bluuebunny/crossref_metadata_2025_split huggingface dataset:
Radiological findings in Hallermann–Streiff syndrome: Report of five cases and a review of the literature
Authors: Christian Cathy L. , Lachman Ralph S. , Aylsworth Arthur S. , Fujimoto Atsuko , Gorlin Robert J. , Lipson Mark H. , Graham John M. 
Published: June 2005

AbstractHallermann‐Streiff syndrome (HSS) is a rare disorder with an associated constellation of radiological findings that may aid in the diagnosis of affected individuals. We reviewed the skeletal surveys of 5 affected individuals and noted some characteristic and constant findings. Radiological findings can include a large, poorly ossified skull with decreased ossification in the sutural areas. There was an increase in the number of Wormian bones. Severe mid‐facial hypoplasia was present along with a prominent nasal bone. The skull films also showed an abnormally obtuse or nearly straight gonial angle. The teeth appeared small. The long bones were thin and gracile in appearance and often showed poor demarcation of the cortex from the medullary portion. Abnormal bowing of the radius and ulna was seen neonatally in 2 cases. There was widening at the metaphyseal ends of the long bones. The ribs were thin, but normal in length. The vertebral bodies were noted to be small and 3 cases had platyspondyly. There was a decreased number of sternal ossification enters. The metacarpals were also thin and gracile in appearance with metaphyseal widening. We conclude that these characteristic radiological findings in the newborn with HSS can aid in the diagnosis, and a skeletal survey in suspected individuals may be valuable in confirming the diagnosis.
Hallermann–Streiff syndrome: Clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
Authors: Spaepen Ann , Schrander‐Stumpel Constance , Fryns Jean‐Pierre , De Die‐Smulders Christine , Borghgraef Martine , Van Den Berghe Herman 
Published: June 2005

AbstractWe describe 3 young children with Hallermann–Streiff syndrome, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a cleft palate and with complete syndactyly of fingers IV and V. The latter case represents overlap of the Hallermann–Streiff syndrome and oculodentodigital dysplasia. “Dwarfism” as a possible clinical risk marker of mental retardation is discussed. As cause, a mendelian autosomal dominant mutation seems most probable.
On lumping and splitting: A fetus with clinical findings of the oral‐facial‐digital syndrome type VI, the hydrolethalus syndrome, and the Pallister‐Hall syndrome
Authors: Muenke Maximilian , Ruchelli Eduardo D. , Rorke Lucy B. , McDonald‐McGinn Donna M. , Orlow Michael K. , Isaacs Ann , Craparo Frank J. , Dunn Linda K. , Zackai Elaine H. 
Published: June 2005

AbstractThe three midline malformation complexes, the oral‐facial‐digital syndrome type VI (OFDS VI) or Váradi syndrome, the hydrolethalus syndrome (HS), and the Pallister‐Hall syndrome (PHS) have been described as distinct genetic entities. Here, we report a fetus with a combination of clinical findings of all 3 syndromes similar to the twin fetuses described in the accompanying paper (Hingorani et al., 1991). The phenotypic overlap in these fetuses with the OFDS VI, HS, and PHS raises the question as to whether or not they indeed represent separate genetic entities as previously assumed.
GMS syndrome: A new dominant condition with goniodysgenesis, mental retardation, and short stature
Authors: Kupchik Gabriel S. , Ludman Mark D. , Raab Edward L. , Gilbert Fred 
Published: June 2005

AbstractWe describe a mother and daughter with a distinct phenotype that is different from previous reports. This is likely to constitute a new syndrome for which we propose the mnemonic GMS for G goniodysgenesis, M mental deficiency, and S short stature.The pattern of occurrence is compatible with either autosomal dominant or X‐linked inheritance.
Deletion of the proximal short arm of chromosome 8
Authors: Stratton Robert F. , Crudo David F. , Varela Maria , Shapira Emmanuel 
Published: June 2005

AbstractWe report on a 5‐month‐old boy with a de novo interstitial deletion of the proximal short arm of chromosome 8 (p21p11.2). He manifested bilateral cleft lip and palate, and apparent hypogonadism. Four previous case reports with similar deletions (p11.1p21) were associated with hypogonadotropic hypogonadism [Beighle et al., Hum Genet 38:113–121, 1977] and hereditary spherocytosis (HS) [Chilcote et al., Blood 6:156–159, 1987; Kitatani et al., Hum Genet 78:94–95, 1988; Lux et al., Nature 345:736–739, 1990]. Our patient has no demonstrable red blood cell abnormality, suggesting that the gene for HS is located in the region 8p11.1 to 8p11.2.
Cockayne syndrome: Review of 140 cases
Authors: Nance Martha A. , Berry Susan A. 
Published: June 2005

AbstractTo define diagnostic criteria for Cockayne Syndrome (CS) and to identify in detail the complications of the condition, a comprehensive review of 140 cases of CS was performed. Criteria required for the diagnosis include poor growth and neurologic abnormality; other very common manifestations include sensorineural hearing loss, cataracts, pigmentary retinopathy, cutaneous photosensitivity, and dental caries. The mean age of death in reported cases is 123/12 years, though a few affected individuals have lived into their late teens and twenties. Prenatal growth failure, congenital structural eye anomalies, severe neurologic dysfunction from birth, and the presence of cataracts within the first 3 years of life are predictors of severe disease and early death. In contrast with other disorders of chromosome or DNA repair, cancer has never been reported in a classical CS patient, and there appears to be no predisposition to infectious complications. The wide spectrum of symptoms and severity of the disease suggest that biochemical and genetic heterogeneity exist. CS is an uncommon but devastating genetic condition which will be better understood as the biochemical interrelationships between DNA replication and repair, and between growth, homeostasis, and oncogenesis are unraveled.
Agonadism in a 46,XY patient with CHARGE association
Authors: Kushnick Theodore , Wiley John E. , Palmer Shane M. 
Published: June 2005

AbstractWe report on an infant girl born with findings of CHARGE association who proved to be a genetic male (46, XY) on cytogenetic study. Further investigation of the genitalia demonstrated partially female internal organs but absence of gonads by ultrasonography, hormone studies, and absence of ZFY by DNA probe of Yp. Pelvic exploration confirmed lack of gonadal tissue and uterus. Facial phenotype was compatible with CHARGE appearance.
46,XX pure gonadal dysgenesis with growth hormone deficiency and impaired 3β‐hydroxysteroid dehydrogenase activity
Authors: Sills Irene N. , Rapaport Robert , Skuza Kathryn A. , Horlick Mary N. B. 
Published: June 2005

AbstractPatients with 46,XX pure gonadal dysgenesis generally are of normal stature and have less than usual amounts of pubic and axillary hair. We report on a patient who presented at age 11.9 years with short stature, absence of breast development, and excessive pubic hair. Her karyotype in leukocytes, fibroblasts, and streak gonad was 46,XX. The patient was diagnosed as having growth hormone deficiency. Elevated ACTH stimulated levels of 17‐hydroxypregnenolone and dehydroepiandrosterone and elevated ACTH stimulated ratio of 17‐hydroxypregnenolone to 17‐hydroxyprogesterone suggested inadequate adrenal 3β‐hydroxysteroid dehydrogenase activity. Treatment with growth hormone resulted in improvement in growth velocity and replacement with estrogen in feminization. We suggest that the finding of short stature in patients with 46, XX pure gonadal dysgenesis should not be attributed to the syndrome, but rather requires investigation for possible growth hormone deficiency. The poor growth of our patient prior to growth hormone replacement implies that dehydroepiandrosterone, unlike testosterone and estrogen, is ineffective in promoting linear growth in the absence of adequate growth hormone.
Phenotypically dissimilar hypophosphatasia in two sibships
Authors: Macfarlane J. D. , Kroon H. M. , van der Harten J. J. 
Published: June 2005

AbstractAutosomal dominant and autosomal recessive forms of hypophosphatasia have been reported; generally the clinical picture runs true to form in families. In each of 2 kindreds, 2 sibs were clinically affected by hypophosphatasia to a markedly different extent. One set of sibs showed the lethal (perinatal) and infantile forms. The other showed the dental and adult forms. In both families there was consanguinity, albeit distant, and clinical expression in sibs supporting autosomal recessive inheritance.
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings
Authors: Corsello Giovanni , Maresi Emiliano , Rossi Cinzia , Giuffrè Liborio , Cittadini Ettore 
Published: June 2005

AbstractWe present male monozygotic twins with thanatophoric dysplasia (TD) type I concordant for long bone abnormalities and discordant for cloverleaf skull. The twins were the product of the second pregnancy of unrelated parents, with advanced paternal age. Prenatal diagnosis and postmortem examination showed severe rhizomelic shortness of limbs, bowing of the long bones with “telephone‐receiver” femora in both twins, and cloverleaf skull and hydrocephalus in one of them. It is now accepted that most of cases of TD, such as in the present report, represent an autosomal dominant mutation with a high new mutations rate.
Effect of heterogeneity and assumed mode of inheritance on lod scores
Authors: Durner Martina , Greenberg David A. 
Published: June 2005

AbstractHeterogeneity is a major factor in many common, complex diseases and can confound linkage analysis. Using computer‐simulated heterogeneous data we tested what effect unlinked families have on a linkage analysis when heterogeneity is not taken into account. We created 60 data sets of 40 nuclear families each with different proportions of linked and unlinked families and with different modes of inheritance. The ascertainment probability was 0.05, the disease had a penetrance of 0.6, and the recombination fraction for the linked families was zero. For the analysis we used a variety of assumed modes of inheritance and penetrances. Under these conditions we looked at the effect of the unlinked families on the lod score, the evaluation of the mode of inheritance, and the estimate of penetrance and of the recombination fraction in the linked families.
When the analysis was done under the correct mode of inheritance for the linked families, we found that the mode of inheritance of the unlinked families had minimal influence on the highest maximum lod score (MMLS) (i.e., we maximized the maximum lod score with respect to penetrance). Adding sporadic families decreased the MMLS less than adding recessive or dominant unlinked families.
The mixtures of dominant linked families with unlinked families always led to a higher MMLS when analyzed under the correct (dominant) mode of inheritance than when analyzed under the incorrect mode of inheritance. In the mixtures with recessive linked families, assuming the correct mode of inheritance generally led to a higher MMLS, but we observed broad variation.
The estimate of the recombination fraction became larger as the proportion of recessive or dominant unlinked families increased, but, in general, sporadic families had less influence on the estimate of the recombination fraction than did unlinked families with genetic disease.
The assumed penetrance that led to the highest maximum lod score occurred close to the value which was used to generate the data. There was more variation as the proportion of linked families in the data sets decreased.
Congenital synspondylism
Authors: Wiles Catherine R. , Taylor Thomas F. K. , Sillence David O. 
Published: June 2005

AbstractWe present 3 patients with a specific pattern of congenital familial extensive vertebral anomalies (CFEVA) with vertebral and carpal coalition. It is proposed that these patients and two previously reported cases have a vertebral disorder akin to symphalangism in the fingers. The name synspondylism is proposed. Two instances of sib recurrence point to Mendelian segregation in some instances of synspondylism. The syndromes and associations encompassed by CEFVA are reviewed. The clinical and radiographic manifestations of congenital synspondylism are discussed in the perspective of the possible pathogenesis of segmentation disorders of the spine.
Trisomy 16p in a liveborn infant and review of trisomy 16p
Authors: O'Connor Timothy A. , Higgins Rodney R. 
Published: June 2005

AbstractWe report on an infant boy with duplication of part of 16p and partial deficiency of 9p:46.XY, −9, + der(9)t(9;16)(p24;p13.1)mat. The child has the typical phenotype of dup(16p) even though the extra piece of 16p is small (16pl3.1→pter). Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, cleft soft palate, a thin vermilion border of the upper lip, and left renal dysgenesis. We review 16p duplications.
Autosomal dominant inheritance of Klein–Waardenburg syndrome
Authors: Sheffer Ruth , Zlotogora Joel 
Published: June 2005

AbstractWe report on 2 sibs with the Klein–Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The children's father and paternal aunt are also affected. This report confirms that the Klein–Waardenburg syndrome is an autosomal dominant syndrome.
Duplication of distal 19q: Clinical report and review
Authors: Boyd Ellen , Grass Frank S. , Parke James C. , Knutson Kam , Stevenson Roger E. 
Published: June 2005

AbstractWe report on a 20‐month‐old boy with duplication of the distal part of 19q. His karyotype is 46, XY, −22, + der(22), t(19;22) (q13.3; p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation, and growth impairment. These characteristics are similar to those in the other 10 reported cases of distal 19q duplication and help delineate the phenotype. A review of the literature is presented.
Syndrome of microcephaly, Brachmann–de Lange‐like facial changes, severe metatarsus adductus, and developmental delay: Mild Brachmann‐de Lange syndrome?
Authors: Halal Fahed , Silver Kenneth 
Published: June 2005

AbstractWe report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann–de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.
Unique karyotypes in two patients with Prader‐Willi syndrome
Authors: Narahara Kouji , Hiramoto Kei , Murakami Masae , Miyake Susumu , Tsuji Kazushiro , Yokoyama Yuji , Namba Hiroshi , Ninomiya Shinsuke , Murakami Ryuko , Seino Yoshiki 
Published: June 2005

AbstractA physical disruption of the Prader‐Willi syndrome (PWS) chromosome region is thought to cause PWS. We describe 2 girls with PWS phenotype, who had unique chromosome 15 abnormalities. The first patient showed mosaicism: 45,XX,t(15;15)(qter→p11.1::q11.200→ qter)/46,XX,t(15;15)(qter → p11.1::q11.200→ qter), + mar. The band 15q11.2 apparently remained intact in the t(15;15) chromosome, and the mar chromosome was considered as r(15) (p11.1q11.1). The second patient had a karyo‐type of 47,XX,del(15)(q11.200→q11.207), + idic (15)(pter → q11.1::q11.1→pter). The complex breakage and reunion involving the 15q11.2 regions of the father's homologous chromosomes 15 at meiosis appeared to have resulted in the idic(15) and the del(15) chromosomes. These cytogenetic findings suggest that the PWS chromosome region may be localized on the very proximal portion of band 15q11.2.
Interstitial deletion 8p21.3 → p23.1 in a 6‐year‐old girl
Authors: Morrison Patrick J. , Jones June , Nevin Norman C. 
Published: June 2005

AbstractWe present a 6‐year‐old mentally retarded girl. Chromosome analysis showed an interstitial deletion of chromosome 8; 46,XX,del(8) (pter → p23.1::p21.3 → qter). The proposita had normal activities of glutathione synthetase reductase (GSR) and factor VII. Parental chromosomes were normal.
β‐glucuronidase deficiency as a cause of fetal hydrops
Authors: Kagie M. J. , Kleijer W. J. , Huijmans J. G. M. , Maaswinkel‐Mooy P. , Kanhai H. H. H. 
Published: June 2005

AbstractMucopolysaccharidosis type VII (MPS VII) was diagnosed in a case of severe fetal hydrops. β‐glucuronidase deficiency was demonstrated in the amniotic fluid, which was obtanined at 25 weeks of gestation, and in the fibroblasts of the child, which were cultured atter fetal death in the 26th week of gestation. In the amniotic fluid the two‐dimensional eletrophoresis pattern of glycosaminoglycans was in agreement with MPS VII. Based on these results, prenatal diagnosis could be offered to the couple for the next pregnancy.
Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)
Authors: Telvi Louise , Folhen Martine , Raoul Odile , Feingold Josué , Ponsot Gérard , Pompidou Alain , Rethoré Marie O. , Lejeune Jérǒme 
Published: June 2005

AbstractA male infant with static antenatal encephalopathy and epilepsy was found to have a duplication of 5p12→5pter and deficiency of 10p13→10pter. Each of his parents was a carrier of a balanced reciprocal translocation. A third translocation was found in the maternal grandfather. The pedigree of each translocation and the segregation of parental reciprocal translocations are discussed.
Dwarfism, rhizomelic limb shortness, and abnormal face: New short stature syndrome sharing some manifestations with Robinow syndrome
Authors: Turnpenny Peter D. , Thwaites Richard J. 
Published: June 2005

AbstractWe describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face. She had frontal balding, mid‐face hypoplasia, a small nose, macrostomia with down‐turned corners of the mouth, gingival hypertrophy, and hypoplasia or absence of the clitoris. There was no gross modelling defect of the skeleton and the vertebral column was normal. Some of these manifestations overlap with those of Robinow syndrome.
Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis
Authors: Semmekrot Ben A. , Haraldsson Asgeir , Weemaes Corry M. R. , Smeets Dominique F. C. M. , Geven Wil B. , Brunner Han G. 
Published: June 2005

AbstractA patient is described who presented with severe congenital anemia, hydrops fetalis, immune disorder, and absent thumbs. No toxic, infectious, or metabolic cause was found to explain these symptoms. Immunologic and cytogenetic studies excluded several syndromes that combine radial ray anomalies with hematological involvement. After careful study of the literature, it is concluded that the disorder described here represents a new syndrome that can be added to a growing list of hematological‐radial syndromes.
Prenatal diagnosis of the Pallister‐Killian mosaic aneuploidy syndrome by CVS
Authors: Bernert Jürgen , Bartels Iris , Gatz Gudrun , Hansmann Ingo , Heyat Martina , Niedmann Paul D. , Rehder Helga , Waldenmaier Claus , Zoll Barbara 
Published: June 2005

AbstractPrenatal cytogenetic analysis at 11 weeks of gestation revealed an abnormal karyotype 47, XX, + mar in all metaphases obtained from a chorionic villi sample after 24 h culture. Karyotyping of amniotic fluid cells in the second trimester showed mosaicism 47, XX, + i(12p)/46,XX with 10% aneuploid cells. The pregnancy was terminated at 20 weeks of gestation on the patient's request. The aborted fetus showed typical manifestations of the Pallister‐Killian mosaic aneuploidy syndrome. The identity of the supernumerary isochromosome 12p was proven by LDH isozyme electrophoresis using cultured fibro‐blasts and by nonradioactive in situ hybridization using a biotinylated set of chromosome 12‐specific DNA probes.
Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma
Authors: Stambolian Dwight , Sellinger Beatrice , Derrington Dennis , Sargent Robert , Emanuel Beverly S. 
Published: June 2005

AbstractWe report on a 4‐year‐old girl with retinoblastoma and de novo balanced translocation [46,X,t (X;13) (q23;q13)]. Unilateral retinoblastoma was discovered at age 9 months along with developmental delay and several manifestations of Turner syndrome. Chromosome studies showed an X/13 translocation and an X inactivation pattern showing the translocated X chromosome active in all 50 cells examined. Standard Southern blot analysis and pulsed field gel electrophoresis using a 3.8 kb EcoR1 fragment of the cDNA probe to the 3′ end of the RB1 locus demonstrated a normal genomic pattern. The results of the cytogenetic and molecular analysis suggests that the RB1 locus has not been disrupted by the chromosome rearrangement. This case is the fifth report of an X/13 translocation associated with a retinoblastoma.
The second report of Knobloch syndrome
Authors: Czeizel A. E. , Göblyös P. , Kustos G. , Mester E. , Paraicz E. 
Published: June 2005

AbstractTwo sibs affected with Knobloch syndrome comprising severe visual handicap (high myopia and retinal detachment with other defects), atypical occipital cephalocele, and unusual plantar creases are described.
Autosomal dominant congenital laryngomalacia
Authors: Shohat Mordechai , Sivan Yakov , Taub Ellen , Davidson Shmuel 
Published: June 2005

AbstractA family is presented in which congenital stridor due to laryngomalacia was evident in 9 individuals through 3 generations. This report confirms the autosomal dominant transmission of at least one type of laryngomalacia.
Tissue specificity and stability of mosaicism in Pallister–Killian +i(12p) syndrome: Relevance for prenatal diagnosis
Authors: Priest Jean H. , Rust Jean M. , Fernhoff Paul M. 
Published: June 2005

AbstractWe ascertained +i(12p) mosaicism during third trimester in a case of polyhydramnios and diaphragmatic hernia. Primary cultures of amniocytes had colonies with +i(12p), colonies without +i(12p), and mixed colonies with 46/47, +i(12p). The likely explanation was instability and loss of i(12p) during somatic divisions of amniocytes. Fetal blood in third trimester retained +i(12p) in 13% of cells. A review of mosaicism in published cases indicates that factors influencing the presence of +i(12p) include tissue type and in vitro and in vivo age. In blood, amniocyte, and probably bone marrow cultures, +i(12p) is less stable than in fibroblast‐like cultures derived from skin and other tissues. Young cultures at early passage are more likely to have +i(12p) than old cultures. Cultures from young (especially fetal) donors are more likely to retain +i(12p) than cultures from adult donors. These rules will be important in determining appropriate tissues for diagnosis and interpretation of mosaicism in this disorder.
Survival of fetuses with 45,X: An instructive case and an hypothesis
Authors: Kelly Thaddeus E. , Ferguson James E. , Golden Wendy 
Published: June 2005

AbstractThe high (> 95%) fetal loss rate of 45,X embryos and fetuses has led to the suggestion that fetal survival with this karyotype requires the presence of mosaicism. However, in many instances, even given a “mild Ullrich‐Turner syndrome” phenotype, mosaicism is not detected. In a pregnancy studied for advanced maternal age, CVS cultured cells showed 65% 45,X and 35% 46,X,r(X). After termination, 2 fetal tissues showed 95% 45,X cells. It is suggested that infants with the 45,X karyotype likely had mosaicism for a structurally abnormal X or Y chromosome during embryogenesis, but the abnormal cell line disappeared prior to birth.