PMID: 16481892Feb 17, 2006

Quantitative dysmorphology assessment in Fabry disease

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Markus RiesDonna Krasnewich

Abstract

1) To identify morphometric characteristics in hemizygous patients with Fabry disease a treatable lysosomal storage disorder caused by the deficiency of alpha-galactosidase A where morphological abnormalities have occasionally been mentioned, but have never been investigated systematically. 2) To devise a quantitative method to evaluate dysmorphic abnormalities in Fabry disease. Cross-sectional, single center, independent dysmorphology assessment by a panel of three clinical geneticists, based on standardized medical photography. consecutive hemizygous patients with Fabry disease (N = 38) unselected for the features assessed, mean age 38 +/- 10.8 years (range: 10-60), recruited for neuropathic pain into enzyme replacement therapy trials. The following dysmorphic features were identified (in order of descending frequency): periorbital fullness, prominent lobules of the ears, bushy eyebrows, recessed forehead, pronounced nasal angle, generous nose/bulbous nasal tip, prominent supraorbital ridges, shallow midface, full lips, prominent nasal bridge, broad alar base, coarse features, posteriorly rotated ears, and prognathism. Extremity features included broad fingertips, short fingers, prominent superficial vessels of hands, 5 digit...Continue Reading

References

Apr 1, 1979·Archives of Ophthalmology·N A SherR J Desnick
Jan 1, 1977·American Journal of Medical Genetics·J SphrangerM Cantz
Dec 1, 1989·International Journal of Oral and Maxillofacial Surgery·M M Cohen
Nov 6, 1986·The New England Journal of Medicine·D A WengerJ N Thompson
Jun 1, 1968·Lancet·F Van Hoof, H G Hers
May 25, 1967·The New England Journal of Medicine·Roscoe O BradyL Laster
Aug 1, 1983·Journal of Medical Genetics·N Gadoth, U Sandbank
Jun 20, 1998·Neurology·K E CrutchfieldRaphael Schiffmann
Jun 21, 2001·JAMA : the Journal of the American Medical Association·Raphael SchiffmannRoscoe O Brady
Jul 7, 2001·The New England Journal of Medicine·C M EngInternational Collaborative Fabry Disease Study Group
Oct 13, 2001·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·L BaccagliniJ S Brahim
Sep 25, 2003·European Journal of Pediatrics·Markus RiesM Beck
Nov 26, 2003·Muscle & Nerve·Raphael SchiffmannRoscoe O Brady
Dec 21, 2004·European Journal of Clinical Investigation·M BeckA Mehta
Feb 17, 2005·Pediatrics·Markus RiesRaphael Schiffmann

Citations

Mar 1, 2007·European Journal of Human Genetics : EJHG·Josanne Cox-BrinkmanPeter Hammond
Apr 6, 2007·Journal of the American Society of Nephrology : JASN·Raphael SchiffmannMarkus Ries
Mar 20, 2012·Molecular Genetics and Metabolism·Maria Fatima MacedoMaria Clara Sa Miranda
Jan 30, 2010·Progress in Cardiovascular Diseases·Constantinos O'Mahony, Perry Elliott
Sep 26, 2009·The Journal of Pediatrics·Ana Maria MartinsRicardo Villela Bastos
Mar 26, 2009·Pharmacology & Therapeutics·Raphael Schiffmann
Feb 24, 2016·Clinics in Dermatology·Julio A Urrets-ZavalíaAndrzej Grzybowski
Oct 14, 2008·Neurobiology of Disease·L G RodriguesM C Sá-Miranda
Oct 28, 2009·IUBMB Life·Paula A Rozenfeld
Jun 19, 2007·The British Journal of Dermatology·C H OrteuFOS Investigators
Jun 27, 2012·Clinical and Experimental Dermatology·V HogarthC H Orteu
Jan 21, 2017·Annales de dermatologie et de vénéréologie·F Stephan, R Haber
Mar 21, 2017·Journal of Inherited Metabolic Disease·Markus Ries
Jul 7, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·James J MillerNancy M Dahms
Dec 10, 2015·British Journal of Pharmacology·Stephen Ph AlexanderCGTP Collaborators
Jan 22, 2013·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Melanie D Sivley
Jun 8, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Matthias ZielonkaMarkus Ries
Oct 24, 2009·Anais Brasileiros De Dermatologia·Paula BoggioMargarita Larralde

Related Concepts

Fabry Disease
Face
Fingers
Chest
Incidence Studies
Intraobserver Variation
Disease Clustering

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Systemic Juvenile Idiopathic Arthritis

Systemic juvenile idiopathic arthritis is a rare rheumatic disease that affects children. Symptoms include joint pain, but also fevers and skin rashes. Here is the latest on this disease.

Chromatin Regulation and Circadian Clocks

The circadian clock plays an important role in regulating transcriptional dynamics through changes in chromatin folding and remodelling. Discover the latest research on Chromatin Regulation and Circadian Clocks here.

Central Pontine Myelinolysis

Central Pontine Myelinolysis is a neurologic disorder caused most frequently by rapid correction of hyponatremia and is characterized by demyelination that affects the central portion of the base of the pons. Here is the latest research on this disease.

Myocardial Stunning

Myocardial stunning is a mechanical dysfunction that persists after reperfusion of previously ischemic tissue in the absence of irreversible damage including myocardial necrosis. Here is the latest research.

Pontocerebellar Hypoplasia

Pontocerebellar hypoplasias are a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. Here is the latest research on pontocerebellar hypoplasia.

Cell Atlas Along the Gut-Brain Axis

Profiling cells along the gut-brain axis at the single cell level will provide unique information for each cell type, a three-dimensional map of how cell types work together to form tissues, and insights into how changes in the map underlie health and disease of the GI system and its crosstalk with the brain. Disocver the latest research on single cell analysis of the gut-brain axis here.

Chronic Traumatic Encephalopathy

Chronic Traumatic Encephalopathy (CTE) is a progressive degenerative disease that occurs in individuals that suffer repetitive brain trauma. Discover the latest research on traumatic encephalopathy here.