bluuebunny/crossref_metadata_2025_split huggingface dataset:
MASA syndrome: Clinical variability and linkage analysis
Authors: Rietschel M. , Friedl W. , Uhlhaas S. , Neugebauer M. , Heimann D. , Zerres K. 
Published: June 2005

AbstractWe report on a family with three males with MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). One patient demonstrated spastic paraplegia and psychomotor retardation but no adducted thumbs. The described family underlines the clinical variability in MASA syndrome. DNA studies confirm linkage to DNA markers of the Xq28 region. Analysis of published cases with hereditary spastic paraplegia (HSP), where linkage studies have been carried out, emphasizes the clinical variability in MASA syndrome and other types of HSP, thus making a definite diagnosis in single cases often impossible.
Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation
Authors: Masuno Mitsuo , Cholsong Yang , Kuwahara Takashi , Shimizu Nobuo , Yamaguchi Seiji , Kawabata Ichiro , Tamaya Teruhiko , Morishita Yukio , Yoshimi Naoki , Orii Tadao 
Published: June 2005

AbstractWe describe a 20‐week‐gestation male fetus with partial dup(5p) and proximal dup(13q), 47,XY,t(5;13)(p15;q21), + der(13)t(5;13)(p15;q21) mat. This finding is attributable to second meiotic nondisjunction of the rearranged chromosome in a maternal balanced reciprocal translocation. To the best of our knowledge, there have been only 3 previous reports of a similar error in the segregation of the rearranged chromosomes. For the first time evidence has been given that this unusual segrgation is due to maternal second meiotic nondisjunction, using QFQ banding heteromorphisms. Second meiotic malsegregation should be taken into account in the consideration of reproductive problems in carriers of balanced translocations.
Nager acrofacial dysostosis: Male‐to‐male transmission in 2 families
Authors: Aylsworth Arthur S. , Lin Angela E. , Friedman Patricia A. 
Published: June 2005

AbstractWe describe 2 unrelated families with male‐to‐male transmission of Nager syndrome. All 5 affected individuals have moderate expression of the phenotype. One affected boy also has Hirschsprung disease. Although Nager acrofacial dysostosis usually occurs sporadically, both recessive and dominant inheritance have been suggested on the basis of reported familial cases. The 2 families described here with father‐to‐son transmission strongly support the hypothesis that some cases of Nager acrofacial dysostosis occur in individuals who are heterozygous for dominantly expressed, autosomal mutations.
Autosomal dominant macrocephaly: Benign familial macrocephaly or a new syndrome?
Authors: Cole T. R. P. , Hughes H. E. 
Published: June 2005

AbstractDuring the course of a clinical study of Sotos syndrome, six out of 79 probands failed to fit the phenotype of Sotos syndrome but showed remarkable similarities to each other and to a further 11 first‐ and second‐degree relatives. Clinical features in these index cases included macrocephaly, > +3.5 SD; normal or near normal birth weight and length with subsequent relative obesity; variable developmental delay; and typical face, characterised by a square outline with frontal bossing, a “dished‐out” mid‐face, biparietal narrowing, and long philtrum. All recorded bone ages were less than the 75th centile, and two were below the 10th centile. The authors believe the original diagnosis was incorrect and that these cases likely represent a previously underscribed autosomal dominant macrocephaly syndrome.
Follow‐up of Ullrich's original patient with “Ullrich‐Turner” syndrom
Authors: Wiedemann H.‐R. , Glatzl J. 
Published: June 2005

AbstractIn 1930 Ullrich published the case of the prototype patient with what is now referred to as the Ullrich‐Turner syndrome. In 1987 this patient was restudied at the age of 66 years. She permitted a cytogenetic study, a brief clinical evaluation, and reported about her life and adjustments to her condition. This patient had the striking findings of adults with the Ullrich‐Turner syndrome and an unequivocal 45,X chromosome constitution in all cells examined, showing that she indeed has the Ullrich‐Turner and not the Noonan syndrome. She reached a maximum height of 144.5 cm, had primary amenorrhea, failure of maturation of secondary sexual characteristics, and yet in many personal and professional ways had adjusted admirably to her condition.
Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: A preliminary report of a possible new syndrome
Authors: Paes‐Alves Auristela F. , Azevêdo Eliane S. , Sousa Maria das Graças F. , Almeida‐Melo Neli , Oliveira‐Filho Osório J. 
Published: June 2005

AbstractWe describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty‐four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution.
Etiologic complexities of diaphragmatic defects: Right diaphragmatic hernia, pulmonary hypoplasia/agenesis, and hydrocephalus in sibs
Authors: Bieber Frederick R. , Dawson Andrea E. , Holmes Lewis B. 
Published: June 2005

AbstractHere we review the complexities of diaphragmatic defects and describe sibs with small, right diaphragmatic defects with pulmonary hypoplasia/agenesis and hydrocephalus. Despite a poor initial prognosis, the propositus has progressed remarkably well. Antenatal sonographic study detected hydrocephalus but not the diaphragmatic defect in the sib of the propositus. Because diaphragmatic defects are most commonly found in association with other anomalies and may occur in association with chromosome anomalies careful workup of all affected infants is crucial for accurate genetic counseling.
Goldberg–Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs
Authors: Yomo Akihiro , Taira Takeyasu , Kondo Ikuko 
Published: June 2005

AbstractWe describe a brother and sister with Hirschsprung disease, hypotonia, and ptosis. Their condition resembles that in 2 sibs reported by Goldberg and Shprintzen. We conclude that the clinical characteristics in 8 reported cases with similar clinical manifestations represent a distinct autosomal recessive syndrome, Goldberg–Shprintzen syndrome.
Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini‐Holmes‐Walton syndrome
Authors: Steinlein O. , Tariverdian G. , Boll H. U. , Vogel F. 
Published: June 2005

AbstractWe report on 2 brothers with marked eye anomalies, documented with histopathological studies, and several other findings fitting the diagnosis of both the Cohen and the Mirhosseini‐Holmes‐Walton syndromes. In accordance with Norio and Raitta (Norio R, Raitta C (1986): Am J Med Genet 25:397–398) we come to the conclusion that these 2 syndromes constitute one clinical but possibly heterogeneous entity.
Prevalence of type I spinal muscular atrophy in North Dakota
Authors: Burd Larry , Short Sarah K. , Martsolf John T. , Nelson Richard A. 
Published: June 2005

AbstractIn order to establish the incidence and prevalence of type I spinal muscular atrophy (SMA Werdnig‐Hoffmann disease) in North Dakota, we reviewed the death certificates for the past 8 years. Between 1980 and 1987 the prevalence of was 1.5 per 10,000. The incidence was 1 in 6,720. This suggests a carrier frequency of 1 in 41 in North Dakota with a gene frequency of 0.0122. In North Dakota, type I spinal muscular atrophy appears to be 3 to 10 times more common than in other locations.
Monozygotic twins discordant for the major signs of McCune‐Albright syndrome
Authors: Endo Machiko , Yamada Yutaka , Matsuura Nobuo , Niikawa Norio 
Published: June 2005

AbstractWe describe a girl, one of monozygotic (MZ) twins, with endocrine dysfunction with precocious puberty, café‐au‐lait nevi and poly‐ostotic fibrous dysplasia (PFD), McCune‐Albright syndrome (MAS). After treatment with cyproterone acetate for 7 years the precocious puberty and excess growth improved but the bone‐age still remain advanced. The co‐twin had an advanced bone‐age and a small cafe‐au‐lait spot, but showed neither en‐docrinopathy nor fibrous dysplasia of bone. On the basis of the findings in these twins, together with those in previously reported fa‐milialcasesofMAS, includingtwopairsofMZ twins, a 2‐hit mutation hypothesis is proposed: a dominant mutation may be inherited and leads to PFD in offspring as the primary defect of MAS; the second mutation may occur in somatic cells leading to rnosaicism and thus resulting in MAS. This concept explains not only sporadic cases of MAS but also reported familial cases. If we assume that the second mutation occurred in an early somatic division, it would explain the discrepancy of clinical manifestations between MZ twins.
Twin fetuses with abnormalities that overlap with three midline malformation complexes
Authors: Hingorani Sangeeta R. , Pagon Roberta A. , Shepard Thomas H. , Kapur Raj P. 
Published: June 2005

AbstractTwin fetuses aborted at an estimated gestational age of 145 days were concordant for oral, facial, skeletal, and central nervous system malformations. The twins were discordant for other anomalies including cardiac defects, polydactyly, and malrotated short bowel. The combination of malformations observed overlaps with that of the oral‐facial‐digital syndrome, hydrolethalus syndrome, and Pallister‐Hall syndrome. The problem of phenotypic overlap between these syndromes is discussed.
Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome
Authors: Clementi Maurizio , Tenconi Romano , Turolla Licia , Silvan Carla , Bortotto Livio , Artifoni Lina 
Published: June 2005

AbstractThis report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other. Although the identification of two different chromosome abnormalities might be due to chance, the observation of a long arm deletion of chromosome 22 in patient 2 and of the frequent coexistence of CHARGE association and DiGeorge anomaly raise the possibility of a contiguous gene syndrome in at least some CHARGE cases.
Megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: Clinical reports and review of the literature
Authors: Annerén Göran , Meurling Staffan , Olsen Leif 
Published: June 2005

AbstractWe present 2 new patients with the megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment. MMIHS, as reported in 43 cases, is usually lethal. Most children die during the first year of life, and only 3 children survived their first year. We report the 6th pair of sibs with the disease. Overall, 17 patients reported have had sibs with MMIHS or the parents were consanguineous; 4 times the parents were first, cousins, confirming that this is an autosomal recessive disorder. The present 2 children, whose parents also were first cousins, were of different sex. They had typical MMIHS with abdominal distension due to pronounced megacystis, hydronephrosis, microcolon, and microileum, involving the distal part of the ileum, malrotation of the gut, and intestinal hypoperistalsis. Neither surgery nor medical treatment was successful and the children died at the age of 19 days and 21/2 months, respectively. There is no cure for the disease. However, a new prokinetic drug, Cisapride® might be worth trying in these cases. Prenatal ultrasound diagnosis of MMIHS might be possible.
Fryns syndrome without diaphragmatic hernia?
Authors: Willems Patrick J. , Keersmaekers Guy H. A. , Dom Koen E. , Colpaert Cecile , Schatteman Etienne , Vergote Ignace B. P. , Dumon Jan E. 
Published: June 2005

AbstractWe report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. In contrast to most patients with Fryns syndrome, diaphragmatic hernia was absent in our patient. However, the diaphragm was reduced to a fibrous web with reduced muscular component.
Familial holoprosencephaly, heart defects, and polydactyly
Authors: Hennekam Raoul C. M. , Van Noort Gerard , De La Fuente Alfred A. 
Published: June 2005

AbstractWe describe a pair of sibs with microcephaly, hypoplastic nose, cleft lip/palate, a complicated Fallot‐like cardiac defect, and holoprosencephaly and polydactyly. One sib appeared to have normal chromosomes. The healthy parents were second cousins. This constellation of signs has been described before in at least 14 other patients, and was possibly present in several others. Although there is overlap with a number of similar conditions, especially hydrolethalus syndrome, this probably represents a separate entity. Three pairs of sibs and consanguinity in 3 families point to autosomal recessive pattern of inheritance.
Molecular and cytologic studies of Ehlers‐Danlos syndrome type VIII
Authors: Biesecker L. G. , Erickson R. P. , Glover T. W. , Bonadio J. 
Published: June 2005

AbstractWe present a family with findings of Ehlers‐Danlos syndrome type VIII and a presenile appearance due to decreased subcutaneous tissue with drawn skin, defective wound healing, contractures, and thin hair. To investigate this syndrome, we studied collagen production and the growth properties of cultured fibroblasts taken from affected relatives. We could not find evidence of a collagen defect or premature senescence of cultured fibroblasts, although the fibroblasts may have a decreased growth rate. We conclude that this family has findings of EDS VIII and premature aging and propose that this overlapping phenotype is due to a single pathogenetic mechanism. Our studies of collagen production and fibroblast replication did not discern this mechanism.
Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. , van den Ende J. 
Published: June 2005

AbstractWe report on a Brazilian woman with mandibulofacial dysostosis, cleft lip/palate, vertebral anomalies, abnormally modeled femora, and bilateral tibial agenesis. The clinical aspects involving this patient strongly suggest an unreported condition. Clinical and genetic aspects are discussed.
Neural tube and neural crest: A new view with time‐lapse high‐definition photomicroscopy
Authors: Jaskoll Tina , Greenberg Gary , Melnick Michael 
Published: June 2005

AbstractThe dynamic process of neural tube formation and neural crest migration in live, unstained cultured avian embryos at Hamburger‐Hamilton (H.H.) stages 8–11 was investigated by time‐lapse cinematography using a high‐definition microscope. These studies have demonstrated that neural tube closure in the trunk region differs from that observed in the head. The cephalic neural folds elevate slowly, then make contact rapidly. Following this initial apposition, they gradually “zip‐up” in the rostrad and caudad direction. In the trunk region where the neuroepithelium bulges adjacent to the somites, the edges of the folds pulsate and forcefully touch‐retract‐touch in these bulging regions; the intersomitic epithelia retract, remain open even after more posterior somitic regions have apposed, and then close slowly. Epithelial blebs and N‐CAM antibody were observed at the leading edges of the neuroepithelia. Between the open folds only a few bridging cells were seen; they probably represent the sites of initial cell adhesion following epithelial retraction. Focusing into the developing embryo shows that neuroepithelial fusion occurs prior to surface epithelial fusion. A meshwork of synchronously pulsating neural crest cells was identified below the surface epithelium and a preliminary investigation of their initial migration was conducted.
Pelizaeus‐merzbacher disease: Clinical and DNA‐linkage study of an extended family
Authors: Johnson Virginia P. , Carpenter Nancy J. , Alan Kelts K. 
Published: June 2005

AbstractWe describe a 5‐generation family of 6 individuals with Pelizaeus‐Merzbacher disease, Type I. DNA linkage study was done to establish carrier status. Two loci, DXS162 and DXYS1, were informative in this family for carrier determination. The highest lod score is that for PMD‐DXYS1 (Z= 1.421 at θ = 0). The carrier probability can only be defined as likely or unlikely in the absence of an established recombination frequency.
Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature
Authors: Burgt Ineke Van Der , Haraldsson Asgeir , Oosterwijk Jan C. , van Essen Anthonie J. , Weemaes Corry , Hamel Ben 
Published: June 2005

AbstractWe describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 nonAmish cases are summarized.In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal involvement show extremely variable expressivity, between and within families. Two of the 3 sib‐pairs among our cases demonstrate the great difference in expression within one family. At adult age roentgenological abnormalities can be very mild, or even absent. An impairment in cellmediated immunity is present in all of our cases and seems a consistent manifestation in CHH; however, sometimos it is very subtle and without clinical symptoms.
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome
Authors: Bustos Tania , Simosa Venancio , Pinto‐Cisternas Juán , Abramovits William , Jolay Liliana , Rodriguez Luis , Fernandez Luis , Ramela Marcos 
Published: June 2005

AbstractWe describe‐27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Carribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State).The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients.We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia.
First report of management and outcome of pregnancies associated with hereditary orotic aciduria
Authors: Bensen Jeannette T. , Nelson Lewis H. , Pettenati Mark J. , Block Steven M. , Brusilow S. W. , Livingstone Laura R. , Burton Barbara K. 
Published: June 2005

AbstractTwo pregnancies in a 25‐year‐old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47, xx, inv(4)(p12q25), + der(22)t(11;22)(p23;q11) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.
True agonadism: Report of a case analyzed with Y‐specific DNA probes
Authors: Maciel‐Guerra Andréa T. , Farah Solange B. , Garmes Heraldo M. , Pinto Walter , Da Silva Joaquim M. Bustorff , Baptista Maria Teresa , Marques‐de‐Faria Antonia Paula , Guerra Gil , De Mello Maricilda P. 
Published: June 2005

AbstractWe report on a 5‐year‐old girl with a male karyotype (46, XY), severe psychomotor and physical retardation, minor anomalies, and female external genitalia with a blindly ending vagina. She has normal adrenal function, prepubertal serum gonadotropin and testosterone levels, which did not rise after hCG stimulation. On abdominal exploration no gonads were found, and only mesonephric and Müllerian remnants. She was HY positive, and no deletion was detected in the Y chromosome using 5 different probes. Although a genetic defect is not excluded, pregnancy complications suggest an environmental insult to the developing testes.
Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5
Authors: Kobayashi Tatsunori , Narahara Kouji , Yokoyama Yuji , Ueyama Satoshi , Mohri Osamu , Fujii Takao , Fujimoto Makoto , Ohtsuki Shin‐Itchi , Tsuji Kazushiro , Seino Yoshiki 
Published: June 2005

AbstractWe described a 15‐year‐old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High‐resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1→q31.1). The breakpoints in the present case and in 3 previously reported 5q‐ patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies.
Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis
Authors: Shinohara Osamu , Kubota Chidori , Kimura Mikio , Nishimura Gen , Takahashi Shori 
Published: June 2005

AbstractWe report on 5‐year‐old girl with essential osteolysis, nephropathy, corneal opacity, and valvular pulmonary stenosis. The patient was initially seen for evaluation of flexion contractures at wrists, elbows, and knees. Radiographic examination showed osteolytic changes primarily involving the hands and feet. She had persistent proteinuria; renal biopsy disclosed focal glomerulosclerosis in 1/3 of glomeruli. Electron microscopic study of skin fibroblast showed dilated and vacuo‐lated rough endoplasmic reticulum. To our knowledge essential osteolysis associated with the aforementioned disorders has not been previously reported.
Hallermann–Streiff syndrome: A review
Authors: Cohen M. Michael 
Published: June 2005

AbstractThe Hallermann–Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature. Cause is unknown; sporadic occurrence is the rule. Data presented in this review include the characteristics of pregnancy, growth and development, principal manifestations, radiographic and ophthalmological characteristics, and the results of cephalometric study. Potential complications in the syndrome are related to the narrow upper airway associated with the craniofacial configuration. Severe complications may include early pulmonary infection, respiratory embarrassment, obstructive sleep apnea, and anesthetic risk. Topics for future study are suggested.