bluuebunny/crossref_metadata_2025_split huggingface dataset:
Holoprosencephaly as a possible embryonic alcohol effect
Authors: Ronen Gabriel M. , Andrews Wayne L. 
Published: June 2005

AbstractThree mothers of infants with holoprosencephaly consumed alcohol heavily in pregnancy. We postulate that early alcohol exposure is a possible cause of their malformation. The 3 mothers consumed alcohol only in the first trimester but the first mother continued to take chlordiazepoxide and imipramine throughout the pregnancy. Her infant had an alobar holoprosencephaly associated with a median cleft lip, ocular hypotelorism, and a flat nose. The other infants had semilobar holoprosencephaly and hydrocephalus. These latter 2 infants did not show the characteristic facies of the fetal alcohol syndrome. G‐band chromosome studies were normal in all 3 infants. The association of holoprosencephaly with alcohol exposure during pregnancy in humans has been mentioned only briefly, although this malformation has been induced by alcohol in animals. These 3 infants may support the hypothesis that acute or subacute heavy alcohol exposure early in pregnancy could lead to holoprosencephaly without the necessity of a chronic alcohol exposure and without necessarily causing the typical facial findings of the fetal alcohol syndrome.
Noonan‐like/multiple giant cell lesion syndrome
Authors: Cohen M. Michael , Gorlin Robert J. 
Published: June 2005

AbstractA patient with the Noonan‐like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. It has been difficult to delineate the syndrome because problems in identifying the condition have resulted from incomplete or truncate ascertainment by various medical specialists.
Apparent Opitz BBBG syndrome with a partial duplication of 5p
Authors: Leichtman Lawrence G. , Werner Alice , Bass W. Thomas , Smith Deborah , Brothman Arthur R. 
Published: June 2005

AbstractWe describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.
Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36
Authors: Hatziioannou Androniki G. , Krauss Celeste M. , Lewis Michael B. , Halazonetis Thanos D. 
Published: June 2005

AbstractA familial balanced t(7;9) (q36;q34) was reported recently. Analysis of the craniofacial features of 3 of the sibs showed signs of holoprosencephaly. Two ofthe sibs have an unbalanced derivative chromosome leading to del(7) (q36) and dup(9) (q34), while the other has a cytogenetically balanced translocation. These findings, together with several reports associating holoprosencephaly with terminal 7q deletions, indicate that a putative locus for holoprosencephaly resides at or near 7q36. It should now be feasible to clone this locus.
Short rib syndrome—Beemer type in sibs
Authors: Hennekam Raoul C. M. 
Published: June 2005

AbstractThe short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly. Two affected female sibs are described, one having a preaxial polydactyly of the feet. The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia. Molecular biology may eventually prove whether the 2 conditions are truly separate entities or not.
Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 fragile X families
Authors: Cianchetti Carlo , Sannio‐Fancello Giuseppina , Fratta Anna‐Lisa , Manconi Francesco , Orano Ada , Pischedda Maria‐Paola , Pruna Dario , Spinicci Gabriella , Archidiacono Nicoletta , Filippi Giorgio 
Published: June 2005

AbstractOne hundred forty‐nine subjects from 18 families with fragile X [fra(X)] syndrome were evaluated for their neuropsychological, psychiatric, and physical characteristics. The 36 fra(X) males had intelligence quotients ranging from < 20 to 61, which prevented the delineation of a reliable neuropsychological profile. Behaviour fitted DSM‐III‐R and ADI diagnostic criteria of autism in only 2 subjects, both with very low intelligence level (IQ < 20). Of 36 heterozygotes (HZ), 22 had an IQ between 20 and 80 and 14 between 81 and 99. The neuropsychological profile of the latter was compared with IQ‐age‐environmentmatched 14 normal females and 14 normal males. Significantly poorer results in HZ were found on immediate digit memory and on Raven's progressive matrices (a visuo‐spatial test of logical capabilities). The latter result, in conjunction with those results on the Bender visual‐motor gestalt test and on some WAIS subtests, suggests a frequent deficit in spatial capabilities in such subjects. Such results tended to be confirmed by the profiles of the 22 HZ with IQ 20‐80. No psychiatric abnormalities were found in HZ, except in one subject with IQ < 20 which fitted DSM‐III‐R and ADI criteria for autism. Typical physical manifestations, especially cranio‐facial, were more frequently present in the HZ group with lower IQ. Subnormal IQ was probably the most reliable abnormality for the detection of HZ in 49 females at 50% and 25% risk of heterozygosity.
Keratitis, hepatitis, ichthyosis, and deafness: Report and review of KID syndrome
Authors: Wilson Golder N. , Squires Robert H. , Weinberg Arthur G. 
Published: June 2005

AbstractA 14‐year‐old girl with ichthyosis and severe liver disease is compared to 35 reported cases of KID or Senter syndrome. Common manifestations such as ichthyosis (35/35 patients), sensorineural deafness (33/34), “ectodermal dysplasia” (25/28), corneal abnormality (26/31) were present in the proposita, while less common manifestations such as chronic infections (15/20) and neuromuscular disease (12/35) were absent. Two families with vertical transmission and 28 sporadic cases are compatible with an autosomal dominant form of KID syndrome, while one inbred sibship with liver disease suggests the existence of an autosomal recessive form. The proposita was similar to the latter patients in having progressive cirrhosis necessitating liver transplantation; she also had short stature (10/35 patients) and mental retardation (3/35). Hepatic findings included micronodular cirrhosis, cholestasis, hyperplastic Kupffer cells, abundant Mallory's hyaline, copper accumulation without steatosis, and normal peroxisomes.
Jarcho‐Levin syndrome: Four new cases and classification of subtypes
Authors: Karnes Pamela S. , Day Deborah , Berry Susan A. , Pierpont Mary Ella M. 
Published: June 2005

AbstractThe Jarcho‐Levin syndrome is a condition manifested by vertebral body and related rib malformations. We report on four new cases and review 57 cases from the literature. Analysis of the 61 cases suggests that there are two major subtypes (spondylocostal dysostosis and spondylothoracic dysostosis) with different survival rates, associated malformations, and inheritance patterns. Individuals with spondylothoracic dysostosis have vertebral body malformations and ribs which flare in a fanlike pattern but which are not significantly malformed. This is an autosomal recessive trait, and the patients have a higher mortality rate and greater incidence of neural tube defects. Individuals with spondylocostal dysostosis have vertebral malformations, frequent dramatic rib malformations, and short stature, but do not have a fanlike thoracic configuration. Most cases of spondylocostal dysostosis are inherited in an autosomal recessive fashion, although in a few families it is a dominant trait which is correlated with better survival. Respiratory compromise previously accounted for the high mortality in these conditions, but improvements in respiratory technology have increased survival. Appropriate classification of these similar phenotypes will improve counseling concerning recurrence risk, management, and prognosis.
Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance
Authors: Hoo Joe J. , Kapp‐Simon Kathleen , Rollnick Beverly , Chao Margaret 
Published: June 2005

AbstractWe present a patient with oculocerebrocutaneous syndrome. The boy shows only mild psychomotor delay in spite of rather severe appearing anomalies of the central nervous system. A primarily unilateral involvement of this syndrome is emphasized. A postzygotic/somatic mutation resulting in a mosaic state might account for the primarily ectodermal involvement, the unilateral predominance, and the sporadic nature of this syndrome. An alternative hypothesis of an environmental factor might also explain the clinical manifestations of the syndrome.
Spondylo‐metaphyseal dysplasia Algerian type: Confirmation of a new syndrome
Authors: Rybak M. , Foley T. P. , Kozlowski K. 
Published: June 2005

AbstractWe report on a further case of a recently described type of spondylo‐metaphyseal dysplasia in a 1210/12‐year‐old Polish boy. The original paper described the disorder in five relatives in an Algerian family.
Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome
Authors: Petrella Rena , Hirschhorn Kurt , German James 
Published: June 2005

AbstractCytogenetic analysis of the products of conception in a pregnancy at risk for Bloom's syndrome (BS) documented the karyotype 49,XX, + 2, + 8, + 11. Autosomal triple trisomy has previously been reported in abortuses but is exceedingly rare. Other interesting but previously unreported observations made during the present study were the following: BS in a Brazilian individual, the first instance of BS diagnosed in South America; transmission of the BS mutation in Jews that are non‐Ashkenazi; a medulloblastoma in the propositus, the first malignant brain tumor reported in BS; and, as in all previously examined pregnancies at risk for BS, non‐homozygosity for the BS mutation.
Cataracts, aberrant oral frenula, and growth retardation: A new autosomal dominant syndrome
Authors: Wellesley Diana , Carman Paul , French Noel , Goldblatt Jack 
Published: June 2005

AbstractWe report on a mother and her two children with an autosomal dominant cataract syndrome with associated aberrant oral frenula, growth retardation, and specific facial appearance. Their phenotype differs from that of other reported cataract syndromes, and we conclude that this is a previously undescribed entity.
Delayed spontaneous pubertal growth spurt in girls with the Ullrich‐Turner syndrome
Authors: Pelz Lothar , Sager Günther , Hinkel Georg Klaus , Kirchner Margitta , Krüger Gabriele , Verron Günther 
Published: June 2005

AbstractBy means of an appropriate mathematical model (Sager's 2‐components‐concept) a delayed spontaneous pubertal growth spurt can be demonstrated in girls with 45, X Ullrich‐Turner syndrome (UTS) (n1 = 45) as well as in those with 45, X/46,XX mosaicism (n2 = 14) never treated with any growth stimulating drug. On the average, this growth spurt begins later and its extent is smaller (mean growth rate = 3.10 and 2.79 cm, respectively, in the 15th year of chronological age) than in normal girls. The delay in acute growth spurt corresponds very well to the delay of skeletal maturation in the UTS (on the average 2 to 3 years of chronological age).
Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype
Authors: Chitty Lyn S. , McCrimmon Rory , Temple I. Karen , Russell‐Eggitt Isobel M. , Baraitser Michael 
Published: June 2005

AbstractWe report on an autosomal dominant syndrome comprising partially absent eye muscles, anterior chamber defects, hydrocephalus, skeletal changes, and a specific facial phenotype.
Hepatic dysfunction in Alström disease
Authors: Connolly Mary B. , Jan James E. , Couch Robert M. , Wong Lawrence T. K. , Dimmick James E. , Rigg J. Michael 
Published: June 2005

AbstractAlström disease is a rare disorder; less than 20 cases have been reported. An 11‐year‐old girl is described with this condition. She has pigmentary retinopathy, sensory neural deafness, obesity, Type II diabetes mellitus, hyperlipidemia, and acanthosis nigricans. However, in addition she developed hepatic dysfunction, pathologically similar to chronic active hepatitis. This may be a further, previously undescribed systemic manifestation of Alström disease.
Opitz trigonocephaly syndrome
Authors: Haaf Thomas , Hofmann Renate , Schmid Michael 
Published: June 2005

AbstractWe report on a patient with Opitz trigonocephaly syndrome. The girl was the firstborn child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In addition, a complex cardiovascular defect (Eisenmenger disease) was observed. The patient was mentally retarded.
Ring chromosome 15 and 15qs+ mosaic: Clinical and cytogenetic behaviour spanning 29 years
Authors: Smith Arabella , den Dulk Gesina , Viersbach Renate , Michas John 
Published: June 2005

AbstractA phenotypic female with mild mental retardation, minor facial anomalies, and short stature has been evaluated clinically and cytogenetically over 29 years. At age 59, she remains physically well and shows no signs of dementia. Cytogenetic analysis, performed on peripheral blood specimens on 10 occasions between 1961 and 1990, showed mosaicism with one cell line containing a large stable ring (15) chromosome and another cell line without the ring but with a 15qs +. The different cell lines remained constant. The case provides information on the natural history of the ring chromosome 15 syndrome.
Trisomy 9 confined to the placenta: Prenatal diagnosis and neonatal follow‐up
Authors: Appelman Z. , Rosensaft J. , Chemke J. , Caspi B. , Ashkenazi M. , Mogilner M. B. 
Published: June 2005

AbstractChorionic villus sampling (CVS), performed on a woman in the 23rd menstrual week because of bilateral fetal hydronephrosis and suspected intrauterine growth retardation (IUGR), documented trisomy 9 in all cells examined. Chromosomes of amniocytes and fetal blood lymphocytes were normal. The ongoing pregnancy was monitored closely, and at 37 weeks, a phenotypic normal male infant was delivered. Multiple placental biopsies showed 47,XY,+9, while a repeat chromosome analysis of the infant and biopsies from the amniotic membrane were normal (46,XY). This case further emphasizes the association between placental aneuploidy and IUGR. To our knowledge, nonmosaic trisomy 9 in CVS confined to the chorionic villi and later confirmed in the placenta has not been reported previously.
San Luis Valley Recombinant chromosome 8 and tetralogy of Fallot: A review of chromosome 8 anomalies and congenital heart disease
Authors: Gelb Bruce D. , Towbin Jeffrey A. , McCabe Edward R. B. , Sujansky Eva 
Published: June 2005

AbstractTetralogy of Fallot, the most common cyanotic heart defect, has not been closely associated with a specific chromosome defect. The San Luis Valley Recombinant Chromosome 8 [SLV Rec(8)] syndrome is strongly associated with congenital heart disease, particularly tetralogy of Fallot. This article reviews SLV Rec(8) syndrome and other chromosome 8 aberrations to suggest locations for cardiogenic genes.SLV Rec(8) [rec(8), dup q,inv(8)(p23q22)] syndrome has been found in Hispanic families in the southwestern United States. Congenital heart disease is found in 93.3% of SLV Rec(8) individuals (n = 45), with tetralogy of Fallot constituting 40.5% of all lesions and conotruncal defects, 55.6%. These frequencies exceed the incidence of tetralogy of Fallot (10%) and conotruncal defects (20%) among all children with heart defects (P<0.003 for both).Review of patients with deletion 8p (n=13) showed heart defects in 84.6% with 27.3% being conotruncal defects. Among duplication 8q patient (n = 20), 45% had heart defects with conotruncal defects constituting 44%. Neither group differed significantly from expected in its incidence of conotruncal defects. Among patients with mosaic trisomy 8 (n = 47), 12 had heart abnormalities including one conotruncal defect. Among 3 patients with other rec(8) chromosomes, one had a ventricular septal defect.The cause of heart defects in SLV Rec(8) cannot be assigned to either the deletion of 8p or the duplication of 8q. The lack of an association between other chromosome 8 abnormalities and tetralogy of Fallot suggests that genes at the SLV Rec(8) breakpoints or an interaction between genes on both arms of chromosome 8 are important.
Absence of fetal cells in maternal circulation at a level of 1 in 25,000
Authors: Nakagome Yasuo , Seki Satoko , Nagafuchi Shigeo , Nakahori Yutaka , Sato Kodo 
Published: June 2005

AbstractA dual polymerase chain reaction (PCR) technique is developed which enables the detection of one part male DNA in 25,000 parts female DNA. The technique amplifies a part of the X‐Y homologous amelogenin gene in which the Y counterpart has a 189 bp deletion within one of the introns. This deletion has made it possible to identify individual X and Y counterparts based on the difference in size between them.None of the 18 pregnant women studied showed a positive Y‐signal although eight of them bear male fetuses excluding the presence of fetal cells at one in 25,000 maternal cells. The results presented here show that a sensitivity of greater than one in 25,000 is required for detection of fetal genetic disease using maternal peripheral blood.
Townes—Brocks syndrome in two mentally retarded youngsters
Authors: Cameron Thomas H. , Lachiewicz Ave M. , Aylsworth Arthur S. 
Published: June 2005

AbstractWe report on 2 children with Townes‐Brocks syndrome (TBS) and mental retardation. One child had mild hearing loss, but the other only had hearing loss at 8000 Hz. These cases suggest that there may be an increased incidence of mental retardation in individuals with TBS.
Hand and foot length in Prader‐Willi syndrome
Authors: Hudgins Louanne , Cassidy Suzanne B. 
Published: June 2005

AbstractSmall hands and feet (acromicria) are often cited as manifestations in the Prader‐Willi syndrome (PWS), but it has been our experience that these are not universal findings. To address this issue, we obtained longitudinal and cross‐sectional data, retrospectively and prospectively, including height, hand length, and foot length, on 56 patients with PWS who are followed in the multidisciplinary PWS clinic at the University of Connecticut Health Center. Hand and foot lengths were plotted using two published sets of normative data. In addition, height age was calculated on each measurement of stature so that the corresponding hand and foot measurements could be compared to those expected for height, rather than age, as many PWS individuals are short. Foot length was proportionately smaller than hand length in all individuals; this difference was more striking in females. By age 12 years, almost all individuals had a footlength <25th centile for chronological age and <50th centile for height age. Female hand length was also <25th centile for chronological by age 12 years and <50th centile for height age in almost all cases. Male hand length data appeared to fall more within the normal range until adulthood, although fewer data were available. Black individuals with PWS had relatively larger hands and feet than their Caucasian counterparts. Many people with PWS had hand and foot lengths which fell within the normal range, particularly those under the age of 12 years and those whose height was >50th centile for age. Therefore, clinicians should use hand and foot lengths prudently as a diagnostic criterion when evaluating individuals for PWS.
Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]
Authors: Surh Linda C. , Ledbetter David H. , Greenberg Frank 
Published: June 2005

AbstractA 27‐month‐old boy with mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects was found to have an interstitial deletion of chromosome 18 involving band q12.1 or q12.3.
Concordance of auriculo‐cardiovascular‐skeletal malformations: A new malformation complex in an infant of a diabetic mother?
Authors: Berkenstadt Michal , Shtrausberg Rachel , Goodman Richard M. , Katznelson Mariassa Bat‐Miriam , Goldman Boleslav , Barkai Gad 
Published: June 2005

AbstractThe incidence of malformations among infants of diabetic mothers (IDM) is known to be higher than in the general population. These malformations usually involve several organ systems and in the past few years there has been an attempt to group them into distinct “syndromes.” The present report concerns a child with a specific constellation of findings not yet reported in the infant of a diabetic mother, and we drge our colleagues to look for other associations existing in these infants, rather than just listing series of individual malformations.
Marshall syndrome
Authors: Stratton Robert F. , Lee Brendan , Ramirez Francesco 
Published: June 2005

AbstractWe report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in type II collagen are reported. We compare and contrast Marshall syndrome with the Stickler syndrome, and propose that enough phenotypic overlap exists to suggest that they are probably allelic expressions of the same locus.
Denaturing gradient gel electrophoresis of the α1‐antitrypsin gene: Application to prenatal diagnosis
Authors: Dubel Jacqueline R. , Finwick Raymond , Hejtmancik J. Fielding 
Published: June 2005

AbstractA method for detection of the M and Z alleles of the alpha 1‐antitrypsin deficiency (AAT) gene has been developed using denaturing gradient gel electrophoresis (DGGE) of DNA samples amplified in vitro by the polymerase chain reaction. Amplification of the 90 nucleotides surrounding the Z mutation site with concurrent attachment of a 40 bp GC‐rich region yields DNA fragments that are easily and quickly separated by DGGE. Results are consistently attained in 1–2 days, making this one of the most rapid method of diagnosis of AAT deficiency to date. Additionally, the analyses are completed entirely without the use of radioactive probes, thus eliminating the problems and precautions that are inherent with the use of32P. The simplicity and reliability of this technique make it well suited for routine use in diagnostic laboratories.
Cerebro‐oculo‐facio‐skeletal syndrome: Further delineation
Authors: Gershoni‐Baruch Ruth , Ludatscher Ruth M. , Lichtig Chaim , Sujov Polo , Machoul Imad 
Published: June 2005

AbstractWe report on a newborn infant with cerebrooculo‐facio‐skeletal (COFS) syndrome. Congenital muscular dystrophy‐like changes were present in this patient. It is debated whether the clinical spectrum of the COFS phenotype should be expanded to include congenital muscular dystrophy:
Diagnosis of twin zygosity by hypervariable RFLP markers
Authors: Akane Atsushi , Matsubara Kazuo , Shiono Hiroshi , Yamada Masao , Nakagome Yasuo 
Published: June 2005

AbstractThe application of variable number of tandem repeat (VNTR) markers to the determination of twin zygosity was investigated. In the first case, which was performed with the use of six VNTR markers, the probability of monozygosity, calculated from Essen‐Möller's formula II, was 0.99972. In the other three cases in which four VNTR markers were analyzed, the probabilities were 0.98251–0.99557. These results suggest that VNTR markers are useful for determination of twin zygosity.