bluuebunny/crossref_metadata_2025_split huggingface dataset:
Limb‐body wall complex: II. Limb and spine defects
Authors: Van Allen M. I. , Curry C. , Walden C. E. , Gallagher L. , Patten R. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractLimb defects from 25 fetuses with limb‐body wall (LBW) complex were evaluated to determine the mechanism of limb damage. The limb defects could be divided into 3 pathogenetic groups: (1) secondary to disruption of embryonic vessels and surrounding tissue (84%), (2) secondary to amniotic bands or adhesions (16%), and (3) deformation versus hemorrhage (44% with club feet), with some fetuses having more than one pathogenetic mechanism causing limb defects. The hypothesis that the majority of limb defects resulted from disruption of embryonic vessels was supported by the following findings: 96% of the LBW complex fetuses had limb defects; the lower limbs were at greater risk of damage than the upper limbs (28% rt arm, 52% 1t arm, 60% rt leg, 72% lt leg); there was a distal to proximal progression of limb damage in 92% of the fetuses; statistical analysis of comparing the location of the most severe limb defect and the body wall defect did not find concordance between the side (p = l.0) and the region (p = 0.18) of the body wall defect; and limb defects found in the human specimens were similar to those produced in experimental animals following disruption of embryonic vessels at a corresponding gestation. In the specimens with amniotic band related limb defects (16%), the most likely pathogenesis is mechanical rupture through the amnion in the presence of a persistent extraembryonic coelom or from adhesion of the amnion to necrotic embryonic tissue after the initial disruptive event. Club feet were present in 44% and may be due either to disruption of embryonic vessels or to deformation. Further studies are needed to resolve this question.
New autosomal dominant syndrome resembling craniofrontonasal dysplasia
Authors: Teebi Ahmad S. , Reynolds James F. 
Published: June 2005

AbstractCraniofrontonasal dysplasia, a distinct malformation syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities—in particular, brittle nails with prominent longitudinal grooves or Splitting. There is marked female preponderance and variable expressivity not only between males and females but also between females. However, mode of inheritance is still unclear. We describe a large Arab kindred with 16 individuals (9 males, 7 females) in 4 generations having an apparently new autosomal dominant syndrome with features of Craniofrontonasal dysplasia but with normal or slightly broad nasal tip and without evidence of craniosynostosis or nail abnormalities. These cases were segregating in 5 sibships and include male to male transmission with full expression in males and females. Chromosomes of the proposita and her father were normal. Aarskog syndrome has been also considered in the differential diagnosis and was excluded.
Prenatal diagnosis of retinal detachment in Walker‐Warburg syndrome
Authors: Farrell S. A. , Toi A. , Leadman M. L. , Davidson R. G. , Caco C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractLissencephaly, hydrocephalus, and eye abnormalities characterize patients with the Walker‐Warburg syndrome, an uncommon autosomal recessive condition. Encephaloceles occur in about 50% of patients. We describe the prenatal diagnosis of this condition based on the ultrasonographic findings of retinal detachment, hydrocephalus, and an encephalocele in a fetus not known to be at risk.
Unique skeletal dysplasia with absence of the distal ulnae
Authors: Goldblatt J. , Behari D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an Indian woman with a severe shortness of stature, absence of the distal ulnae, and a predominantly spondylometaphyseal skeletal dysplasia. The clinicoradiographic changes in this patient appear to represent a unique skeletal disorder.
Familial ossicular malformations: Case report and review of literature
Authors: Higashi Koichiro , Yamakawa Koji , Itani Osamu , Togawa Kiyoshi , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractFamilial middle ear ossicular anomalies are rare. We report on a daughter and her mother with congenital conductive hearing loss. Tympanotomy disclosed hypoplasia of long crus of incus whose tip had been replaced with a fibrous strand.A review suggests that middle ear ossicular anomalies may be inherited as autosomal dominant traits. Most individuals were bilaterally affected. Most isolated cases were affected unilaterally.
Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2
Authors: Schmidt Michael A. , Michels Virginia V. , Dewald Gordon W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a family in which a mother and her 2 children each had von Recklinghausen neurofibromatosis and a balanced chromosome rearrangement t(1;17)(p34.3;qll.2). In addition, we describe another unrelated patient with neurofibromatosis and a presumed secondary myelodysplastic syndrome in which the bone marrow contained an abnormal clone with an unbalanced rearrangement involving a breakpoint in band 17qll.2. These findings may suggest that the neurofibromatosis gene is located in or near band 17qll.2. This information supports the studies which assign the neurofibromatosis gene to a region of chromosome 17 between the proximal p arm and band q22 on the long arm.
Sister chromatid exchange analysis in the Prader‐Labhart‐Willi syndrome
Authors: Butler Merlin G. , Jenkins Bonnie B. , Opitz John M. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractThe number of sister chromatid exchanges (SCE) and cell kinetics in lymphocytes were investigated from 16 Prader‐Lab‐hart‐Willi syndrome (PLWS) patients [8 with 15ql2 deletion (4 females, 4 males; x age = 12.9y with age range of 0.3 to 24y), and 8 non‐deletion (2 females, 6 males; x age = 16.8y with age range of 5 to 26y)], 18 parents of PLWS patients and age‐matched control individuals. The average SCE frequency and standard deviation in PLWS patients with and without the chromosome 15 deletion was 6.6 ± 1.3 and 6.2 ± 0.8, respectively. Therefore no significant difference in SCE frequency or replicative index was found between the two PLWS subgroups. There was also no significant difference in SCE frequency or replicative index between the 16 PLWS patients and age‐matched control subjects. The average SCE frequency and standard deviation in 8 fathers who were previously identified to have donated the chromosome 15 with the deletion in the child was 7.5 ± 1.2, which was not significantly different from 8.5 ± 2.0 seen in age‐matched control subjects. There was also no significant difference in the SCE frequency or replicative index of 18 parents of PLWS patients with and without the chromosome 15 deletion when compared with age‐matched control subjects.
Is angelman syndrome an alternate result of del(15)(qllql3)?
Authors: Magenis R. Ellen , Brown Michael G. , Lacy Deborah A. , Budden Sarojini , LaFranchi Stephen , Opitz John M. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractTwo unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia‐like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients.Re‐evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader‐Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism.The similarity of these girls and dissimilarity to Prader‐Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic‐like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.
Steroid metabolic disturbances in Prader‐Willi syndrome
Authors: Chasalow Fred I. , Blethen Sandra L. , Tobash Judith G. , Myles Darlene , Butler Merlin G. , Opitz John M. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractWe have studied steroid sulfate conjugates in serum samples from 17 children with Prader‐Willi syndrome (PWS) by extraction, enzymatic hydrolysis and chromatography of the hydrolysed, free steroids. The chromatograms in patients with PWS can be divided into 2 classes. Ten (A with the deletion on chromosome 15 and 6 without) of 17 had a normal pattern with dehydroepiandrosterone (DHEA) as the only steroid detected. However, 7 out of 17 (3 with the deletion and 4 without) had a very different pattern. The chromatogram derived from these hydrolysates had 5 major peaks. One of these was DHEA; a second peak was tentatively identified as 16α‐hydroxy‐DHEA on the basis of column retention time and immunoreactivity. The remaining 3, more polar, compounds have not yet been identified. The presence of unusual steroid sulfo‐conjugates in serum may correlate with other features of PWS and may be the basis for dividing PWS into two separate disease states: a) PWS‐1 associated with DHEA‐S as the only sulfo‐conjugate and b) PWS‐2 associated with unusual sulfo‐conjugates. One interesting possiblitiy is that these sulfo‐conjugates may have a hormonal function, even though no function has yet been recognized for DHEA‐S. Then, PWS may be the common clinical manifestation of a variety of different defects in the sulfo‐conjugate metabolic pathway.
Emotional symptoms in Prader‐Willi syndrome adolescents
Authors: Whitman Barbara Y. , Accardo Pasquale , Opitz John M. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractClinical observations and parental reports on the behavior of Prader‐Willi syndrome (PWS) patients suggest the development of a wide variety of psychiatric disorders as the PWS child enters adolescence. Documentation of these emotional disorders remains unsystematic. Here we describe the results of administering the Survey Diagnostic Instrument (SDI) to the parents of 35 PWS adolescents. The questionnaire data were supplemented by additional selected demographic and clinical data. The SDI is a 134 item questionnaire filled out by one parent. It screens for the DSM‐III criterion‐based diagnostic categories of neurosis (dysphoric, compulsive, anxious), somatization, conduct disorder (antisocial, violent), and hyperactivity. The following diagnostic pattern resulted: neurosis, dysphoric, (1 probable); neurosis, compulsive, 3 (6 probable); neurosis, anxious, 4 (and 10 probable); somatization, 0; conduct disorder, violent 0; conduct disorder, antisocial, 0; hyperactivity, 1 (and 1 probable). An odds ratio algorithm is used to uncover possible predisposing factors, and the results are discussed in the context of organic versus psychiatric causes.
Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers
Authors: Vici Carlo Dionisi , Sabetta Gaetano , Gambarara Manuela , Vigevano Federico , Bertini Enrico , Boldrini Renata , Parisi Saverio Giuseppe , Quinti Isabella , Aiuti Fernando , Fiorilli Massimo , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The clinical history of both patients was characterized by severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. The children died of bronchopneumonia at age 2 and 3 years, respectively. Immunological investigations showed, in one sib studied, skin anergy to recall antigens, profound depletion of T4+ lymphocytes, and serum IgG2 deficiency. Necropsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue.The distinctive features of these sibs appear to define a previously undescribed hereditarty MCA/MR syndrome. The clinical and pathological findings seem to indicate, as a pathogenetic mechanism, a defect involving the embryonic organization of the central nervous system and of the immune system.
Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis
Authors: Magenis R. E. , Sheehy R. R. , Brown M. G. , McDermid H. E. , White B. N. , Zonana J. , Weleber R. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo individuals, a boy and girl, with a clinical diagnosis of cat eye syndrome had an extra bisatellited chromosome. In the girl, the diagnosis was made on the basis of coloboma of the right iris, right preauricular pit, and imperforate anus; in the boy, bilateral colobomata of the iris, down‐slanting palpebral fissures, right preauricular skin tag, and right preauricular pit. Multiple staining techniques were used to characterize the extra chromosomes. With G‐banding the extra chromosome usually appeared monocentric with two major G‐positive bands, but with satellites on both ends; with C‐banding, two C‐band positive regions were evident, indicating that the chromosomes were likely dicentric. Silver staining demonstrated the presence of NORs near each end; Q‐banding showed satellites on each end, differing in brightness and size. The chromosomes of the parents were normal; comparisons of Q‐band heteromorphisms of the acrocentric chromosomes of the parents with those of the extra chromosome showed in each case one short arm/satellite region of the extra chromosome identical in appearance to one chromosome 22 of the mother and the other end of the extra bisatellited chromosome identical to the short arm/satellite of the mother's second chromosome 22. This extra chromosome, then, is the result of a maternal meiotic error in each case. In situ hybridization studies using the chromosome 22–derived probe p22/34, which identifies locus D22S9, showed 16% of the cells from the female patient to have silver grains on the proximal long arm of the normal chromosome 22 and 14% on the extra chromosome, while 10% of cells from the male had grains on the normal chromosomes 22 and an equal number on the extra chromosome, confirming the chromosome 22 origin of the extra chromosome in these patients.
A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux
Authors: Leung Alexander K. C. , Rudd Noreen L. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present a male infant with r(9) and del(9p) mosaicism and chromosome constitution of 46,XY,r(9)(p22;q34)/46,XY,del(9) (p22). This patient also had gastroesophageal reflux with persistent regurgitation and resultant failure to thrive. The association of this syndrome with gastroesophageal reflux is emphasized.
Prenatal sonographic diagnosis of Pena‐Shokeir syndrome type I, or fetal akinesia deformation sequence
Authors: Ohlsson Arne , Fong Katherine W. , Rose Toby H. , Moore Donald C. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a familial case of Pena‐Shokeir syndrome type I (fetal akinesia deformation sequence) born to healthy parents. The antenatal ultrasound diagnosis was based on hydramnios, restricted limb movements, decreased fetal chest movements, small chest, arthrogryposis, clubfoot, fixed extension of knees, fixed flexion of elbows, camptodactyly, kyphosis of thoracic spine, cryptorchidism, and small muscle bulk. Thymic hyperplasia was noted at autopsy.
Fetal akinesia deformation sequence in previable fetuses
Authors: Davis Jennifer E. , Kalousek Dagmar K. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe reviewed the morphologic findings of 948 previable fetuses and identified the fetal akinesia deformation sequence (FADS) in 16 cases. In eight fetuses who had joint contractures, micrognathia, and pulmonary hypoplasia, the cause of fetal akinesia could be attributed to an abnormal intrauterine environment restricting fetal movement. The other eight fetuses had pterygia across the immobilized joints, in addition to main manifestations of FADS. Since most of the fetuses with pterygia were of only 8–9 weeks developmental age, we suggest that embryonic onset of immobility interferes with limb development and results in joint fixation and pterygium formation, in contrast to fetal‐onset immobility, which causes joint contractures alone.
A new acro‐cranio‐facial dysostosis syndrome in sisters
Authors: Kaplan Paige , Plauchu Henri , Fitch Naomi , Jéquier Sigrid , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down‐slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum.Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular “dysplasia,” and coxa valga.Autosomal recessive inheritence is suggested.
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears
Authors: Hurst J. A. , Winter R. M. , Baraitser M. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data‐base.
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome
Authors: Rollnick B. R. , Hoo J. J. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractHere we report on 13 individuals with the EEC syndrome from a single craniofacial clinic population. Eight of 13 underwent genitourinary (GU) evaluation; all had abnormal findings. Seven had anomalies of the urinary tract, and 3 had genital anomalies. To our knowldege, this is the first report of GU evaluation of the majority of EEC patients from a single clinic population. Results support the suggestion that GU anomalies are a major component of the EEC syndrome. Genitourinary evaluation of all EEC patients and their first degree relatives seems indicated. The abnormal findings observed to date suggest variable expression of an autosomal dominant gene.
Metacarpophalangeal pattern profile analysis in sotos syndrome: A follow‐up report on 34 subjects
Authors: Butler Merlin G. , Dijkstra Piet F. , Meaney F. John , Gale David D. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractMetacarpophlangeal pattern profile (MCPP) was determined on 34 Sotos syndrome individuals and compared with previous MCPP studies. The mean hand profile contained a major peak in the proximal phalangeal area and a smaller peak in the metacarpal area, while the distal hand bones were relatively short. There appear to be three recognized hand profiles in Sotos syndrome, which suggests heterogeneity of the syndrome, although correlation studies indicate clinical homogeneity of individuals in the younger age groups. Discriminant analysis of Sotos syndrome versus control subjects produced a function of two MCPP variables, plus age, which may be applied as another diagnostic tool.
Two patients with ring chromosome 15 syndrome
Authors: Butler Merlin G. , Fogo Agnes B. , Fuchs David A. , Collins Francis S. , Dev Viathilingam G. , Phillips John A. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 2 patients (3½ year‐old‐male and 6‐year‐old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café‐au‐lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and parental age at the time of birth was 28 and 31 years, respectively.
The inheritance of intraerythrocytic sodium level
Authors: Hasstedt Sandra J. , Hunt Steven C. , Wu Lily L. , Williams Roger R. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractIntraerythrocytic sodium level (RBC Na) was measured on 1,800 normotensive members of 64 Utah pedigrees ascertained through hypertensive or normotensive probands sibs with early stroke death, or brothers with early coronary disease. Likelihood anaysis provided evidence that RBC Na was determind by four alleles at a single locus. Each allele was reccessive to all alleles associated with a lower mean level. The four resultant distributions occurred in the frequencies; 0.8%, 89.3%, 9.7%, and 0.2% with correspondingg means (mmol/1 RBC) of 4.32, 6.67, 9.06 and 12.19, respectively. The major locus explained 29.0% of the variance in RBC Na; Polygenic inheritance explained another 54.6%. A higher frequency of the genotypes for high RBC Na in pedigrees when the proband was hypertensive than normotesive provided evidence that this major locus increases susceptibility to hypertention.
Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: A possible “new” form of ectodermal dysplasia
Authors: Winter R. M. , Macdermot K. D. , Hill F. J. , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractA family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before.The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial‐like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles.The inheritance pattern is most likely autosomal dominant, although X‐linked dominant inheritance cannot be excluded.
Prenatal diagnosis of chromosome abnormalities in the presence of fetal structural defects
Authors: Wladimiroff Juriy W. , Sachs Eva S. , Reuss Annette , Stewart Patricia A. , Pijpers Leen , Niermeijer Martinus F. , Reynolds James F. 
Published: June 2005

AbstractA chromosomal abnormality was found in 42 (10.9%) out of 386 fetuses with a structural defect. Thirty‐five of these were diagnosed prenatally, following ultrasonic detection of one or more structural anomalies and associated pathology such as marked intrauterine growth retardation and polyhydramnios. Termination of pregnancy was carried out in 16 fetuses aged < 26 weeks, intrauterine and neonatal death occurred in 20 cases, the remaining 6 infants were alive at 3 months.The poor outcome in these pregnancies emphasizes the need for prenatal chromosome analysis in the presence of a fetal structural defect.