47,XY,+ del(15) (pter→q1.3:) in both lymphocytes and fibroblasts. Thus, another novel aberration is added to the spectrum of chromosome abnormalities seen in this syndrome. The spectrum includes deletion of the short arm of chromosome 15, interstitial deletion of 15q1.2, inverted duplication of 15p (tetrasomy 15p), partial trisomy 15 different from that encountered in this patient, and a variety of aberrations involving other chromosomes. A hypothesis that the chromosome aberrations are due to a presumed gene for the PLWS may have merit and could be tested in the laboratory by exposing chromosomes of patients with PLWS to mutagens to search for secondary chromosome derangements.
Melnick‐Needles syndrome: Indication for an autosomal recessive form
Authors: ter Haar Ben , Hamel Ben , Hendriks Jan , de Jager Jan , Opitz John M. 
Published: June 2005

AbstractWe describe three patients with bone changes and the facial characteristics of the Melnick‐Needles syndrome (MNS). Associated anomalies (once bilateral glaucoma, twice congenital heart defect) were the reason for referral. The MNS literature also suggests a high frequency of associated anomalies, especially cardiopulmonary malformations. The distribution of the affected relatives, consanguinity of one pair of parents, and absence of similar symptoms in parents and other relatives makes autosomal recessive inheritance of the trait in this family a definite possibility. This is of great importance in genetic counseling, particularly of sporadic cases.
Rh isoimmunization related to amniocentesis
Authors: Murray Jeffrey C. , Karp Laurence E. , Williamson Roger A. , Cheng Edith Y. , Luthy David A. , Opitz John M. 
Published: June 2005

AbstractWe report on the incidence of Rh isoimmunization after genetic amniocentesis at our institution. In 115 Rh negative women who underwent amniocentesis and subsequently delivered Rh positive infants, there were 4 (3.4%) sensitizations before birth. This was significantly greater than the 1.5% rate of gestational sensitization found in pooled populations of women who did not undergo amniocentesis. We also noted a significant increase in the number of sensitizations that occurred before 28 weeks. The results were consistent with those of previous studies of this issue, and are discussed in relation to current policies for managing Rh negative women who have second trimester amniocentesis.
Subsequent reproductive outcome in couples with repeated pregnancy loss
Authors: FitzSimmons Jack , Jackson Douglas , Wapner Ronald , Jackson Laird , Opitz J. M. 
Published: June 2005

AbstractWhile the role of cytogenetic study in couples with repeated pregnancy loss is well‐established, little information is available for counseling these couples concerning future reproductive outcome. Couples evaluated by chromosome analysis for recurrent abortion between 1972 and 1979 were contacted by phone in 1981. Of those studied cytogenetically, 195 couples (50.1%) could be located, and information concerning outcome of subsequent pregnancies were obtained. Couples (91) with two consecutive pregnancy losses at the time of initial investigation had a 31.3% subsequent abortion rate, but most (68%) had at least one liveborn child. The rate of infertility following evaluation was slightly increased (18.7%), but that of prematurity (11.2%) and congentital anomalies (2.5%) was not. In contrast, couples with ≥3 consecutive losses (84) experienced abortion in 45.7% of subsequent pregnancies, and only 54.8% of them eventually had a liveborn child. Again, the rate of infertility was increased (26.2%), but that of prematurity (10%) and congenital defects (3.2%) was not. Nine couples in which one individual was found to have a chromosome abnormality (two inversions and seven translocations) were considered separately. Of these, seven couples had nine liveborn offspring. Amniocentesis was performed in eight cases, with karyotypes showing a balanced translocation identical to that of the parent in 2. All children were phenotypically normal.
Variable patterns of malformation in the mouse fetal hydantoin syndrome
Authors: Finnell Richard H. , Chernoff Gerald F. 
Published: June 2005

AbstractControversy over the existence of a fetal hydantoin syndrome continues in medical literature despite numerous recent clinical studies describing additional patients with a characteristic pattern of abnormalities. Resistance to its acceptance as a clinical entity seems to stem from the variability of the component malformations seen in this syndrome. To examine this variability in a controlled experimental situation, we utilized data obtained in previously reported studies of a mouse model of the fetal hydantoin syndrome.In the mouse, prenatally exposed fetuses had congenital anomalies similar to those observed in the human syndrome. In terms of overall frequency of malformation there were no differences among three inbred mouse strains. However, when considering the individual rates of the 11 most common malformations, considerable differences were noted among the strains. These strain differences in the pattern of malformations appear to be related to genotypic differences in susceptibility to specific malformations. These results provide one possible explanation for the variability observed in the human fetal hydantoin syndrome.
The fetal valproate syndrome
Authors: DiLiberti John H. , Farndon Peter A. , Dennis Nicholas R. , Curry Cynthia J. R. 
Published: June 2005

AbstractWe evaluated seven children who had been exposed to sodium valproate (or valproic acid) in utero. A consistent facial phenotype was observed in all seven in addition to other birth defects in four. The facial changes consisted of epicanthal folds which continued inferiorly and laterally to form a crease or groove just under the orbit, flat nasal bridge, small upturned nose, long upper lip with a relatively shallow philtrum, a thin upper vermillion border, and downturned angles of the mouth. Hypospadias, strabismus, and psychomotor delay were found in two males; two children had nystagmus and two had low birth weight.
Ehlers‐Danlos syndrome IV due to a novel defect in type III procollagen
Authors: Pyeritz Reed E. , Stolle Catherine A. , Parfrey Nollaig A. , Myers Jeanne C. 
Published: June 2005

AbstractEhlers‐Danlos syndrome type IV (EDS IV) is characterized by variable changes in the skin, arterial fragility, bowel perforation, minimal joint involvement, and either autosomal recessive or autosomal dominant inheritance. The unifying biochemical abnormality is a deficiency of type III collagen; all patients studied thus far have shown a defect in either synthesis or in secretion of type III procollagen. We report on an adolescent boy who inherited EDS IV from his father and who developed a spontaneous subclavian artery aneurysm. In vitro studies of collagen production in dermal fibroblasts showed normal amounts of pro α1 (III) messenger RNA and synthesis and secretion of nearly equal amounts of normal and of structurally abnormal pro α1(III) monomers. This patient is biochemically distinct from previous cases of EDS IV and is likely heterozygous for a mutation that results in an aberrant type III procollagen that is particularly susceptible to protease degradation.
Uncomplicated familial hypospadias: Evidence for autosomal recessive inheritance
Authors: Frydman Moshe , Greiber Chaim , Cohen Herman A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractUncomplicated hypospadias was found in eight members of a large, consanguineous Bedouin family. Virilization and fertility were normal in the only postpubertal individual. The inheritance is most likely autosomal recessive and we suggest that in some of the familial cases in which polygenic or multifactorial inheritance was previously proposed, homozygosity for recessive genes may be responsible for the increased risk to siblings. Dominantly transmitted hypertelorism with diastema was an independent and coincidental finding in this family.
Bilateral pulmonary agenesis: Association with the hydrolethalus syndrome and review of the literature from a developmental field perspective
Authors: Toriello Helga V. , Bauserman Stephen C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOnly a few cases of bilateral pulmonary agenesis have been reported. Recently we saw such a case in an infant with the hydrolethalus syndrome. This observation seems to indicate that bilateral pulmonary agenesis is a severe expression of a developmental field defect that usually is represented by abnormal lung lobation or hypoplasia. The previously reported cases are discussed from the perspective of the developmental field concept.
Tetralogy of Fallot with pulmonary atresia in siblings
Authors: Der Kaloustian Vazken M. , Ratl Habib , Malouf Joe , Hatem Joe , Slim Michel , Tomeh Antoine , Khouri Joseph , Kutayli Farid , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first cousins and there is no history of other affected relatives. We suggest that this is a specific, recessively inherited type of tetralogy of Fallot.
Ectopia cordis and cleft sternum: Evidence for mechanical teratogenesis following rupture of the chorion or yolk sac
Authors: Kaplan Lawrence C. , Matsuoka Rumiko , Gilbert Enid F. , Opitz John M. , Kurnit David M. , Reynolds James F. 
Published: June 2005

AbstractWe present case material and a literature survey to document the association between ectopia cordis and band disruption anomalies. The occurrence of thoracic ectopia cordis with a cephalic‐pointing cardiac apex suggests an arrest of cardiac descent at 3 weeks of development, consistent with our finding of ectopia cordis in a 28‐day human embryo. Mechanical compression secondary to rupture of the chorion and/or yolk sac at 3 weeks of gestation would interfere with normal cardiac descent and compress the chest, yielding thoracic and pulmonary hypoplasia. Congenital heart defects associated with ectopia cordis may represent deformations secondary to mechanical distortion of the developing heart following early rupture of the chorion and/or yolk sac. As is illustrated by our clinical specimens, tethering of the heart to periumbilical structures by bands could yield thoracoabdominal ectopia cordis. The milder anomaly of cleft sternum, which is also associated with band disruptions, may occur later in development following rupture of the chorion, yolk sac, or amnion.
Deoxyuridine increases folate‐sensitive fragile site expression in human lymphocytes
Authors: Reidy John A. , Reynolds James F. 
Published: June 2005

AbstractDeoxyuridine (dU) increases chromosome breakage at folic acid (FA)‐sensitive common fragile sites (mostly 3pl4 and 16q23) in human lymphocytes. This dU‐related increase can be suppressed by thymidine or FA. These results suggest that the mechanism of fragile site expression in low FA medium involves misincorporation of dU into DNA.
Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: A large prenatal study
Authors: Hsu Lillian Y. F. , Benn Peter A. , Tannenbaum Hody L. , Perlis Theresa E. , Carlson Ann D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractUsing trypsin Gicmsa banding (GTG), major polymorphisms of the constitutive heterochromatin regions of chromosome 1, 9, 16, and Y were recorded in a New York City population. Polymorphisms were recorded from amniotic fluid specimens received from 6,250 patients from 4 major population groups, ic. White (European)–2,334 cases, American Black–1,795 cases, Hispanic descent–1,737 cases, and Asian (Oriental and Indian)–384 cases.The major chromosomal polymorphisms were classified as follows: obvious pericentric inversion of the constitutive heterochromatin of the long arm of the chromosome (inv qh); significantly enlarged heterochromatic region of the long arm (qh+ is greater than, or equal to, twice the size of the short arm of chromosome 16 [16p]); very small or deficient heterochromatic region in the long arm (qh−); large Y (Yq‐f > size of chromosome 18), small Y (Yq− < size of a G‐group chromosome), and pericentric inversion of Y. Our prenatal study con‐firmed that the incidence of specific chromosomal variants is different in each population group. The most striking examples of this are the pcricentric inversion of chromosome 9 and the different polymorphisms of the Y chromosome. The incidence of inv (9) is highest in the Black population (3.57%); slightly above average in Hispanics (2.42%); and relatively low in Whites (0.73%) and Asians (0.26%). The Y appears to be more variable in Asian (3.37%) and Hispanic (1.82%) than in White or Black groups. The 9qh+ is seen more frequently than lqh +, or 16qh+. Inv (1), 9qh−, and 16qh− are rare. There were no cases of either Iqh− or inv (16). Thus far, we are not aware of any deleterious phenotypic nor clinical effect of these chromosomal polymorphisms nor of any apparent association with fetal wastage.
Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality
Authors: Ionasescu Victor , Patil Shivanand , Hart Michel , Rhead William , Smith Wilbur , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAn abnormality of chromosome 16 in an eight year‐old male was associated with a multiple congenital anomalies syndrome characterized by myopathy, cataracts, blepharophimosis, microcephaly, failure to grow, profound mental retardation, moderate sensorineural hearing loss, grand mal seizures, bilateral inguinal hernia, and thoracolumbar kyphoscoliosis. Magnetic resonance imaging of the head demonstrated absence of the corpus callosum and extensive loss of brain parenchyma in the occipital regions. Chromosome analysis from peripheral blood of the patient showed a rccombinant chromosome 16 [46, XY, rec (16), dup (p13.1 → p13.3) del (q22 → q24)]. The mother had a pericentric inversion of chromosome 16 [46, XX, inv(16) (p13.1;q22)]. Independent recombinant DNA studies have shown that the breakpoints of these chromosomal rearrangements flank the α‐globin gene cluster locus.
Lip pits and deletion 1q32 → 41
Authors: Bocian M. , Walker A. P. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA patient with an interstitial deletion of chromosome lq[del( 1q327 → 41)] was found to have, among other anomalies, congenital lower‐lip pits. Lip pits are rare and are found mainly in association with the van der Woude syndrome and the popliteal pterygium syndrome; we cannot find a report of their association with a chromo‐some anomaly. To our knowledge, interstitial deletion of the segment 1q32 → 41 has not been reported. This observation raises the possibility that the van der Woude syndrome may be due to a submicroscopic deletion of chromosome 1q.
An anthropometric study of 38 individuals with Prader‐Labhart‐Willi syndrome
Authors: Butler Merlin G. , Meaney F. John , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWeight, height, sitting height, and 24 other anthropometric variables (5 body circumferences, skinfolds at 7 sites, 4 head dimensions, and 8 hand and foot measurements) were obtained on 38 Prader‐Labhart‐Willi syndrome (PLWS) individuals (21 with apparent chromosome 15 deletions and 17 nondeletion cases) with an age range of 2 weeks to 38 1/2 years. More than half of these individuals were measured on more than one occasion. The measurements confirmed the presence of short stature, small hands and feet, obesity, and narrow bi‐frontal diameter in PLWS. No differences were found for the anthropometric measurements between the 2 chromosome subgroups. Inverse correlations were produced with linear measurements (eg, height, hand and foot lengths) and age, which indicated a deceleration of linear growth relative to normal individuals with increasing age.
Unilateral carpal bone deformity in mother and son
Authors: Krauss Celeste M. , Herman Thomas E. , Holmes Lewis B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a mother and son with unilateral absence of most of the proximal carpal bones, dysplasia of the distal row of carpal bones, and deformity of the forearm. Although carpal bone dysplasia has been reported in several congenital or progressive disorders, unilateral involvement with lack of progression makes this a distinct entity.
Congenital heart defects in Sotos sequence
Authors: Kaneko Hiroshi , Tsukahara Masato , Tachibana Hidetoshi , Kurashige Hideki , Kuwano Akira , Kajii Tadashi , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOf 10 patients with typical Sotos sequence, 5 had various congenital heart defects. They included 2 patients with secundum atrial septal defect, and one patient each with patent ductus arteriosus with mitral valve regurgitation, tricuspid atresia plus pulmonary atresia and ventricular seplal defect. Increases of head circumference and weight gain were less accelerated in the patients with congenital heart defects than in those without heart defects, while growth in length was comparable between the 2 groups. In view of these findings, it is suggested that the rate of congenital heart defects in patients with Sotos sequence is much higher than that reported in the literature.