bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenic and nonpathogenic deletions in two families with Duchenne muscular dystrophy
Authors: Hart Kevin A. , Abbs Stephen , Bobrow Martin 
Published: June 2005

AbstractTwo deletions detected within the Duchenne/ Becker muscular dystrophy (D/BMD) gene of normal male members of two DMD families were both independent, nonpathogenic deletions located in a large intron in the XJ region(DXS206) toward the 5′ end of the gene [Burghes et al., 1987]. Investigation of the surrounding exons revealed no exon deletions or duplications. The simplest interpretation of these observations is that the deletions are entirely intronic and do not cause perturbation of the gene product, resulting in a normal phenotype. The disease phenotypes in the affected males in these two families are caused by exon deletions remote from this intron. Some caution is therefore indicated in using genomicdeletions for clinical prediction.
Dominant inheritance of Wiedemann‐Beckwith syndrome: Further evidence for transmission of “unstable premutation” through carrier women
Authors: Aleck Kirk A. , Hadro Teresa A. 
Published: June 2005

AbstractWe report on a 4‐generation family in which the Wiedemann Beckwith syndrome (WBS) was transmitted as an autosomal dominant trait. The condition occurred in sibs born to carrier women and in children born to affected mothers. Presumptive carrier women were examined for microsigns of WBS in an attempt to determine whether extreme variability of the disorder, rather than an unaffected carrier state, was present. No minor stigmata of the WBS could be found in the presumptive carriers. Our study supports a previous hypothesis that in some families the WBS can be transmitted in a 2‐step process involving first an unstable premutation and then a “telomutation.” Because only females appear to be transmitters of the telomutation, an ovum‐mediated sex‐associated factor may be involved in the process of telomutation.
Femoral duplication: A case report
Authors: Bodurtha Joann , Coutinho Maria , Benator Richard , Nogi Jay , Sholley Milton , Nance Walter E. 
Published: June 2005

AbstractFemoral duplication is a rare anomaly that has been described as an isolated entity and in association with other congenital defects. Since the description by Erlich in 1885, 24 additional cases have been reported. The present report concerns a 34‐week black female infant with apparent bilateral femoral duplication associated with a meningocele and abdominal, genitourinary, vertebral, and lower‐limb anomalies. The cause is unknown. Femoral duplication is a developmental field defect, hence causally heterogeneous.
Humero‐radio‐ulnar synostosis: A new case and review
Authors: Hersh Joseph H. , Joyce Margie R. , Profumo Laura E. 
Published: June 2005

AbstractWe report on a patient with humero‐radio‐ulnar synostosis and upper limb oligoectrosyndactyly. All cases have been sporadic including discordance in monozygotic twins, and similar findings have occurred in thalidomide embryopathy. Further observations of similarly affected patients are needed to elucidate the nature of this upper limb defect and its cause.
Aplasia of the tibia with bifurcation of the femur and ectrodactyly: Evidence for an autosomal recessive type
Authors: Kohn Gertrude , El Shawwa Raghda , Grunebaum Michael 
Published: June 2005

AbstractTwo unrelated families are presented, each with 2 affected offspring with bifid femur, absent tibia, and ectrodactyly. The healthy parents are consanguineous. It is postulated that this combination of malformations is causally heterogenous with both autosomal dominant and autosomal recessive modes of inheritance; hence, it is established as a developmental field defect.
Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs
Authors: Carnevale Franco , Krajewska Grazyna , Fischetto Rita , Greco Maria Grazia , Bonvino Angelica 
Published: June 2005

AbstractWe report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.
Brachyolmia: Radiographic and genetic evidence of heterogeneity
Authors: Shohat M. , Lachman R. , Gruber H. E. , Rimoin D. L. 
Published: June 2005

AbstractBrachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones. As a result of a study of 11 patients from 7 different families and a review of the literature we propose that there are 3 and possibly 4 different types of brachyolmia:

Hobaek type—an autosomal recessive condition with universal platyspondyly, irregular, and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. Rectangular and elongated vertebral bodies are seen on lateral views of the spine, which become more pronounced with age.Toledo type—radiographically similar to Hobaek type but also associated with corneal opacities and precocious ossification of costal cartilage. It is uncertain as to whether this represents variability or heterogeneity.
Maroteaux type—an autosomal recessive disorder that is distinguished from Hobaek type by rounding of the anterior and posterior vertebral borders with less elongation on lateral view and less lateral extension on A.P. view. This type may be associated with precocious calcification of the falx cerebri, and minor facial anomalies.
Dominant type—a previously underscribed form which we have observed in a mother and her son. This type has the most severe vertebral changes with flattening and irregularities of the cervical spine.

These clinical, radiological, and genetic differences suggest genetic heterogeneity in this group of platyspondylic disorders.
Osteodysplastic primordial dwarfism: Report of a further case with manifestations similar to those of types I and III
Authors: Haan E. A. , Furness M. E. , Knowles S. , Morris L. L. , Scott G. , Svigos J. M. , Vigneswaren R. 
Published: June 2005

AbstractWe describe a male infant with microcephalic osteodysplastic primordial dwarfism. The clinical and radiological manifestations most closely resemble those of the patient described by Winter et al. to have manifestations overlapping with both osteodysplastic primordial dwarfism types I and III. The classification of the patient within the spectrum of osteodysplastic primordial dwarfism is discussed and the distinctive neuropathology documented.
In utero thrombosis and neonatal gangrene in an infant of a diabetic mother
Authors: Van Allen Margot I. , Jackson J. Craig , Knopp Robert H. , Cone Richard 
Published: June 2005

AbstractWe report an infant of a diabetic mother (IDM) with in utero brachial artery thrombosis and neonatal gangrene to illustrate that there may be an increased risk for arterial as well as venous thrombosis in IDMs. The diagnosis of brachial artery thrombosis was made by using Doppler sonography flow studies and was confirmed with autopsy. The postnatal period was complicated by aortic and mesenteric artery thrombosis, with subsequent necrotizing enterocolitis, renal infarction, and death. Gangrene of a limb presenting at birth is rare, with 32 individuals reported in the literature, including this patient. Twenty‐two percent (7/32) of the infants with peripartum limb gangrene were IDMs. This implies a marked increase in arterial thrombosis in IDMs over the general population. Changes in coagulation factors have been reported in newborn IDMs with poor control of maternal diabetes. Increased clotting and decreased fibrinolysis found in diabetics may lead to arterial thrombosis in IDMs in utero and postnatally. Use of anticoagulants in at‐risk infants should be considered to prevent further thrombosis postnatally. Additionally, IDMs may be at increased risk for thrombotic complications from umbilical artery catheter. In utero thrombosis of the brachial artery may be one mechanism which leads to limb reduction defects in IDMs.
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy
Authors: Bertini E. , Gadisseux J. L. , Palmieri G. , Ricci E. , Capua M. Di , Ferriere G. , Lyon G. 
Published: June 2005

AbstractWe report the clinical, electrophysiological, and morphological observations of five infants with an unusual form of spinal muscular atrophy (SMA). In these infants muscular weakness and atrophy were initially restricted to the distal limbs and this pattern was associated with paralysis of the diaphragm. The difference between the clinical manifestations of this syndrome and the classical form of infantile spinal muscular atrophy (SMA type 1) as well as other congenital hereditary neuropathies is discussed.
Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: Expanded spectrum of Lowry‐Wood syndrome?
Authors: Hankenson Lori G. , Ozonoff Maer B. , Cassidy Suzanne B. 
Published: June 2005

AbstractWe report on a brother and sister with epiphyseal dysplasia and coxa vara, microcephaly, and short stature. This constellation of findings is similar to that found in the Lowry‐Wood syndrome (Epiphyseal dysplasia, microcephaly, short stature, and mental retardation). In the sibs we describe, mental retardation is not apparent, and they have the additional finding of developmental coxa vara. Despite these 2 exceptions, this family probably represents the same disorder described by Lowry and Wood (Clinical Genetics 8:269–274,1975), and serves to expand the spectrum of the syndrome to include coxa vara. It is also possible that these sibs represent a previously undescribed syndrome, most likely with autosomal recessive inheritance.
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations
Authors: Kääriäinen Helena , Ryöppy Soini , Norio Reijo 
Published: June 2005

AbstractA new malformation syndrome is described in a pair of sibs and 3 sporadic patients. The characteristic manifestations are radial aplasia or hypoplasia, absence of thumbs, absent or hypoplastic patellae, dislocations of joints, unusual face, cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence. Recessive inheritance seems the most plausible cause. The acronym RAPADILINO syndrome is proposed.
Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma
Authors: Chitayat David , Kalousek Dagmar K. , Bamforth J. Stephen 
Published: June 2005

AbstractWe studied the structure and number of lymph vessels in 12 spontaneously aborted previable fetuses with posterior cervical cystic hygroma and generalized edema of variable origin (monosomy X, trisomy 21, trisomy 13, suspected Noonan syndrome, and lethal multiple pterygium syndrome) and compared them to 5 therapeutically aborted, apparently normal fetuses.We found that in the non‐45,X fetuses with cystic hygroma and edema the lymphatic vessels at all studied sites were dilated and appeared increased in number. The 4 5 3 fetuses had no recognizable lymphatic vessels in the edematous cutaneous tissue of the limbs, and only occasional dilated vessels in the wall of the nuchal cystic hygroma and in the lungs. These findings may be useful in differentiating between monosomy X and other conditions causing nuchal cystic hygroma in specimens in which the fetus was incomplete andlor cytogenetic study could not be done.
Autosomal dominant microcephaly with mental retardation
Authors: Bawle E. , Horton M. 
Published: June 2005

AbstractA 3‐year‐old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep‐set eyes, short philtrums, and a “beaked” nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3‐year‐old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosomes are normal. This appears to be a first report of a autosomal dominant form of microcephaly associated with mild to moderate mental retardation in contrast to absent or mild mental retardation described in earlier reports.
Cystic renal disease and cardiovascular anomalies
Authors: Evans Jane A. , Stranc Leonie C. 
Published: June 2005

AbstractRenal cysts are a relatively common but heterogeneous group of disorders that are increasingly being diagnosed prenatally. Prognosis depends on the type of cystic disease, extent of involvement, and the presence or absence of other anomalies. Czeizel (American Journal of Medical Genetics [Supplement] 2:17–21,1986) indicated that a cystic kidney‐cardiovascular malformation association exists. To investigate this further a population based study of renal cysts and associated anomalies in Manitoba children born between 1979 and 1983 was carried out.A total of 46 children with renal cysts were identified from multiple sources (1 per 1,824 total births). The most common types were multicystic dysplasia (1/3,226), cystic dysplasia due to lower urinary tract obstruction (1/ 13,932), and infantile polycystic kidney disease (1/20,973). Other anomalies were seen in 72% of cases and 33% had cardiovascular anomalies. A further 11% had patent ductus arteriosus or single umbilical artery. The incidence of cardiovascular defects excluding patent ductus arteriosus or single umbilical artery was 1/174 in the total birth cohort and our data confirmed a strong association of renal cysts with cardiovascular defects in children with malformations (P < 0.001).The association of cardiac defects with unilateral multicystic dysplasia is especially important. Of the 14 children ascertained with unilateral dysplasia, 4 (28%) had major cardiac defects leading to early death in all instances. Only one of the 4 had additional defects. Unilateral multicystic dysplasia with a normal contralateral kidney usually has a good prognosis. However, recognition of this association with major cardiac defects should alert clinical geneticists to the need for careful assessment of the fetal heart and other systems before counselling high expectations for an optimistic outcome when such cases are diagnosed prenatally.
Lissencephaly, abnormal lymph nodes, and T‐cell deficiency in one patient
Authors: Krawinkel M. B. , Ernst M. , Feller A. , Flad H. D. , Mueller‐Hermelink H. K. , Ulmer A. J. , Schaub J. 
Published: June 2005

AbstractWe report on a child with lissencephaly type I, abnormal lymph nodes, and immunodeficiency, associated with recurrent infections, autoimmune disease, spastic tetraplegia, and psychomotor retardation. Diagnostic measures included cranial computer tomography (CT) and magnetic resonance imaging (MRI) scanning, several in vivo and in vitro immunological tests, and histology of skin, lymph nodes, and liver including electron microscopy and immunohistology. Despite medical supervision, the child died at age 4 years.A common pathogenetic mechanism of defective migration of neurons and the dysmaturation of lymph nodes is most probable. The T‐cell deficiency may represent a common defect of the development of both neuronal and lymphatic tissue, as the six‐layered cerebral cortex and the B‐cell areas in lymph nodes develop at about the same gestational age. A common defect could also be assumed involving genetically determined cell surface proteins.
Cardio‐facio‐cutaneous (CFC) syndrome: Report of a new patient
Authors: Chrzanowska Kristina , Fryns Jean‐Pierre , Van den Berghe Herman 
Published: June 2005

AbstractWe describe a girl with the cardio‐facio‐cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical “atrophy,” submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome.
A new autosomal recessive disorder resembling Weaver syndrome
Authors: Teebi Ahmad S. , Sundareshan T. S. , Hammouri Mousa Y. , Al‐Awadi Sadika A. , Al‐Saleh Qasem A. 
Published: June 2005

AbstractMost reported cases of Weaver syndrome are sporadic, and the mode of inheritance is still unclear. We describe two (male and female) sibs born to consanguineous Bedouin parents with manifestations resembling Weaver syndrome. Both sibs had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse low‐pitched cry. One of them had an accelerated harmonic skeletal maturation. Differentiating features from Weaver syndrome are discussed, and autosomal recessive inheritance is suggested.
Microdeletion in the X‐chromosome and prenatal diagnosis in a family with Norrie disease
Authors: Zhu Danping , Antonarakis Stylianos E. , Schmeckpeper Barbara J. , Diergaarde Paul J. , Greb Anne E. , Maumenee Irene H. 
Published: June 2005

AbstractWe have studied a three‐generation family in which Norrie disease is segregating and have performed prenatal diagnosis on the fetus of an obligatory carrier. Deletions at loci DXS7 and DXS77 defined by probes L1.28, L1.28‐p59, and pX59 were detected in the affected male. DNA studies of chorionic villus biopsy material indicated that the male fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months.
Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia
Authors: Hartwig N. G. , Vermeij‐Keers Chr. , Bruijn J. A. , van Groningen K. , Ottervanger H. P. , Holm J. P. 
Published: June 2005

AbstractA case of lethal multiple pterygium syndrome is presented. Besides the anomalies usually associated with this syndrome, cardiac hypertrophy and connective tissue abnormalities were observed. On the basis of these observations, we suggest that an abnormally fragile collagen constitution is the principal disorder in the lethal multiple pterygium syndrome, which is responsible for the pathogenesis of fetal immobility, pterygia, and many of the associated anomalies.
Defective lysosomal release of vitamin B12 (cblF): A hereditary cobalamin metabolic disorder associated with sudden death
Authors: Shih Vivian E. , Axel Sarah M. , Tewksbury John C. , Watkins David , Cooper B. A. , Rosenblatt David S. 
Published: June 2005

AbstractHere we report on a girl who presented with failure to thrive, developmental delay, minor facial anomalies, stomatitis, skin rashes, macrocytosis, mild homocystinemia‐(uria), and methylmalonic acidemia(uria). Fibroblast studies showed abnormal intracellular cobalamin (vitamin B12) metabolism. Reduced incorporation of 14C from [14C] propionate and [14C] methyltetrahydrofolate into TCA‐precipitable macromolecules reflected decreased synthesis of adenosylcobalamin and methylcobalamin respectively. The diagnosis of cblF mutation was established by demonstrating the accumulation of unmetabolized free cyanocobalamin in fibroblasts and by lack of genetic complementation with fibroblasts from the only other known cblF patient. The defect is in the lysosomal release of endocytosed cobalamin. Administration of hydroxocobalamin resulted in clinical and biochemical improvement but sudden death occurred at age 5 months. The absence of brain pathological changes suggests that early treatment may prevent the neurological complications in cobalamin co‐factor deficiency.
Ullrich‐Turner syndrome in an XY female fetus with deletion of the sex‐determining portion of the Y chromosome
Authors: Blagowidow Natalie , Page David C. , Huff Dale , Mennuti Michael T. 
Published: June 2005

AbstractHere we describe a fetus in whom a cystic hygroma was detected by ultrasound during the second trimester. Autopsy demonstrated a female fetus with manifestations of Ullrich–Turner syndrome, including gonadal dysgenesis, generalized lymphedema, and preductal aortic coarctation. Surprisingly, the karyotype was 46,XY, with no evidence of mosaicism for a 45,X cell line. Y‐DNA hybridization studies demonstrated a deletion of the sex‐determining segment of the short arm of the Y chromosome. This is the first report, in a fetus, of XY Ullrich‐Turner syndrome due to a Y chromosome deletion.
VACTERL with hydrocephalus: Further delineation of the syndrome(s)
Authors: Evans Jane A. , Stranc Leonie C. , Kaplan Paige , Hunter Alasdair G. W. 
Published: June 2005

AbstractCentral nervous system defects including hydrocephalus are rare in cases of VACTERL association. However, recent reports suggest that there may be one or more disorders in which this combination of anomalies occurs. We report 8 additional patients including a recurrence in a previously described family, review the literature, and provide some population‐based data of VACTERL‐type anomalies in hydrocephalus cases. VACTERL with hydrocephalus appears distinct from hydrolethalus and similar conditions but is itself heterogeneous. The pattern of inheritance of the disorders involved is unclear, but autosomal recessive and sex‐linked forms likely occur. The prognosis of VACTERL cases with hydrocephalus appears much poorer than for those with classic VACTERL anomalies, and the recurrence risk may be higher than for either the VACTERL association or isolated hydrocephalus.
Intermittent thrombocytopenia and absent radii: Report of a patient with additional unusual manifestations
Authors: van Haeringen Arie , Veenstra Foekje , Maaswinkel‐Mooij Petra D. , van de Kamp Jacques J. P. 
Published: June 2005

AbstractWe report on a boy with absent radii and intermittent thrombocytopenia. He has many other manifestations of the thrombocytopenia absent radius (TAR) syndrome but in addition has manifestations not previously described: palatoschisis of the soft palate, subcricoid stenosis, duodenal atresia and extreme sensitivity of chromosomes to X‐rays. Our patient could either represent a unique condition or unusual variability of TAR syndrome.
Hereditary retinal vasculopathy with cerebral white matter lesions
Authors: Gutmann David H. , Fischbeck Kenneth H. , Sergott Robert C. 
Published: June 2005

AbstractWe report on a syndrome of progressive visual loss and leukoencephalopathy affecting several relatives. Affected individuals had evidence of retinal vasculopathy on fluorescein angiogram and periventricular white matter lesions on brain magnetic resonance imaging. The clinical manifestations in this family suggest transmission of an autosomal dominant vasculopathy affecting both retinal and intracranial vessels.
Otocephaly‐midline malformation association
Authors: Hersh Joseph H. , McChane Richard H. , Rosenberg Ellen M. , Powers William H. , Corrigan Cynthia , Pancratz Leslie 
Published: June 2005

AbstractOtocephaly (“agnathia”) is a developmental field complex with structural defects limited to the craniofacial region. Previously, two infants with otocephaly, situs inversus totalis, renal defects, and vertebral and rib abnormalities were reported by Pauli et al. [Teratology 23:85–93, 1981]. We describe a similarly affected infant male, supporting the existence of this midline malformation association. A generalized disturbance in cell migration from the primitive streak may be its pathogenesis. A search for additional patients among cases of otocephaly may establish its prevalence, patterns of associated anomalies, and cause.
Holoprosencephaly: A developmental field defect
Authors: Johnson Virginia P. 
Published: June 2005

AbstractHoloprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Etiologic heterogeneity is well documented. Chromosomal, genetic, and teratogenic factors have been implicated. Recognition of holoprosencephaly as a developmental field defect stresses the importance of close scrutiny of relatives for mild forms such as single median incisor, hyptelorism, bifid uvula, of potuitary deficiency.