• Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest cells. (medscape.com)
  • Related to its effect on eyelids, at 8.5 dpc, FOXL2 is expressed in the cranial neural crest cells (CNCCs) and cranial mesenchymal cells (CMCs) of the mesencephalon region around the developing eye until eyelid fusion (16.5 dpc). (biomedcentral.com)
  • Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. (hindawi.com)
  • Development of the vertebrate head depends on the multipotency and migratory behavior of neural crest derivatives. (biomedcentral.com)
  • This cell population is considered a vertebrate innovation and, accordingly, chordate ancestors lacked neural crest counterparts. (biomedcentral.com)
  • The identification of neural crest specification genes expressed in the neural plate of basal chordates, in addition to the discovery of pigmented migratory cells in ascidians, has challenged this hypothesis. (biomedcentral.com)
  • These new findings revive the debate on what is new and what is ancient in the genetic program that controls neural crest formation. (biomedcentral.com)
  • To determine the origin of neural crest genes, we analyzed Phenotype Ontology annotations to select genes that control the development of this tissue. (biomedcentral.com)
  • Of neural crest genes, 9% are vertebrate innovations. (biomedcentral.com)
  • Our comparative analyses show that, among different tissues, the neural crest exhibits a particularly high rate of gene emergence during vertebrate evolution. (biomedcentral.com)
  • A remarkable proportion of the new neural crest genes encode soluble ligands that control neural crest precursor specification into each cell lineage, including pigmented, neural, glial, and skeletal derivatives. (biomedcentral.com)
  • We propose that the evolution of the neural crest is linked not only to the recruitment of ancestral regulatory genes but also to the emergence of signaling peptides that control the increasingly complex lineage diversification of this plastic cell population. (biomedcentral.com)
  • Resting on this archetypal chordate body plan, unique populations of cells, the neural crest and the ectodermal placodes, evolved in craniates (referred to here as 'vertebrates' for simplicity). (biomedcentral.com)
  • The neural crest is a transient population of embryonic cells that originate at the boundary between neural plate and dorsal ectoderm. (biomedcentral.com)
  • Shortly after their dorsal specification, neural crest cells undergo an epithelial-to-mesenchymal transition, migrate, and finally, upon arrival at their destination, they give rise to a variety of cell types. (biomedcentral.com)
  • Environmental cues found throughout neural crest migratory routes play a fundamental role not only in instructing the precursor's differentiation into particular phenotypes, but also in controlling their proliferation and survival [ 7 ]. (biomedcentral.com)
  • Sir, Spinal lipomas are congenital lesions formed due to an abnormal embryonic development in the process of separation of primitive ectoderm into neuroectoderm, neural crest, and cutaneous ectoderm. (joas.in)
  • ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest. (ucsd.edu)
  • The solid black portion of each illustration represents the neural crest, and the large black dots in (c) and in (f) represent the neural crest cells. (asu.edu)
  • Neuroblastomas are aggressive, malignant tumors derived from primitive neural crest cells. (rroij.com)
  • Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. (e-apem.org)
  • Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. (e-apem.org)
  • Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. (e-apem.org)
  • However, there are overlaps in clinical and molecular features between overgrowth syndromes, thus making a specific diagnosis is often difficult. (e-apem.org)
  • This paper reviews clinical characteristics and molecular basis of typical genetic overgrowth syndromes, focusing on Sotos syndrome (OMIM#117550) and Beckwith-Wiedemann syndrome (OMIM#130650). (e-apem.org)
  • For patient safety and convenience, biopsies are usually performed on the posterior iliac crest. (bmj.com)
  • The biopsy specimen should measure at least 1.6 cm and, if it does not, consideration should be given to repeating the procedure, possibly on the contralateral iliac crest. (bmj.com)
  • In addition, the superficial fascia around the lumbodorsal area is potentially unsecured by dislocation of the ligament which follows the iliac crest. (peertechzpublications.com)
  • The surgeon then places one hand on the patient's shoulder and his opposite forearm on the patient's iliac crest. (drjaredbrownonline.com)
  • Simultaneously, the shoulder is thrust suddenly back, rotating the torso in one direction while the iliac crest is thrust down and forward, rotating the pelvis in the opposite direction. (drjaredbrownonline.com)
  • Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? (hindawi.com)
  • The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. (hindawi.com)
  • The Sturge-Weber syndrome (SWS) and Klippel-Trenaunay syndrome (KTS) were included in the phakomatoses together with neurofibromatosis, tuberous sclerosis, and von Hippel-Lindau syndrome in 1937 [ 1 ]. (hindawi.com)
  • Anteroposterior view of 2-month-old boy with Treacher Collins syndrome. (medscape.com)
  • Anteroposterior view of 2-year-old boy with Treacher Collins syndrome. (medscape.com)
  • In patients with severe manifestations of Treacher Collins syndrome in which airway inadequacy is the prominent feature after birth, a tracheostomy is performed (and may remain for several years, until the lower jaw has sufficiently grown or until alveolar distraction is performed to enable passage of air through the oral cavity). (medscape.com)
  • Operative repair in Treacher Collins syndrome is based on the anatomic deformity, and the timing of corrections depends on physiologic need and development. (medscape.com)
  • Prevalence of Treacher Collins syndrome is in the range 1 per 25,000 to 1 in 50,000 live births. (medscape.com)
  • Treacher Collins syndrome has no race predilection. (medscape.com)
  • In the vast majority of cases, Treacher Collins syndrome is clearly diagnosed at birth. (medscape.com)
  • The Treacher Collins syndrome. (medscape.com)
  • Treacher Collins syndrome: perspectives in evaluation and treatment. (medscape.com)
  • Poswillo D. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). (medscape.com)
  • Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. (medscape.com)
  • The Treacher Collins Syndrome Collaborative Group. (medscape.com)
  • Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. (medscape.com)
  • TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. (medscape.com)
  • Dixon, M. J. Treacher Collins syndrome. (medscape.com)
  • Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia-negative chronic myelogenous leukaemia. (upd-tl.com)
  • Gilles de la Tourette syndrome (GTS), a chronic, familial, neuropsychiatric disorder of unknown etiology, is characterized clinically by the presence of motor and vocal tics that wax and wane in severity over time and by the occurrence of a variety of neurobehavioral disturbances including hyperactivity, self-mutilatory behavior, obsessive compulsive behavior, learning disabilities, and conduct disorder. (baillement.com)
  • Most cases of heterochromia are hereditary, or caused by genetic factors such as chimerism, and are entirely benign and unconnected to any pathology, however, some are associated with certain diseases and syndromes. (wikipedia.org)
  • However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. (e-apem.org)
  • Among various conditions showing overgrowth, genetic overgrowth syndrome refers to a nonhormonally mediated overgrowth condition which can accompany increased height and/or head circumference, various degrees of mental retardation, or physical dysmorphisms in children 1) . (e-apem.org)
  • Isolated Absent Aortic Valves: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation. (ucsd.edu)
  • Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity. (ucsd.edu)
  • [ 2 ] On the European continent, a more common name for this condition is Franceschetti-Zwahlen-Klein syndrome, based on extensive studies of mandibulofacial dysostosis published by the Swiss ophthalmologist Franceschetti and the geneticist Klein (1949). (medscape.com)
  • Congenital Horner's syndrome - sometimes inherited, although usually acquired. (wikipedia.org)
  • In 1879, Sturge reported on a case with bilateral facial nevus, vascular deformity, and congenital glaucoma in the right eye and spasms affecting the patient's left side of the body [ 9 ]. (hindawi.com)
  • Collectively, our results indicate that alcohol-induced modifications to chromatin structure persist beyond the window of exposure, and likely contribute to the development of fetal alcohol syndrome-associated congenital abnormalities. (biomedcentral.com)
  • Intramedullary spinal cord and filum tumours-long-term outcome: single institution case series. (uib.no)
  • Tics are characterized by sterotyped, purposeless, and irregularly repetitive movements and usually can be classified as chronic motor or vocal tic disorders, transient tic disorders, or Tourette's syndrome. (baillement.com)
  • 25. Gross, Loren UFOs: A History: 1951 Gross, 1983 p. 14. (anomalist.com)
  • The earliest case regarding SWS was reported in 1860 by Schirmer. (hindawi.com)
  • The cervicogenic headache (CGH), first introduced by Sjaastad in 1983,4 had been discussed between 1860 and 1862 and described as a pain in the scalp mediated through the trigeminal nerve or the occipital nerves due to disease of the spine as documented in John Hilton's classical text, Rest and Pain 5. (theamericanchiropractor.com)
  • We describe a case of a female patient who developed significant respiratory dysfunction as the principal clinical sign. (lookformedical.com)
  • The ophthalmologist van der Hoeve was the first to describe the phakomatoses as a clinical entity of diseases including tuberous sclerosis, neurofibromatosis, and von Hippel-Lindau and Sturge-Weber syndromes [ 11 ]. (hindawi.com)
  • Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. (e-apem.org)
  • In fact, twenty-five percent of all headaches are actually "rebound" episodes triggered by the overuse of common pain medications, which include both prescription and over-the-counter drugs.7 This putative case report provides the reader with a clinical learning opportunity. (theamericanchiropractor.com)
  • In 1983 researchers in Scotland first used MRI to visualize a fetus. (asu.edu)
  • In a recent retrospective colonoscopic analyses, it was shown that 12.1% of 642 persons without symptoms of irritable bowel syndrome (IBS) , and 11.9% of those with IBS had colonic angiodysplasia. (medscape.com)
  • It is a childhood tumor occurring in infants and young children (five years and less in 90% of all cases) [ 1 , 2 ]. (rroij.com)
  • A more recent review defines CGH and describes the nociceptive pathways: A chronic, hemicranial pain syndrome in which the sensation of pain originates in the cervical spine or soft tissues of the neck and is referred to the head. (theamericanchiropractor.com)
  • Due to space limitations, disorders limited to infancy, such as apnea of prematurity, apparent life-threatening events, and sudden infant death syndrome, will not be discussed. (atsjournals.org)
  • They are a defining symptom of the classic neuropsychiatric disorder, Tourette syndrome (TS), and constitute an example of disordered human volition. (baillement.com)
  • Syndromes of the head and neck, 4th ed. (medscape.com)
  • A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. (lookformedical.com)
  • Sotos syndrome (SS, OMIM#117550), also known as cerebral gigantism, is a prenatal and postnatal overgrowth syndrome characterized by excessive growth resulting in tall stature and macrocephaly, distinctive craniofacial features, and developmental delay. (e-apem.org)
  • Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. (uib.no)
  • Oculodermal melanocytosis (nevus of Ota) Pigment dispersion syndrome - a condition characterized by loss of pigmentation from the posterior iris surface which is disseminated intraocularly and deposited on various intraocular structures, including the anterior surface of the iris. (wikipedia.org)
  • medical citation needed] Sturge-Weber syndrome - a syndrome characterized by a port-wine stain nevus in the distribution of the trigeminal nerve, ipsilateral leptomeningeal angiomas with intracranial calcification and neurologic signs, and angioma of the choroid, often with secondary glaucoma. (wikipedia.org)
  • Haploinsufficiency of the FOXL2 transcription factor in humans causes Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES), characterized by eyelid anomalies and premature ovarian failure. (biomedcentral.com)
  • he has had multiple sites of a fairly severe rheumatoid arthritis type with features of mixed connective tissue disease and some SLE with organ involvement type overlap and Sjogren's syndrome. (rheumnow.com)
  • [11] The present case was unique as in spite of the large size of the lesion the patient had only urinary incontinence and no other neurological deficits. (joas.in)
  • Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. (ucsd.edu)
  • Dr. Taco Geertsma is the founder of UltrasoundCases.info and a retired radiologist and has worked in the Gelderse Vallei hospital from January 1, 1983. (ultrasoundcases.info)
  • In the case of the colon, wall tension refers to intramural tension, the pressure difference is that between the bowel lumen and the peritoneal cavity, and cylinder radius is the radius of the right colon. (medscape.com)
  • Piebaldism - similar to Waardenburg's syndrome, a rare disorder of melanocyte development characterized by a white forelock and multiple symmetrical hypopigmented or depigmented macules. (wikipedia.org)
  • Fig. ( 1 ) below displays the cycle of events and the development of acute compartment syndrome. (openorthopaedicsjournal.com)
  • Because of typical facial dysmorphology in severe cases, it may also be diagnosed prenatally by ultrasonography. (medscape.com)
  • 1 This case requires us to determine when occupational hearing loss becomes "partially disabling" for the purpose of determining the appropriate rate of compensation for a permanent partial disability award. (findlaw.com)
  • In mild cases, with minimal expression of facial features, the syndrome may be undiagnosed at birth. (medscape.com)
  • [17] In the present case, the cord was extending till lower lumbar level, and there was a lipomatous continuation of the conus as well as filum. (joas.in)
  • Prognostic variables in oligodendroglial tumors: a single-institution study of 95 cases. (uib.no)
  • Some cases have also been found in adolescence period. (rroij.com)
  • Defects Prevention Study, a population-based case-control study, were used to examine associations between maternal self-reports of exposures and occurrence of choanal atresia in their offspring. (cdc.gov)
  • Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. (ucsd.edu)
  • Undifferentiated connective tissue disease presenting with prevalent interstitial lung disease: Case report and review of. (lookformedical.com)
  • A case report. (uib.no)
  • Here we report a case of a previously healthy 23-year-old male presented to our medicine department with a palpable abdominal mass with pain as the chief complaint. (rroij.com)
  • Lipomas arising in the lumbosacral are rare but the most common cause of tethered cord syndrome and occur in 4-8 per 100,000 of the general population. (joas.in)
  • This syndrome was named after the eminent British ophthalmologist Edward Treacher Collins (1862-1932), who described the essential features of this syndrome in a paper in 1900. (medscape.com)
  • PTs use modalities such as heat/cold, therapeutic ultrasound, electrical stimulation, iontophoresis and massage for pain syndromes. (gumuskent.net)
  • However, some features of this syndrome were probably first described by Thomson and Toynbee in 1846-1847 and later by Berry (1889), who is usually given credit for its discovery. (medscape.com)
  • These three cardinal features are each present in over 90% of cases with SS 2 , 3) . (e-apem.org)
  • Another facet of the image suggests that victims develop a "disaster syndrome," a docile, childlike condition, and as a result must be "cared for" by some protective organization, acting in a parental way. (cdc.gov)
  • It was concluded that rough surfaced titanium implants with proper dimensions installed in low density bone at the cleft region can receive immediate non functional provisional restoration with satisfactory prognosis at medium and long-term as long as strict criteria is followed for case selection. (bvsalud.org)
  • A functional neuroanatomy of tics in Tourette syndrome. (baillement.com)
  • Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. (e-apem.org)