bluuebunny/crossref_metadata_2025_split huggingface dataset:
Origin of extraembryonic mesoderm in experimental animals: Relevance to chorionic mosaicism in humans
Authors: Bianchi Diana W. , Wilkins‐Haug Louise E. , Enders Allen C. , Hay Elizabeth D. 
Published: June 2005

AbstractConfined chorionic mosaicism, a discordance in the karyotype between the fetus and placenta, occurs in 1% of chorionic villus sampling (CVS) cases. While the cytogenetic discrepancies occurring between different fetal tissues may pose clinical dilemmas, they can also be viewed as a natural experiment to determine early cell lineage relationship in the human. We reviewed extensive data in experimental animals to define the origin of the human extraembryonic mesoderm. The extraembryonic mesoderm in humans is important component of the CVS culture preparation. Previously, the extraembryonic mesoderm was thought to originate in the cytotrophoblast or primitive streak. More recent evidence supports its origin from the yolk sac, which does not always correlate with the fetal karyotype. We formulated a model of early human cell lineage and employed it to clarify clinical cases of chorionic mosaicism in two large published studies. © 1993 Wiley‐Liss, Inc.
Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review
Authors: Wilkie A. O. M. , Campbell F. M. , Daubeney P. , Grant D. B. , Daniels R. J. , Mullarkey M. , Affara N. A. , Fitchett M. , Huson S. M. 
Published: June 2005

AbstractWe describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY,del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY,−10,+der(10)t(10;16)(q26.2;q21)] had an intersex phenotype. Of 8 males previously reported with terminal 10q deletion as the major or only cytogenetic abnormality, 2 had on intersex phenotype, and the others all had combinations of cryptorchidism, micropenis, and hypospadias. Terminal 10q deletions appear to be strongly associated with abnormal male genital development, and should be specificcally searched for in the cytogenetic workup of such cases. © 1993 Wiley‐Liss, Inc.
Robertsonian translocations: Clues to imprinting
Authors: Donnai Dian 
Published: June 2005

AbstractRobertsonian translocations, occurring with a frequency of about 1 in 10,000 livebirths, may be an important cause of uniparental disomy as demonstrated for 13/15, 13/14, 14/14, and 22/22 translocations. Dysmorphogenesis and/or mental retardation provide clinical clues for uniparental disomy in apparently balanced offspring of translocation carriers. Research strategies for assessing frequency and implications of uniparental disomy in translocation carriers include a genetic register approach, study of abortuses from balanced translocation carriers, and parent‐of‐origin studies on de novo homologous Robertsonian translocations. © 1993 Wiley‐Liss, Inc.
Frontonasal dysplasia in two successive generations
Authors: Fryburg Julie S. , Persing John A. , Lin Kant Y. 
Published: June 2005

AbstractFrontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonassal dysplasia. The mother has extremely mild expression, but her brother and 2 sons are more severly affected. Besides polydactyly no other birth defects were noted in any other relatives. The pedigree is consistent with autosomal or X‐linked dominant inheritance. A description of each patient is presented along with a discussion of the genetic counseling issue and review of the literature for other possibly familial cases of frontonasal dysplasia. © 1993 Wiley‐Liss, Inc.
Moving satellites and unstable chromosome translocations: Clinical and cytogenetic implications
Authors: Farrell S. A. , Winsor E. J. T. , Markovic V. D. 
Published: June 2005

AbstractWe describe 2 families in which acrocentric short arm material moved from one chromosome to another. In case 1, a meiotic event resulted in movement of an unusually large paternal 21p to chromosome 13 in the fetus. In case 2, a mitotic event resulted in fetal mosaicism. The short arm material from a paternal chromosome 15 moved to chromosome 14 in some of the fetal cells. Movement of acrocentric short arm material resulted from breakage and exchange in centromeric areas of repetitive DNA. We suggest the mechanism may be similar to that of previously reported “jumping” translocations.Failure to recognize movement of the short arms of acrocentric chromosomes can result in erroneous interpretation of prenatal cytogenetic results and of other cytogenetic assays dependent on acrocentric short arm polymorphisms. © 1993 Wiley‐Liss, Inc.
Congenital nonprogressive myopathy with Möbius and Robin sequence—the Carey‐Fineman‐Ziter syndrome: A confirmatory report
Authors: Schimke R. Neil , Collins Debra L. , Hiebert John M. 
Published: June 2005

AbstractRecently, we evaluated a 27‐month‐old boy with congenital generalized nonspecific myopathy, Möbius sequence, Robin sequence, and failure to thrive. We think the child has the same entity described by Carey, Fineman, and Ziter in 1982 [J Pediatr 101:353–364] and as such represents only the third example of this unusual syndrome. Review of the large number of conditions in which the Robin sequence occurs supports heterogeneity.Our case strengthens the Möbius‐Robin association and further defines the Carey‐Fine‐man‐Ziter syndrome as a viable entity. It is most likely inherited as an autosomal recessive trait. © 1993 Wiley‐Liss, Inc.
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber‐Say syndrome): Report of a new case
Authors: Santana S. Martínez , Alvarez F. Pérez , Frías J. L. , Martínez‐Frías M.‐L. 
Published: June 2005

AbstractWe report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6–9, 1982], and David et al. [Am J Med Genet 41:192–195, 1991]. © 1993 Wiley‐Liss, Inc.
Further delineation of the epidermal nevus syndrome: Two cases with new findings and literature review
Authors: Grebe Theresa A. , Rimsza Mary E. , Richter Sarah F. , Hansen Ronald C. , Hoyme H. Eugene 
Published: June 2005

Abstract“Epidermal nevus syndrome” (“ENS”) is a neurocutaneous disorder in which epidermal nevi are associated with other abnormalities, most commonly of the skeletal and central nervous systems. We present two cases of epidermal nevus syndrome (ENS) with very different clinical findings. The first case is a newborn with multiple linear epidermal nevi of the trunk and limbs, and several other anomalies, including bony duplications of the lower limbs and hypoplastic left heart syndrome. The second patient, a 6‐year‐old boy, has a linear nevus sebaceous of the scalp with severe CNS involvement, including generalized seizures, moderate mental retardation, microcephaly, and a left hemiparesis. He also has genitourinary, cardiac, and skeletal defects. These two patients exhibit several abnormalities not previously recognized and illustrate the wide clinical spectrum of “epidermal nevus syndrome.” We present a review of the clinical findings in 74 cases of “ENS.” Correlation was noted between the presence of skin lesions located on the head and CNS involvement. The wide clinical spectrum of “ENS” as illustrated by these two patients suggests that “ENS” is a causally heterogeneous group of disorders. © 1993 Wiley‐Liss, Inc.
Cerebro‐reno‐digital (Meckel‐like) syndrome with Dandy‐Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly
Authors: Genuardi Maurizio , Dionisi‐Vici Carlo , Sabetta Gaetano , Mignozzi Massimo , Rizzoni Gianfranco , Cotugno Giovanna , Neri Maria Enrica Martini 
Published: June 2005

AbstractWe report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post‐axial hexadactyly, and genital abnormalities, but a Dandy‐Walker malformation rather an occipital meningocele. Progressive deterioration of renal function beginning at 37 months led to death at 43 months. Both Dandy‐Walker malformation and survival to the fourth year are unusual findings in Meckel syndrome. This uncommom combination represents a further demonstration of the pleiotropy/heterogeneity of the cerebro‐reno‐digital syndromes. © 1993 Wiley‐Liss, Inc.
Interrelationships of the hemifacial microsomia‐VATER, VATER, and sirenomelia phenotypes
Authors: Duncan Peter A. , Shapiro Lawrence R. 
Published: June 2005

AbstractThe phenotypes of hemifacial microsomia‐VATER, VATER, and sirenomelia patients suggest a sequence of overlapping developmental abnormalities. The malformations of 247 hemifacial microsomia (HFM) patients with one or more anomalies in other body regions were analyzed and compared with those of 255 VATER and 101 sirenomelia patients studied in the same fashion. The HFM patients were analyzed in four subgroups delineated by the number of their concomitant VATER ascertainment abnormalities (VAA). Three or more VAA occurred in 33 HFM patients who were designated to have the HFM‐VATER phenotype and while no significant alteration of the HFM phenotype was found, there were notable differences in the analyses of the 20 malformation categories studied.Analyzed in separate heart and blood vessel (BV) categories, occurrences of BV defects in HFM patients with 0–1 VAA were low (4–6%) and due to anomalies other than sigle umbilical arteries (SUA). The BV abnormalities increased to 20% in the HFM with two VAA, HFM‐VATER, and VATER phenotypes with equal occurrence of SUA and other BV anomalies. The incidence of SUA was markedly increased (64%) in the sirenomelia. Heart defects rose from 22% to 40% with the increasing VAA in individual HFM patients but were less in VATER (29%) and sirenomelia (21%) patients and were attributed to complex conotruncal, and other early embryonic anomalies. Unilateral agenesis of paired organs systems occurred frequently and, possibly, can be attributed to an absent blood supply.Each phenotype of the sequence also had increased VAA, rib/vertebrae hypersegmentation, and monozygotic twinning. The variation in the incidences of malformations in the three phenotypes can be attributed to their relative location in the craniocranial organogenesis sequence of normal human embryologic development. © 1993 Wiley‐Liss, Inc.
Hereditary nodular heterotopia accompanied by mega cisterna magna
Authors: Oda Takaya , Nagai Yukiyo , Fujimoto Shinji , Sobajima Hisanori , Kobayashi Masanori , Togari Hajime , Wada Yoshiro 
Published: June 2005

AbstractThis is the first report of hereditary nodular heterotopia accompanied by mega cisterna magna. Magnetic resonance imaging documented multiple bilateral subependymal nodules, which were isointense to gray matter. This disease entity is considered a dominant trait, since the mother and two daughters, half‐sisters, were affected. © 1993 Wiley‐Liss, Inc.
Hydrops‐ectopic calcification—moth‐eaten skeletal dysplasia (Greenberg dysplasia): Prenatal diagnosis and further delineation of a rare genetic disorder
Authors: Chitayat David , Gruber Helen , Mullen Brendan J. , Pauzner David , Costa Teresa , Lachman Ralph , Rimoin David L. 
Published: June 2005

AbstractAn offspring of consanguineous parents of East‐Indian origin was found prenatally to have hydrops fetalis, short limb dwarfism, polydactyly and chondro‐osseous changes consistent with Greenberg hydrops‐ectopic calcification–moth‐eaten skeletal dysplasia (HEM) dysplasia. The radiological changes include platyspondyly with multiple extra ossification centers, extraneous calcification in the ribs, sternum, pelvis, and epiphysis, and moth‐eaten long bones. The histopathological changes included chondrocytes with dilated rough endoplasmic reticulum and inclusion bodies with homogeneous material of intermediate electron density.These findings further delineate the spectrum of this rare autosomal recessive skeletal dysplasia. © 1993 Wiley‐Liss, Inc.
Möbius sequence: Further in vivo support for the subclavian artery supply disruption sequence
Authors: Charles Steven St. , Dimario Francis J. , Grunnet Margaret L. 
Published: June 2005

AbstractMöbius sequence consists of a congenital bilateral facial nerve palsy and external ophthalmoplegia often associated with malformations of the limbs and orofacial structures. The pathogenesis of the sequence is a subject of debate. However, a new hypothesis proposes that Möbius sequence results from an interruption of embryonic blood supply (subclavian artery supply disruption sequence). Here we present an infant with bilateral facial nerve palsy (VII), external ophthalmoplegia (IV, VI), paresis of cranial nerves V, IX, X, XI, and XII, absence of the pectoralis major muscle (Poland anomaly), terminal transverse limb defects, and absence of the right diaphragm. Also, he was found to have discrete foci of brainstem calcifications in the region of the dorsal respiratory group on both CT scan and the histologic sections with microscopic evidence of diffuse brainstem “injury.” The anomalies and histopathology noted in this infant imply that vascular insufficiency prior to the sixth week of gestation involving the proximal sixth intersegmental artery may result in the manifestations presented in this report and lend further support for the existence of a subclavian artery supply disruption sequence. © 1993 Wiley‐Liss, Inc.
Variable clinical expression of mosaic trisomy 16 in the newborn infant
Authors: Devi Anne S. , Velinov Milen , Kamath M. Vasudeva , Eisenfeld Leonard , Neu Richard , Ciarleglio Leslie , Greenstein Robert , Benn Peter 
Published: June 2005

AbstractTrisomy 16 is common in embryos and fetuses aborted early during development. Mosaicism for trisomy 16 is sometimes encountered during prenatal diagnosis, particularly with chorionic villi biopsy specimens, and, until recently, was thought to be confined to the placenta. However, recently, several liveborn infants with trisomy 16 mosaicism have been described. We report on an additional liveborn infant with trisomy 16 mosaicism and compare the clinical findings with those of the previously reported cases in an attempt to delineate a mosaic trisomy 16 syndrome. Cytogenetic analysis from our patient showed that there was a different proportion of abnormal cells in different tissues and that the anomaly was undetectable in blood lymphocyte cultures. This observation was consistent with some of the previous reports. DNA analysis of parents and child was carried out using a polymorphic dinucleotide marker that maps to the long arm of chromosome 16. This analysis showed that the extra chromosome 16 in the infant was maternal in origin and suggested that the nondisjunction was probably a first meiotic division error. Our results suggest that an investigation of multiple tissues is required before concluding that mosaicism is confined to the placenta. We conclude that a finding of trisomy 16 mosaicism at prenatal diagnosis should be regarded with extreme caution. This diagnosis may be associated with a highly variable phenotype that may occasionally be compatible with extrauterine life. © 1993 Wiley‐Liss, Inc.
Cleft palate‐lateral synechiae syndrome: Report on three new patients with additional findings and evidence for variability and heterogeneity
Authors: Nakata Nancy M. K. , Guion‐Almeida M. L. , Costa Richieri 
Published: June 2005

AbstractWe report on 3 Brazilian children with short stature, microcephaly, cleft palate, lateral synechiae, and mild mental retardation. One patient was an isolated case and the other had an equally affected brother. Genetic aspects and phenotypic manifestations are compared with those of previous reports with oral synechiae. Recurrence in sibs suggests autosomal recessive inheritance. © 1993 Wiley‐Liss, Inc.
Two sibs with different phenotypes due to adjacent‐1 segregation of a subtle translocation t(4;5)(p16.3;p15.3) mat
Authors: Qumsiyeh Mazin B. , Stevens Cathy A. 
Published: June 2005

AbstractHigh‐resolution chromosome banding and in situ hybridization with combined cosmid and alphoid sequence probes were used to delineate a very small reciprocal translocation in a mother and her two children. The first child has a 46,XX,der(4)t(4;5)(p16.3;p15.3)mat and thus has a deletion of 4p16.3→pter and a duplication of 5p15.3→pter (most likely 5p15.31→pter). Clinical findings include marked growth retardation, developmental delay, seizure disorder, microcephaly, unruly hair, broad nasal tip, downturned mouth, narrow palate, 11 pairs of ribs,mild right club foot, and a deep sacral dimple. Thus, this child has only a few non‐specific manifestations of Wolf‐Hirschhorn syndrome. The second child has a 46,XY,der(5)t(4;5)(p16.3;p15.3)mat; thus a deletion of 5p15.3→pter and a duplication of 4p16.3→pter. He has failure to thrive, developmenatal delay, microcephaly, sparse hair, horizontal nystagmus, short upturned nose with flared nostrils, thin lips with overhanging upper lip, long fingers and toes, and hypertonicity. Findings in the second patient are not suggestive of cri du chat syndrome (del 5p). The mother is phenotypically normal. This translocation will be useful in mapping genes and markers on the 4p and 5p chromosomal regions. © 1993 Wiley‐Liss, Inc.
Mucolipidosis type IV: A mild form with late onset
Authors: Ries Shmuel , Sheffer Ruth N. , Merin Saul , Luder Anthony S. , Bach Gideon 
Published: June 2005

AbstractA 16‐year‐old girl is presented with mild clinical manifestations and late onset of mucolipidosis type IV (MLIV). The patient, an Ashkenazi Jew, has had minor motor difficulties and mild psychological disturbances since early childhood. Her vision began deteriorating at 12 years of age, due to bilateral corneal opacities and retinal degeneration. At present she attends a regular high school, although she is slow and scholastic achievements are lower than average. Electron microscopic examination and biochemical studies were typical for MLIV, namely, abnormal ganglioside retention and typical pattern of phospholipids accumulation. This very mild presentation of MLIV suggests a broader spectrum of heterogeneity of this disorder and raises the possibility that MLIV, at least among Ashkenazi Jews, might be more frequent than estimated hitherto, due to undiagnosed mild patients. © 1993 Wiley‐Liss, Inc.
“Holoprosencephaly‐polydactyly” (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum
Authors: Lurie Iosif W. , Wulfsberg Eric A. 
Published: June 2005

AbstractAnalysis of familial cases of the so called “holoprosencephaly‐polydactyly” (“pseudotrisomy 13”) syndrome shows that neither holoprosencephaly, nor polydactyly are obligatory manifestations of this condition. This review of previous case report shows that each of these anomalies is only found in approximately 60% of affected sibs, and therefore these sentinel abnormalities are not required for diagnosis. We propose a widening of the phenotypic spectrum of this syndrome and consideration of the use of an eponomic name, such as the Cohen‐Gorlin syndrome, or clear recognition that the sentinel findings of holoprosencephaly and polydactyly are not essential for diagnosis. We propose the following diagnostic criteria for the syndrome. The diagnostic criteria for sporadic cases would include a normal karyotype and either (1) a combination of holoprosencephaly and postaxial polydactyly with or without other characteristics, or (2) a combination of holoprosencephaly with other characteristics but without polydactyly, or (3) a combination of postaxial polydactyly, brain defects (microcephaly, hydrocephaly, agenesis of corpus callosum) and other characteristics. The diagnostic criteria for the familial cases would be the same, except that, as long as the other sibs have no abnormalities contradicting the diagnosis, a normal karyotype would be required in only one affected sib. © 1993 Wiley‐Liss, Inc.
Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make‐up (Niikawa‐Kuroki) syndrome
Authors: Franceschini P. , Vardeu M. P. , Guala A. , Franceschini D. , Testa A. , Corrias A. , Chiabotto P. 
Published: June 2005

AbstractWe report on a 13½‐year‐old patient with Kabuki make‐up syndrome and complete idiopathic precocious puberty manifested at 7½ years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make‐up syndrome in discussed. © 1993 Wiley‐Liss, Inc.
Váradi syndrome (OFD VI) or opitz trigonocephaly syndrome: Overlapping manifestations in two cousins
Authors: Cleper Roxana , Kaushchansky Arieh , Varsano Itzbak , Frydman Moshe 
Published: June 2005

AbstractWe report on 2 cousins, offspring of consanguineous matings, with multiple congenital anomalies. Square face, frontal bossing with metopic ridge, small antverted nose, flat nasal bridge, slantd palpebral fissures, and epicanthal folds contributed to an unusual appearance. Multiple bucco‐alveolar frenula and notched inferior alveolar ridges were present at birth and one had a notched uvula and submucous cleft of the hard palate. Both had congenital heart anomalies, micropenis, and cryptorchidism. Persistence of Müllerian structures was documented at necropsy in one patient. The surviving patient was mentally retarded and had unilateral central hexadactyly and partial agenesis of the corpus callosum. Bulimia and episodic hyperthermia were attributed to hypothalamic dysfunction. Results of unstimulated endocrine studies and gonadotropin releasing hormone (GnRH), and human chorionic gonadotropin (HCG) stimulation tests were normal. The manifestations of the 2 patients overlap those reported in the OFD VI and Opitz trigonocephaly syndromes. © 1993 Wiley‐Liss, Inc.
Williams–Beuren syndrome in monozygotic twins with variable expresion
Authors: Pankau Rainer , Gosch Angela , Simeoni Eva , Wessel Armin 
Published: June 2005

AbstractFive sets of monozygotic (MZ) twins with Williams–Beuren syndrome (WBS) have been reported so far. We report on an additional pair of mz twins concordant for WBS but variable expression for the syndrome. Although both faces look different monozygosity of the twins was proven by DNA fingerprint analysis. HLA, and blood group pattern. Both girls had the typical facial appearance with strabismus. Both had developmental delay, mild supravalvular aortic stenosis (SVAS), hypoplasia of both pulmonary arteries and multiple peripheral pulmonary stenoses, and inguinal hernia. Unilateral renal agenesis was seen in one of the twins. In addition the pedigree pointed to a second disorder with probably autosomal dominant inheritance. Both twins had a cleft palate, but their father had cleft lip and the grandfather as well as the greatgrandfather had cleft lip/palate. Findings of linkage analysis in pedigrees with nonsyndromic oral facial cleft were taken to suggest that a major locus for nonsyndromal oral facial cleft is located on the distal portion of chromosome 6. Linkage studies could serve as a starting point to examine a locus associated with WBS. Our observation and reports on the literature support the hypothesis that WBS is a genetic disorder. © 1993 Wiley‐Liss, Inc.