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Mimouni Daniel - - 2002
Pincer nail is a rare dystrophy characterized by transverse overcurvature that increases distally along the longitudinal axis of the nail. Etiology, pathogenesis, and inheritance of this dystrophy are not clear. We report on 3 remotely consanguineous siblings (2 girls, 1 boy) with pincer nail of the toes. Case distribution in ...
Russell K L - - 2001
The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement. The vast majority of cases (99%) are sporadic, with rare familial occurrences having been reported. Most individuals with CdLS do ...
Scott B. Fleenor
The long-lipped beetle family Telegeusidae is reported for the first time from Texas and is represented in that state by the new species Telegeusis texensis Fleenor and Taber. The biology and literature of this rare genus are reviewed.
Johnston S A - - 2001
Sagittal synostosis is the most common form of craniosynostosis (i.e., premature fusion of cranial sutures). Sagittal synostosis, which is the premature fusion of the sagittal suture, occurs in 56% to 58% of all reported cases of craniosynostosis. This article describes calvarial vault remodeling, the procedure of choice at Children's Hospital ...
Hedrick H L - - 2001
Ethical conflict in the clinical setting generally arises in situation of uncertainty, ambiguity, and complexity. This report discusses 4 cases of conflict between clinicians, between clinicians and patient, and between clinicians and family. Presented in enough detail for the reader to appreciate the extent and nature of the conflict, these ...
Kurt E - - 2001
BACKGROUND: Numerous syndromes with myopia and hearing loss have been described up to now. We present a family with pathologic myopia, corneal dystrophy, and deafness distinct from these syndromes. CASES: Ten patients in the same Turkish family were evaluated by ophthalmologic, audiologic, physical, radiologic, genetic, serologic, and biochemical examinations. OBSERVATIONS: ...
Sugai K - - 2001
Nationwide survey on familial cases of West syndrome (WS) in first- and second-degree relatives was conducted by mailing a questionnaire to 64 major university hospitals, children's hospitals, and epilepsy centers in Japan, and by review of the Japanese cases in the literatures. Thirty-four familial cases, 20 males and 14 females, ...
Piccini P - - 2001
BACKGROUND: Progressive supranuclear palsy (PSP) is generally considered to be a sporadic disease; however, occasional cases of familial PSP have been described. The rarity of reports of familial PSP may be attributed in part to an inability to detect subclinical disease in affected relatives who subsequently die before symptoms clinically ...
Jardim L B - - 2001
BACKGROUND: The autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating, neurodegenerative diseases, related to fourteen different loci - SCAs 1, 2, 4, 5, 6, 7, 8, 10, 11,12,13 and 14, Machado-Joseph disease (MJD/SCA 3), and DRPLA. OBJECTIVES: (1) To verify the frequency of SCA1, ...
Balci S - - 2001
Familial microtia with external ear canal atresia and conductive deafness is rarely reported. Autosomal dominant and recessive inheritance have been suggested depending on various family reports. Cases with other malformations in addition to microtia have been described, although the microtia generally is an isolated finding. Here we report a family ...
Islam S I - - 2001
PURPOSE: To report a family with aggressive, early-onset pterygium. METHODS: We examined all living relatives (with one exception) of a Saudi Arabian family and found three members with pterygium (onset occurred when the patients were at early 20s, 6, and 4 years of age). RESULTS: Multiple attempts at surgical removal, ...
Sukontason K - - 2001
The forensic entomology case described herein is the first such case documented in Thailand. A mummified corpse of a 32-yr-old man was discovered in a forested habitat, with the larvae of six species of flies (Diptera) found in association with the corpse at the time of its discovery, i.e., those ...
Fleetwood I G - - 2001
The authors report the case of a 45-year-old woman with medically intractable trigeminal neuralgia (TN) in whom a good clinical response to partial sectioning of the trigeminal nerve was attained. No evidence of vascular compression was found intraoperatively. Several other members of her family, involving three generations, also suffered from ...
Colovic M D - - 2001
Familial hairy cell leukemia (HCL) occurs rarely. So far, 26 familial instances of HCL (in 12 families) have been reported in the literature. The consistent human leukocyte antigen (HLA) linkage could not be established in most cases of familial HCL. History of exposure to organic chemicals or employment in woodworking ...
Mehrabi D - - 2001
Waxy keratoses of childhood is a rare genodermatosis previously noted in both familial and isolated presentations. Three previous cases have been described in which the lesions appeared over the trunk and extremities. We report a case in which the waxy keratoses of childhood lesions appeared in a segmental distribution along ...
Guido Pereira
A revision of clam shrimps of the family Limnadiidae from Venezuela resulted in eight species, of which seven belong to the genus Eulimnadia and one to Metalimnadia. Eulimnadia texana, previously reported from North America and Brazil, now has a less discontinuous distribution as does E. cylindrova, previously reported from North ...
Dimitrakov J D - - 2001
A case of familial clustering of interstitial cystitis (IC) and chronic pelvic pain syndrome (CPPS), a symptom complex similar to IC that occurs in men, is reported. The proband was a 28-year-old woman with a 6-month history of severe frequency, urgency, and genital pain. After cystoscopy with hydrodistention and biopsy, ...
Hosalkar H - - 2001
Familial transmission of congenital muscular torticollis (CMT) has been reported in the literature, and postaxial polydactyly has been frequently reported in familial cases, but, to our knowledge, familial CMT with postaxial polydactyly has not been described. In this article, we report a rare case of CMT with postaxial polydactyly in ...
Aarskog N K - - 2001
Around 70% of Charcot-Marie-Tooth 1 (CMT1) cases are caused by a dominantly inherited 1.5-Mb duplication at 17p11.2-12 (CMT1A). Using photostimulated luminescence (PSL) imaging of MspI Southern blots, hybridization signals of the probe pVAW409R3a in relation to cohybridized probe SF85a, were densitometrically quantified and an RFLP allele-band ratio determined. A total ...
Glade-Bender J - - 2001
OBJECTIVE: Fetal and neonatal alloimmune thrombocytopenia (AIT) caused by feto-maternal incompatibility at the HPA-1a (PLA-1) locus is well characterized. Alloimmunization and disease caused by HPA-3a is rare. STUDY DESIGN: We conducted a retrospective analysis of all known cases of AIT caused by HPA-3a incompatibility identified at 3 major reference laboratories ...
Galli-Tsinopoulou A - - 2001
Supernumerary nipples or polythelia are developmental abnormalities located along the embryonic mammary lines. It is the most common form of accessory breast tissue malformation and usually occurs sporadically but familial aggregation has been reported. Polythelia has been reported in association with congenital malformations, in particular with renal anomalies. Polymastia in ...
Castanet M - - 2001
Although a few familial forms of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD) have been reported, this disorder is usually considered to be sporadic. Recently, we reported that 2% of CH patients with TD have a positive familial history. The aim of this study was to describe the clinical ...
Abdelsayed R A - - 2001
Gigantiform cementoma is a rare, benign fibro-cemento-osseous disease of the jaws, seen most frequently in young girls. Radiographically, it typically presents as multiquadrant, expansile, mixed radiolucent-opaque lesions that cross the midlines of the jaws. Although cases with a familial pattern are noted in a few publications, sporadic cases have been ...
Louis E D - - 2001
The proportion of essential tremor (ET) cases that can be attributed to genetic factors is unknown; estimates range from 17--100%. One possible reason for this variability is that clinic and community cases may differ with regard to family history of ET. This is because clinic patients are self-selected and represent ...
Drigo P - - 2001
Benign paroxysmal vertigo of childhood (BPV) is a paroxysmal, non-epileptic, recurrent event characterized by subjective or objective vertigo that occurs in neurologically intact children. We recorded the history and the clinical aspects of 19 cases presenting with neurological problems to the outpatient clinic at the Pediatrics Department of Padova University ...
Kim H S - - 2001
We report on two patients from one family with Marie Unna hypotrichosis who showed a diffuse hair defect which typically occurs as an isolated phenomenon. The ultrastructural hair findings consisted of longitudinal grooving of the hair shafts and a flattening in cross-section. Characteristically, scalp hair had been lost from the ...
Williams T D - - 2001
PURPOSE: The purpose of this case series is to show photographically the varying clinical appearance of granular corneal dystrophy in three generations of one family and to review the genetic basis of this and related conditions. CASE SERIES: We present cases for four affected individuals along with slitlamp biomicroscopic photographs. ...
Seven M - - 2001
The term symbrachydactyly describes syndactyly accompanied by brachydactyly. Brachydactyly is seen in middle phalanges of both hands and feet and very short in length or absent. As for syndactyly it is a cutaneous type. It has always been observed unilaterally and sporadically. A familial type of this syndrome has also ...
Tanboga I - - 2001
Incontinentia pigmenti is a syndrome characterized by both systemic and oral manifestations. Presented here are the dental, clinical, radiological, genetic and dermatoglyphic findings of a 6 year old female case and her family members. The following features were apparent: oligodontia in maxillary and mandibular arches in both dentition, peg-shaped incisors ...
Gupta S - - 2001
Pityriasis rotunda is a rare disease characterized by perfectly round to oval, sharply defined, scaly, hypo/hyperpigmented patches of variable number and size located mainly over the trunk and proximal extremities. More than 95% of the reported cases in medical literature are from three countries/ethnic populations, namely Japan, South Africa (Bantu), ...
Kurosaki M - - 2001
The Currarino triad is a unique complex of congenital caudal anomalies including anorectal malformation, sacral bone abnormality, and presacral mass. In this report, the authors describe three cases with the complete Currarino triad in a family. The authors treated a 30-year-old mother with an anterior sacral meningocele, her 1-year-old son ...
Cilla G - - 2001
From 1981 to 2000 sixty-one cases of human fascioliasis were detected in the province of Gipuzkoa (Spain), most of them during the period of parenchymal invasion. Four family outbreaks were recorded. Thirty, 15, 13 and three cases were detected during the four consecutive 5-year periods. The decrease in this infection ...
Tsukadaira A - - 2001
Monogerminal twin brothers aged 17 were admitted because of concurrent left-sided spontaneous pneumothorax. A familial background of this common disease in association with the human leukocyte antigen (HLA) has been suggested; however, the actual mode of inheritance in association with HLA typing is still uncertain. HLA analysis in this family ...
Halder A - - 2001
The objective of this study was to establish that paucibacillary leprosy also carried increased risk of infection to the community. All members of 100 families with an index paucibacillary case were clinically, bacteriologically and immunologically examined. The "comparison" group was sampled from suspect register. Fifty-six cases occurred among 944 contacts ...
Stelling J R - - 2000
OBJECTIVE: Imperforate hymen is an uncommon anomaly of the reproductive tract, occurring in approximately 0.1% of newborn females. The familial occurrence of imperforate hymen in a child, her mother, and her mother's monozygotic twin is reported. DESIGN: Case report. SETTING: Academic medical center. PATIENT(S): Three affected family members. MAIN OUTCOME ...
Christopher B. Boyko
Rhizocephalan barnacles of the genus Lernaeodiscus Müller, 1862, are uncommon external parasites of galatheid and porcellanid crabs, and most species are poorly known. Based on a thorough review of the literature and examination of new material, we summarize taxonomic and biogeographic knowledge about this genus. We report significant geographic range ...
Ayman T - - 2000
Keratoderma Palmoplantare Transgrediens or mal de Meleda (MDM) is a very rare, inherited disorder. Its name derives from the island of Meleda. Although, MDM has been reported from many different countries, only two Turkish patients with MDM have been reported in the international literature. Our six cases of MDM are ...
van Der Burgt I - - 2000
Most Noonan syndrome (NS) families are compatible with autosomal dominant inheritance with predominance of maternal transmission. Sporadic patients can be explained by new autosomal dominant mutations. Here we report four Dutch NS patients, two male and two female, each with unaffected consanguineous parents. All four had a typical NS phenotype ...
Münchau A - - 2000
Although a family history is described in approximately 20% of patients, large families with adult-onset craniocervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable ...
Wheeler C E CE - - 2000
BACKGROUND: An 8-year-old girl presented with hundreds of milia, measuring 1 to 2 mm; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms along with diffuse scalp hypotrichosis; and pinpoint palm/sole pits. Onset was in early childhood and the disease was historically ...
Ziereisen F - - 2000
We report the clinical, radiological and electrophysiological signs in two unrelated girls with the connatal form of Pelizaeus-Merzbacher disease (PMD). MRI plays an important role in the diagnosis, demonstrating the virtual absence of myelination. PMD is classically described as an X-linked leukodystrophy. Our two cases reinforce the hypothesis of a ...
Saka E - - 2000
We report a new type of migraine associated epileptic syndrome in a family: adult onset myoclonic epilepsy with benign course and migraine. Affected members of the family had myoclonic and rare generalised tonic-clonic seizures. Most of the patients, but not all, had a history of migraine. Also, some cases of ...
Yamashita I - - 2000
We investigated a consanguineous Japanese family with a complicated form of familial spastic paraplegia (FSP). Three siblings were affected, probably by autosomal recessive inheritance. All showed ataxia, subnormal mentality, congenital cataracts, and slight cerebellar atrophy on CT scans. Spastic paraplegia was predominant in 2 siblings, while ataxia was more marked ...
Middleton S B - - 2000
Desmoids are uncommon proliferations of fibroblasts that occur with disproportionate frequency in patients with familial adenomatous polyposis. They do not metastasize and are histologically benign. Despite this, the unpredictable and often aggressive nature of familial adenomatous polyposis-associated desmoids and their tendency to occur in intra-abdominal sites means that they present ...
Usta I M - - 2000
Pyloric atresia occurs in one in a million births and usually occurs sporadically. We report a family with nine affected members and review the literature for all reported familial cases. The article stresses the possibility of recurrence of pyloric atresia in the progeny of consanguinous parents, with an emphasis on ...
Sharma R - - 2000
Reticulate acropigmentation of Dohi is a rarely reported disorder especially in the Indian literature. We report our findings in eight cases belonging to two different families. It will create awareness about its occurrence in our country.
Hatchwell B J - - 2000
The decision of whether to divorce a breeding partner between reproductive attempts can significantly affect individual fitness. In this paper, we report that 63% of surviving pairs of long-tailed tits Aegithalos caudatus divorced between years. We examine three likely explanations for the high divorce rate in this cooperative breeder. The ...
Milite C P - - 2000
A rare complication of hyperthyroidism consists of sudden diffuse muscle weakness associated with severe hypokalemia. The clinical presentation is similar in most respects to familial periodic paralysis; however, the therapies proven to be effective differ in the two syndromes. A case of thyrotoxic hypokalemic periodic paralysis is presented and the ...
Schrag A - - 2000
The existence of "benign hereditary chorea" (BHC), a rare disorder of childhood-onset familial chorea without other neurologic features or progression, has increasingly been questioned, because many patients with this disorder were subsequently diagnosed with different conditions. We therefore analyzed all published reports of families with BHC and contacted their authors ...
Marshall R P - - 2000
BACKGROUND: Familial cases of cryptogenic fibrosing alveolitis (CFA) have previously been reported; however, the prevalence and genetic background of this disorder are not known. The clinical and epidemiological findings of 25 families identified within the UK are reported. METHODS: Adult pulmonary physicians in the UK were asked to identify all ...
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