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    54 results match your criteria Elejalde Syndrome

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    Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
    Cutis 2016 Jun;97(6):E1-5
    Department of Dermatology, Hospital Clínic, University of Barcelona, Spain.
    Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' gestation with congenital hydrops fetalis associated with a chromosomal abnormality (46,XY,add[2],[p23]), hypothyroidism, hypoproteinemia, and hypogammaglobulinemia. Read More

    Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.
    Int J Trichology 2015 Jul-Sep;7(3):133-5
    Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India.
    Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Read More

    Elejalde syndrome (ES).
    Dermatol Online J 2015 Feb 22;21(3). Epub 2015 Feb 22.
    A.U.H.
    Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Read More

    Silvery grey hair: clue to diagnose immunodeficiency.
    Int J Trichology 2012 Apr;4(2):83-5
    Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India.
    Silvery hair is a common presentation of rare group of autosomal recessive disorders called Silvery hair syndromes including Griscelli syndrome (GS), Chediak-Higashi syndrome, and Elejalde syndrome. GS is characterized by a silvery grey sheen to hair, large clumped melanosomes in hair shaft, partial albinism, and variable cellular immunodeficiency. We report two cases of GS with classical clinical features and confirmatory findings by microscopic skin and hair examination. Read More

    Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.
    Eur J Pediatr 2012 Oct 19;171(10):1527-31. Epub 2012 Jun 19.
    Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
    Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are caused by defects in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic lymphohistiocytosis, and type 3 patients have only partial albinism. Read More

    Sibs with acrocephalopolydactylous dysplasia (Elejalde syndrome) in a non-consanguineous family.
    Fetal Pediatr Pathol 2012 Jun 13;31(3):140-4. Epub 2012 Mar 13.
    Department of Pediatrics, Sinai Children's Hospital, Chicago, Illinois 87020, USA.
    Acrocephalopolydactylous dysplasia, (Elejalde syndrome) is a rare condition; only six cases have been reported to date. We describe two infants born with Elejalde syndrome (ES); compare the clinical, pathological, and histological findings with those of known cases of Elejalde syndrome. The post-mortem histology study of the skin shows hyperplasia of connective tissues, a diagnostic sign in this condition. Read More

    Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations.
    Int J Trichology 2011 Jul;3(2):107-11
    Deparments of Dermatology, Venereology and Leprosy, PESIMSR, Kuppakm, Andhra Pradesh, India.
    Silvery hair is a rare clinical manifestation which is a common presentation in a group of rare syndromes which usually present in the pediatric age group together termed as "silvery hair syndrome," consisting of Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a rare autosomal recessive disorder. It is characterized by mild pigment dilution (partial oculocutaneous albinism), silvery blond hair, severe phagocytic immunodeficiency, bleeding tendencies, recurrent pyogenic infections, progressive sensory or motor neurological defects. Read More

    A role for myosin Va in cerebellar plasticity and motor learning: a possible mechanism underlying neurological disorder in myosin Va disease.
    J Neurosci 2011 Apr;31(16):6067-78
    Department of Physiology, Tokyo Women's Medical University School of Medicine, Tokyo 162-8666, Japan.
    Mutations of the myosin Va gene cause the neurological diseases Griscelli syndrome type 1 and Elejalde syndrome in humans and dilute phenotypes in rodents. To understand the pathophysiological mechanisms underlying the neurological disorders in myosin Va diseases, we conducted an integrated analysis at the molecular, cellular, electrophysiological, and behavioral levels using the dilute-neurological (d-n) mouse mutant. These mice manifest an ataxic gait and clonic seizures during postnatal development, but the neurological disorders are ameliorated in adulthood. Read More

    Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes.
    J Craniofac Surg 2009 Mar;20 Suppl 1:646-51
    Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
    Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde syndrome, hypomandibular faciocranial syndrome, and craniorhiny). Five of these syndromes are caused by fibroblast growth factor receptor (FGFR) mutations; one is caused by ras-like in rat brain 23 (RAB23) mutations; and three have Mendelian patterns of inheritance, but the molecular basis remains unknown to date. Read More

    Neurodegenerative disorders with hair abnormalities: an emergency room consultation for dermatologists.
    Int J Trichology 2009 Jan;1(1):30-2
    Departments of Dermatology, Venereology and Leprosy, SBMP Medical College, Hospital and Research Center, BLDE University, Bijapur, Karnataka, India.
    Menke's syndrome and Elejalde disease are the two neurodegenerative disorders of dermatological interest. These patients present with characteristic hair changes which may be of diagnostic value in resource-poor setup where facilities for specific genetic analysis are not available. Simple light microscopic examination of hair may be a helpful diagnostic tool to pick up such cases. Read More

    Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
    Braz J Med Biol Res 2008 Oct;41(10):839-48
    Departamento de Biologia Celular e Molecular e Bioagentes Patogênicos, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.
    Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. Read More

    Elejalde syndrome: clinical and histopathological findings in an Egyptian male.
    Genet Couns 2007 ;18(2):179-88
    Clinical Genetics Department, National Research Centre, Dokki, Giza, Cairo, Egypt.
    Elejalde syndrome is a rare disorder. An Egyptian male patient with Elejalde syndrome is presented. He had silvery hair since birth, generalized hypopigmentation, severe primary central nervous system dysfunction, and normal hematological and immunologic profiles. Read More

    Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others.
    Taiwan J Obstet Gynecol 2007 Jun;46(2):111-20
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
    Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai-Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosismental retardation syndrome of Lin and Gettig. Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders. Read More

    Elejalde syndrome--a case report.
    Am J Med Genet A 2006 Oct;140(20):2223-6
    Department of Medical Genetics, Faculty Hospital, Ostrava, Czech Republic.
    Elejalde syndrome (McKusick 200995), also known as acrocephalopolydactylous dysplasia, is a rare condition. We describe a sixth patient with this syndrome which is characterized by craniosynostosis and hyperproliferation of fibroblasts in many tissues including skin, liver, kidney, and pancreas. The cause of the syndrome is the homozygous state of an autosomal recessive mutation. Read More

    [Metabolic emergencies in the oncology patient].
    An Sist Sanit Navar 2004 ;27 Suppl 3:53-62
    Servicio de Urgencias, Hospital Virgen del Camino, Pamplona.
    Amongst the principal metabolic situations that can require emergency attention in the oncology patient we find: hypercalcaemia, hyponatraemia, tumoural lysis syndrome, lactic acidosis, hyperuricaemia, renal failure, hyperammonaemia, hypermpotasaemia, etc. Hypercalcaemia is the most frequent metabolic complication in oncology, appearing in 10-30% of these patients. It has two main mechanisms, tumoural lysis and humoural hypercalcaemia mediated by PTHrP (a protein related to parathormone). Read More

    Myosin Va is required for normal photoreceptor synaptic activity.
    J Cell Sci 2004 Sep 17;117(Pt 19):4509-15. Epub 2004 Aug 17.
    MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK.
    Myosin Va is an actin-based motor molecule, one of a large family of unconventional myosins. In humans, mutations in MYO5A cause Griscelli syndrome type 1 and Elejalde syndrome, diseases characterized by pigmentation defects and the prepubescent onset of severe neurological deficits that ultimately lead to a shortened lifespan. Mutations in the Myo5a gene in mouse cause the dilute series of mouse mutants, demonstrating that myosin Va is involved in pigmentation and neural function. Read More

    Elejalde syndrome: report of a case and review of the literature.
    Pediatr Dermatol 2004 Jul-Aug;21(4):479-82
    Department of Dermatology, Hospital das Clínicas, University of Sao Paulo Medical School, Sao Paulo, Brazil.
    Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. Read More

    Syndromic albinism: a review of genetics and phenotypes.
    Dermatol Online J 2003 Dec;9(5)
    Department of Dermatology, St. Luke's-Roosevelt Hospital Center, New York, USA.
    There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (CMBS). In the last several years the genetic defects underlying some of these syndromes have been described. Read More

    Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.
    Am J Med Genet A 2003 Feb;116A(4):329-33
    Ege University Medical School, Division of Pediatric Immunology, Izmir, Turkey.
    We present an eleven-year-old female patient who was referred to us with silvery hair, hepatosplenomegaly, neutropenia-thrombocytopenia, hypogammaglobulinemia and degenerative white matter disease, with a family history of a female sibling dying at the age of five and two living male cousins, ages 10 and 11. She had been followed up for her cytopenia the last three years and had totally recovered from a hemiplegic episode before admission. The family was of Arabic origin, and a second-degree consanguinity was reported between the parents. Read More

    Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.
    Am J Hum Genet 2002 Aug 7;71(2):407-14. Epub 2002 Jun 7.
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, 10 Center Drive, Bethesda, MD 20892-1830, USA.
    Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both. Mutations in one of two different genes on chromosome 15q can cause the different subtypes of GS. Most patients with GS display the hemophagocytic syndrome and have mutations in RAB27A, which codes for a small GTPase. Read More

    12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease).
    Am J Med Genet 2001 Feb;98(4):313-6
    Department of Pediatrics, Medical Genetics, Washington University School of Medicine, St. Louis, Missouri.
    Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes. Read More

    Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients.
    Arch Dermatol 1999 Feb;135(2):182-6
    Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico.
    Background: Silvery hair and severe dysfunction of the central nervous system (neuroectodermal melanolysosomal disease or Elejalde syndrome) characterize this rare autosomal recessive disease. Main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement (seizures, severe hypotonia, and mental retardation). Large granules of melanin unevenly distributed in the hair shaft are observed. Read More

    Elejalde syndrome: a case report.
    Am J Med Genet 1997 Apr;69(4):406-8
    Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland.
    Elejalde syndrome is a rare condition comprising a high birth weight, swollen globular body, a short neck with redundant skin folds, postaxial polydactyly, omphalocele, enlarged liver and kidneys, and renal dysplasia. The syndrome, also known as acrocephalopolydactylous dysplasia, is thought to be an autosomal recessive trait. We report on a liveborn infant with this condition. Read More

    An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia).
    Clin Dysmorphol 1994 Apr;3(2):180-4
    Department of Medical Genetics, Belfast City Hospital Trust, UK.
    We describe a fourth case of Elejalde's syndrome (acrocephalopolydactylous dysplasia) in an 18 week fetus which had the typical features of craniosynostosis, gross oedema, short limbs, postaxial polydactyly, redundant connective tissue and cystic renal dysplasia. Read More

    Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.
    Am J Med Genet 1987 Feb;26(2):391-403
    Five infants, three dying neonatally and two later in the first year of life, had renal, hepatic, and pancreatic dysplasia, a combination of abnormalities first described by Ivemark et al [1959]. The renal malformation consisted of cystic dysplasia, with abnormally differentiated ducts, deficient nephron differentiation, and glomerular cysts. The hepatic abnormality consisted of enlarged portal areas containing numerous elongated biliary "profiles," with a tendency to perilobular fibrosis. Read More

    Fetal phenotypic analysis.
    Indian J Pediatr 1986 Jul;53(4):477-488
    Genetics Section, Department of Obstetrics and Gynecology, University of Wisconsin Medical School, Milwaukee.
    Phenotypic analysis has been practised in many different ways, the most common being the recognition of normal and abnormal physical and biochemical characteristics and their patterns of inheritance. As different tools became available to analyze the characteristics of individuals the study of the phenotype and consequently of the genotype became more sophisticated. By the mid 1970's ultrasonography became a major tool in the analysis of human disease, and more recently it has contributed to the analysis of the human fetal phenotype in utero. Read More

    Determination of cholinesterase and acetylcholinesterase in amniotic fluid. Uses in prenatal diagnosis and quality control.
    Clin Genet 1986 Mar;29(3):196-203
    The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: A) reduces the cost of the procedure; B) allows for a larger number of samples to be run at a time; and C) provides for more accurate and reproducible procedures and results. Six fetuses with neural tube defects (2 with gastroschisis and 3 where one twin was dead) were detected and found to have elevated AChE, TChE and 2 bands by electrophoresis. Read More

    Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis).
    Am J Med Genet 1985 Jul;21(3):439-44
    A fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. Prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and fibulae, which were very short; the fetus had bilateral hydronephrosis. Read More

    Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis.
    Am J Med Genet 1985 Jul;21(3):417-32
    We examined 10 fetuses with nuchal cysts and compared the findings with 32 cases from the literature. Based on their characteristics, we propose that nuchal cysts are signs of four causally and pathogenetically different entities: cystic nuchal blebs present in otherwise normal fetuses as a postmortem change; 45,X fetuses who have a particular appearance and multiple congenital malformations; an apparently autosomal recessive syndrome of multiple cysts (that extend into deep muscular planes), generalized edema, cleft palate, peculiar skeletal characteristics, acutely angulated ribs (producing a bell-shaped rib cage), and shortened long bones; and in fetuses with syndromes that are inherited (multiple pterygium, Roberts) and chromosomal (trisomy 13, trisomy 21) as an unspecific sign representing both primary and secondary lesions. Read More

    Analysis of the human fetal skeleton and organs with xeroradiography.
    Am J Obstet Gynecol 1985 Mar;151(5):666-70
    We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, spina bifida, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome. Xeroradiography images the lines of ossification and epiphyses in great detail, shows ossification, and reveals abnormalities that alter bone modeling as seen in Jeune syndrome, osteogenesis imperfecta (type IV), and thanatophoric dysplasia. This technique can be used successfully to examine soft tissues and organs. Read More

    Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.
    Am J Med Genet 1984 Apr;17(4):723-30
    A newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31----35). The karyotype designation is 46,XY,dir dup(pter----31::p35----p31::p31----qter). Read More

    Visualization of the fetal face by ultrasound.
    J Craniofac Genet Dev Biol 1984 ;4(4):251-7
    A technique for detailed examination of the fetal face by ultrasound in utero is described. It is based on the systematic visualization of the facial structures in four planes--sagittal, coronal, transverse, and oblique--and on the detailed view of other facial structures. Its use has allowed the identification of normal facies in many of the 800 cases included in this study and also the identification of the abnormal facial characteristics of triploidy, cyclopia, anencephaly, Seckel syndrome, trisomy 18, and nuchal cysts syndrome. Read More

    Clinical genetics and pediatric neoplasms: pathogenetic and etiologic perspectives.
    Natl Cancer Inst Monogr 1979 May(51):7-18
    Clinical and genetic aspects of pediatric neoplasms were reviewed from pathogenetic and etiologic perspectives. Developmental principles and phenomena common to several tumors and tumor syndromes were identified, summarized, and critically evaluated. Their enumeration may be useful in future cancer research. Read More

    Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".
    Am J Med Genet 1979 ;3(1):97-108
    Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields. Read More

    Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease.
    Am J Med Genet 1979 ;3(1):65-80
    We describe a syndrome identified in three consanguineous families who had two and probably four common ancestors five generations ago. The syndrome is characterized by profound dysfunction of the central nervous system, silver-leaden colored hair, abnormal melanosomes and melanocytes, and abnormal inclusion bodies in fibroblasts, bone marrow histiocytes and lymphocytes which appear to represent abnormal lysosomal bodies. Because of the biochemical relationships between melanin-melanosomes and neuromelanin, we think that all the manifestations of the condition are related to and represent pleiotropic effects of a newly identified gene in man in its homozygous state. Read More

    Clinical cytogenetics: part 1.
    Postgrad Med 1978 Feb;63(2):179-83
    This paper is an introduction to the cytogenetic biology of man. It deals with the role of chromosome abnormalities in prenatal death, malformation syndromes, mental retardation, malformation/mental retardation syndromes, abnormalities of sex determination, sex differentiation and sexual function, cancer, and certain genetic disorders in which chromosome abnormalities are seen commonly. Down syndrome is discussed as an important and common example of a malformation/mental retardation syndrome. Read More

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