bluuebunny/crossref_metadata_2025_split huggingface dataset:
The popliteal pterygium syndrome: Report of a new family and review of the literature
Authors: Hunter Alasdair 
Published: June 2005

AbstractThis paper reports on a family with popliteal pterygium syndrome (PPS), which was ascertained through a baby with most of the major signs of the syndrome. The mother, who had a repaired cleft palate and toe syndactyly, had been aware that her syndactyly was familial, but her unpreparedness for the birth of a child with PPS led to interest in, and a subsequent review of, the differential diagnosis and the variable expression of the clinical manifestations of this syndrome. Upon review, some earlier reported cases were excluded as PPS, and certain ascertainment and reporting biases that could affect such an analysis were considered.
Heterogeneity in the familial aggregation of fasting serum uric acid level in five North American populations: The lipid research clinics family study
Authors: Rice Treva , Vogler George P. , Perry Tammy S. , Laskarzewski Peter M. , Province Michael A. , Rao D. C. 
Published: June 2005

AbstractThis study represents the first formal examination for heterogeneity in the familial aggregation of fasting serum uric acid (UA) levels. Data from 5 clinics (Cincinnati, Stanford, Iowa, Minnesota, and Oklahoma) participating in the Lipid Research Clinics (LRC) family study, which included a total of 685 nuclear families (N = 2, 146), were analyzed. Heterogeneity among the clinics in familial resemblance was detected. However, this heterogeneity could not be attributed to differences in distributional properties (such as means and variances) or to path model parameters representing latent genetic or cultural (environmental) components associated with UA levels. Intergenerational differences in genetic heritabilities were found, with higher offspring (h2 = 43%) than parent (h2z2 = 16%) estimates, but no generational differences were detected for cultural heritability (c2 = 0.09). Equal maternal and paternal cultural transmission was found, and effects due to extra sibling environments and to marital resemblance were both significant. These results show no clear indication as to the source of the heterogeneity observed for familial resemblance of UA levels in randomly selected data. This question should be further investigated, especially in clinical samples such as dyslipoproteinemic families.
Oto‐palato‐digital syndrome, type II: Evidence for defective intramembranous ossification
Authors: Ogata Tsutomu , Matsuo Nobutake , Nishimura Gen , Hajikano Hiroshi 
Published: June 2005

AbstractWe report on a Japanese boy with cto‐palato‐digital syndrome type II, an X‐linked lethal congenital skeletal dysplasia. The clinical, radiological, and histological findings indicate that defective intramembranous ossification may be the principal abnormality responsible for the entity.
Syndrome of brittle cornea, blue sclera, and joint hyperextensibility
Authors: Zlotogora Joel , BenEzra David , Cohen Tirza , Cohen Evelyne 
Published: June 2005

AbstractIn 3 families 4 patients were affected with the syndrome of brittle cornea, blue sclera, and hyperextensible joints (brittle cornea syndrome). From the review of 17 affected patients described previously and our cases, it appears that this rare autosomal recessive syndrome has variable expressivity. Two different groups of patients may be distinguished: one includes 5 families, all of Tunisian Jewish origin. All patients in this group also have red hair. In the second group, 9 families are from various ethnic origins; affected patients in this group have a normal distribution of hair color. A possible explanation for the existence of these 2 different group of patients is that the locus of the gene responsible for the syndrome is closely linked to the locus for a gene responsible for hair color with linkage disiquilibrium in Tunisian Jews (Sepharadim).
Hypodipsic hypernatremia and hypertriglyceridemia associated with cleft lip and cleft palate: A new hypothalamic dysfunction syndrome?
Authors: Ben‐Amitai Dan , Rachmel Avinoam , Levy Yael , Sivan Yakov , Nitzan Menachem , Steinherz Reuben 
Published: June 2005

AbstractWe report on a 4‐month‐old girl with congenital hypodipsic hypernatremia resulting from decreased sensitivity of the hypothalamic osmoreceptors with increased tonicity in association with hyperlipemia and cleft lip and cleft palate. We postulate that the link among these various derangements is hypothalamic Dysfunction.
Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusions
Authors: Frydman Moshe , Bar‐Ziv Jacob , Preminger‐Shapiro Rivka , Brezner Amichai , Brand Natan , Ben‐Ami Tamar , Lachman Ralph S. , Gruber Helen E. , Rimoin David L. 
Published: June 2005

AbstractWe report on 6 patients with short stature and progressive enchondromatous‐like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the similarity in radiographic changes and body proportions, genetic heterogeneity is suggested by the presence of CNS calcifications in 3 patients. Two of the latter had progressive quadriparesis. We tentatively classified these patients into 2 provisional types.An iliac crest biopsy in one of the patients with “type I” disease did not demonstrate enchondromatosis. Light and transmission electron microscopic studies demonstrated large cisterns and small inclusion bodies containing a flocculent material within the rough endoplasmic reticulum of the chondrocytes. Based on the histological and radiographic findings, we propose to classify these conditions among the spondylometaphyseal skeletal dysplasias.
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)
Authors: Estabrooks Laurel L. , Rao Kathleen W. , Donahue Roger P. , Aylsworth Arthur S. 
Published: June 2005

AbstractWe evaluated an infant because holoprosencephaly had been detected by prenatal ultrasound examination and magnetic resonance imaging (MRI). Postnatally, high‐resolution cytogenetic studies showed a minute deletion of chromosome 21(q22.3). This patient lacks many of the characteristics associated with monosomy 21, partial monosomy 21, and ring 21 chromosome patients. She also lacks the midline facial abnormalities often seen with holoprosencephaly. The similarity in facial appearance between this case and one previously reported patient with holoprosencephaly and a ring chromosome 21 suggests a causal relationship between holoprosencephaly and deletion of chromosome 21(q22.3). These findings also suggest that infants and children with developmental delay and apparently normal facial appearance should be examined for holoprosencephaly and that all identified patients with holoprosencephaly need high‐resolution cytogenetic studies with careful attention to the terminal portion of 21q.
Familial congenital diaphragmatic defect and associated midline anomalies: Further evidence for an X‐linked midline gene?
Authors: Carmi R. , Meizner I. , Katz M. 
Published: June 2005

AbstractWe report on familial occurrence of congenital diaphragmatic defect and associated midline anomalies, namely cleft palate and omphalocele in brothers. This family further supports the existence of an X‐linked gene involved in the organization of the embryonal midline. This particular mutant gene might be active in the schisis‐morphogenesis phenomena occurring at the midline.
De novo direct Tandem duplication of the short arm of chromosome 7(p21.1‐p14.2)
Authors: Dȩbiec‐Rychter Maria , Overhauser Joan , Kałuźewski Bogdan , Jakubowski Lucjusz , Truszczak Barbara , Wilson Wesley , Skorski Maria , Jackson Laird 
Published: June 2005

AbstractWe report on a 6‐year‐old boy with moderate developmental retardation and unusual dermatoglyphics. Cytogenetic analysis demonstrated a duplication of chromosome subregion 7p21.2‐p14.2. Confirmation of the specific duplicated region was determined by quantitative Southern blotting by using a DNA fragment previously localized to the portion of chromosome 7 thought to be duplicated. This patient did not have the internal malformations seen with other dup(7p) patients.
Distal 12p deletion in a stillborn infant
Authors: Baroncini A. , Avellini C. , Neri C. , Forabosco A. 
Published: June 2005

AbstractA stillborn female with a “de novo” deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, and posteriorly angulated ears. Comparison of this case with 4 previous reported patients with an isolated distal del(12p) fails to show significant common phenotypic characteristics.
Familial sex chromosomal mosaicism
Authors: Juberg Richard C. , Holliday Daniel J. , Hennessy Victoria S. 
Published: June 2005

AbstractFamilial mosaicism has rarely been reported either for autosomes or sex chromosomes. Its recognition poses problems in prognosis, especially in prenatal diagnosis. Three generations of females showed sex chromosomal mosaicism with 3–4 cell lines, the diploid predominant. Phenotypic effect, if any, appeared limited to reduced fertility. The proposita, ascertained prenatally, has grown and developed normally. A dominant gene mechanism most likely accounts for the observations, either autosomal or X‐linked. If the mechanism in this family is monogenic, then the gene may not be strictly private considering the frequency of mosaic amniotic fluid cell cultures.
Midline facial defects with ocular colobomata
Authors: Temple I. K. , Brunner H. , Jones B. , Burn J. , Baraitser M. 
Published: June 2005

AbstractWe describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal “dysplasia.” Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal “dysplasia.” The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.
Craniosynostosis and lid anomalies: Report of a girl with Michels syndrome
Authors: Cunniff Christopher , Jones Kenneth Lyons 
Published: June 2005

AbstractWe report on a 2‐year‐old girl with Michels syndrome, a condition characterized by mental deficiency, craniosynostosis, blepharophimosis, ptosis, and epicanthus inversus. The phenotypic findings are compared with those of previously reported cases.
Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts
Authors: Bodker Fred S. , Lavery Mary Ann , Mitchell Thomas N. , Lovrien Everett W. , Maumenee Irene H. 
Published: June 2005

AbstractA family with autosomal dominant congenital cataracts was studied to determine clinical variability. A total of 159 relatives was ascertained; 17 affected and 19 normal individuals were evaluated and their blood sampled for inclusion in the linkage analysis. The disease was compatible with normal to mildly decreased visual acuity until adult life in all affected except the product of a consanguineous marriage of affected first cousins who was born with bilateral microphthalmos and dense congenital cataracts, attributed to homozygosity of the cataract gene. There were no extraocular abnormalities; the patient was of normal intelligence. Twenty‐three markers were typed, 18 of which were informative. Linkage could be excluded for all 18 markers at short distances.
Parental origin of chromosome 5 deletions in the cri‐du‐chat syndrome
Authors: Overhauser J. , McMahon J. , Oberlender S. , Carlin M. E. , Niebuhr E. , Wasmuth J. J. , Lee‐Chen J. 
Published: June 2005

AbstractThe parental origin of de novo deletions leading to the cri‐du‐chat syndrome has been investigated. Since the cri‐du‐chat syndrome is correlated with deletions involving the short arm of chromosome 5 (5p), DNA fragments known to detect restriction fragment length polymorphisms (RFLPs) along 5p were used to establish whether the paternal or the maternal chromosome had suffered the deletion. In cases where only one parent was available, somatic cell hybrids were used in conjunction with RFLP analysis to determine the origin of the deleted chromosome. The deleted chromosome 5 was of paternal origin in 20/25 cases.
Walker‐warburg syndrome with microtia and absent auditory canals
Authors: Gershoni‐Baruch Ruth , Mandel Hanna , Miller Benjamin , Sujov Polo , Braun Jacob 
Published: June 2005

AbstractWalker‐Warburg syndrome is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system and eye. Typical finding include hydrocephalus, agyria, retinal dysplasia, cerebellar dysgenesis, anterior chamber dysgenesis, and encephalocele. Recently, the phenotypic spectrum has been expanded to include congenital muscular dystrophy. Two sibs with Walker‐Warburg syndrome are reported. One sib had congenital glaucoma and hydrocephalus. The other sib had hydrocephalus, microtia, absent auditory canals, and pale retinas, barely within the phenotypic spectrum of the disorder. Elevation of muscle enzymes was consistent with the diagnosis of Walker‐Warburg syndrome.
Prevalence study of Prader‐Willi syndrome in North Dakota
Authors: Burd Larry , Vesely Barbara , Martsolf John , Kerbeshian Jacob 
Published: June 2005

AbstractA prevalence study of Prader‐Willi syndrome (PWS) has been conducted in North Dakota. All pediatricians, neurologists, child psychiatrists, psychologists, and clinical geneticists were surveyed. The state's comprehensive evaluation center, the state hospital, the state institution for the mentally retarded, and group homes for the developmentally disabled, including one for persons with PWS, were also contacted. Seventeen patients were identified, 8 males, 8 females, and one patient whose sex was not specified. This suggests a prevalence rate of 1 per 16,062 in North Dakota.
Lambotte syndrome: Microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality—A new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs
Authors: Verloes A. , Dodinval P. , Beco L. , Bonnivert J. , Lambotte C. 
Published: June 2005

AbstractWe report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.
Carrier testing and prenatal diagnosis for hemophilia: Experiences and attitudes of 549 potential and obligate carriers
Authors: Varekamp I. , Suurmeijer Th. P. B. M. , Bröcker‐Vriends A. H. J. T. , van Dijck H. , Smit C. , Rosendaal F. R. , Briët E. 
Published: June 2005

AbstractExperiences with and attitudes toward carrier testing and prenatal diagnosis were evaluated among 549 potential and obligate carriers of hemophilia. Almost everybody considered carrier testing to be useful. Forty‐nine percent had been tested for carriership, 10% had only received limited information, and 41% had not been tested and had never received information about the heredity of hemophilia. More married women, women with severe hemophilia in their family, and women closely related to a patient with hemophilia had been tested for carriership than others. Lack of information about the probability of carriership for female relatives and a similar ignorance of the possibility of carrier testing were important reasons for not having been tested. Eleven percent of the women with one or more children had undergone prenatal diagnosis in the past. Thirty‐one percent of the study population would favour prenatal diagnosis with the implication of a potential abortion in early pregnancy and half of them would choose this option even in late pregnancy. Most of the women who objected to prenatal diagnosis did so because they did not consider hemophilia to be a sufficiently serious disorder to justify an abortion.
Microphthalmia and chorioretinal lesions in a girl with an Xp22.2‐pter deletion and partial 3p trisomy: Clinical observations relevant to aicardi syndrome gene localization
Authors: Donnenfeld Alan E. , Graham John M. , Packer Roger J. , Aquino Rosaria , Berg Susan Z. , Emanuel Beverly S. 
Published: June 2005

AbstractWe present a 4‐year‐old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of Aicardi syndrome. However, she had a normal‐appearing corpus callosum on CT and magnetic resonance imaging scans of the brain and her retinal findings were not typical for Aicardi syndrome. This represents the 6th reported example of microphthalmia associated with an Xp22 chromosome abnormality. Four of these individuals also had features suggestive of focal dermal hypoplasia (FDH), which was not evident in our patient. The available evidence supports the hypothesis that gene disruption at Xp22 may lead to findings similar to those seen in Aicardi syndrome and FDH, both of which are believed to be X‐linked dominant male lethal conditions.
Somatic mosaicism at the duchenne locus
Authors: Lebo Roger V. , Olney Richard K. , Golbus Mitchell S. 
Published: June 2005

AbstractResults of testing a family for carrier status and prenatal diagnosis for Duchenne muscular dystrophy (DMD) are best explained by somatic mosaicism in the maternal grandfather. This genetic situation was identified using segregation analysis of intragenic DNA polymorphisms, a serum creatine phosphokinase assay, and physical examination of the patient. This event at the DMD locus represents one more potential source of error in carrier testing and prenatal diagnosis.
The craniodigital syndrome of Scott: Report of a second family
Authors: Lorenz Peter , Hinkel Georg Klaus , Hoffmann Carola , Rupprecht Edgar 
Published: June 2005

AbstractWe report on a boy with a characteristic combination of facial anomalies, syndactylies of fingers and toes, and mental retardation. Scott et al. (Journal of Pediatrics 78:658–663, 1971) observed 3 brothers with almost identical manifestations. The mother of these patients had bilateral syndactyly of toes 2 and 3. This led the authors to suggest X‐linked inheritance. The mother of our patient also has cutaneous syndactyly between the second and third toes, strengthening the hypothesis of X‐linked inheritance.
Ullrich‐turner syndrome with agenesis of the corpus callosum
Authors: Kimura Masahiko , Nakajima Masako , Yoshino Kunio 
Published: June 2005

AbstractWe report on a 19‐year‐old woman with 45,X Ullrich‐Turner syndrome who was severely mentally retarded and had hypotonia. Computer tomography (CT) scan showed agenesis of the corpus callosum. There have been few reports of gross developmental central nervous system (CNS) abnormalities in Ullrich‐Turner syndrome. Only one case of Ullrich‐Turner syndrome with agenesis of the corpus callosum has been reported. The high prenatal lethality of Ullrich‐Turner syndrome may mask a CNS abnormality.
Chromosome lesions which could be interpreted as “fragile sites” on the distal end of Xq
Authors: Butler Merlin G. , Allen G. Andrew , Haynes Judy L. , Clark Samuel J. 
Published: June 2005

AbstractChromosome lesions which could be interpreted as “fragile sites” on the distal end of the long arm of the X chromosome were identified during a cytogenetic study of 160 mentally retarded adult males with no apparent cause of their mental retardation and one normal adult female with a family history of fra (X) syndrome. Peripheral blood samples were cultured in either M199 or RPMI 1640 medium with FUdR or BrdU. Metaphases were examined for chromosome lesions or fragile sites on the distal end of Xq and 3 distinct sites were observed: Xq26, Xq27.2, and Xq27.3. Other chromosome lesions at Xq28 were observed and interpreted as nonspecific telomeric structural changes. Chromosome lesions were observed in cells from 14 of the 161 individuals. These included: 5 patients with an Xq26 site, 2 with the recently reported Xq27.2 site, 4 with the Xq27.3 site (characteristic of the fra (X) syndrome), 2 with nonspecific telomeric structural changes, and one individual with 2 lesions (a nonspecific telomeric structural change and an Xq26 site). Additional research is necessary to determine the frequency and clinical significance, if any, of lesions occurring in this region of the X chromosome and to distinguish among heritable fragile sites, constitutive fragile sites, and nonspecific telomeric structural changes.
True precocious puberty in a girl with the fragile X syndrome
Authors: Moore Patrick S. J. , Chudley Albert E. , Winter Jeremy S. D. 
Published: June 2005

AbstractA 2.8‐year‐old girl was investigated for early breast development and delayed psychomotor development. Chromosome analysis showed a fragile site at Xq27. Skeletal maturation was advanced. Computerized tomography of the head was normal. Pelvic ultrasonography showed ovaries and uterus enlarged for age. Basal serum gonadotropins were within the normal prepubertal range, but serum luteinizing hormone (LH) and follicle‐stimulating hormone (FSH) levels rose during sleep and following stimulation by gonadotropin‐releasing hormone (GnRH), consistent with true precocious puberty. The occurrence of precocious puberty in this girl, and macro‐orchidism in affected males may be a reflection of an underlying disturbance of hypothalamic‐pituitary‐gonadal function in fragile X patients.
Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies
Authors: Sachs Eva S. , Jahoda Milena G. J. , Los Frans J. , Pijpers Leen , Reuss Annette , Wladimiroff Juriy W. 
Published: June 2005

AbstractIn 3,000 chorionic villi studies (CVS) 33 cases of mosaicism and 7 false‐positive cell lines in all cells were seen. The mosaic cell lines were caused by aneuploidy of autosomes (13x), sex chromosomes (9x), and structural anomalies (11x). Mosaics of fetal origin were only 4 cases of trisomy 21 and one 47,XXY mosaic. In 7 cases abnormal karyotype of non‐fetal origin was seen in all cells in direct studies, including trisomy 16 (3x) and trisomy 18 (2x). The combined use of direct CVS and cell cultures always uncovered the non‐fetal origin of chromosome abnormalities and the study of cultured cells in all cases could have prevented 5 terminations. Complete follow‐up studies demonstrated no false‐negative results. Therefore, CVS can be nearly 100% accurate when both direct studies and cultures are examined in cases of mosaicism and other cell lines of possible non‐fetal origin, such as trisomy 16, trisomy 18, translocation (21;21), and 45,X cells.
Jeune syndrome associated with cystinuria: Report of two sisters
Authors: Rinaldi S. , Dionisi‐Vici C. , Goffredo B. , Dallapiccola B. , Rizzoni G. 
Published: June 2005

AbstractJeune syndrome is generally lethal in the first months of life. Surviving patients develop progressive renal failure and hepatic fibrosis. We describe 2 sisters, aged 7 and 2 years, respectively, who had Jeune syndrome associated with cystinuria. To our knowledge, this is the first reported association of these 2 autosomal recessive disorders.