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Brachydactyly Coloboma and Anterior Segment Dysgenesis


Presentation

  • Abstract A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented.[ncbi.nlm.nih.gov]
  • AB - A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented.[research.manchester.ac.uk]
  • Reduplicated but clear crystalline lenses were also present.[entokey.com]
  • Glaucoma is frequently present ( 67%) and often difficult to treat. It is responsible for blindness in a significant number of patients.[disorders.eyes.arizona.edu]
  • The clinical presentation of ocular coloboma is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects.[nectarmutation.org]
Short Stature
  • There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence.[mendelian.co]
  • XL megalocornea hypertelorism antimongoloid palpebral fissures short stature sydactyly XL lethal to males corpus callosal agenesis & other CNS abnormalities infantile spasms mental retardation vertebral and rib malformations chorioretinal lacunar defects[quizlet.com]
  • Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature. In most cases intelligence is normal, but some may show mental retardation.[bredagenetics.com]
  • 10171Mental retardation , X-linked, syndromic, Turner type172Mental retardation, X-linked, syndromic, ZDHHC9173Mental retardation, X-linked, with cerebellar hypoplasia174Mental retardation, X-linked with epilepsy175Mental retardation, X-linked, with short[labassure.com]

Workup

Hypertriglyceridemia
  • […] hsa04976 hsa04144 ] H00154 Hyperlipoproteinemia, type I [PATH: hsa00561 hsa03320 ] H01383 Hyperlipoproteinemia type IIa [PATH: hsa04144 hsa04913 hsa04976 ] H00156 Hyperlipoproteinemia, type III H00157 Hyperlipoproteinemia, type V [PATH: hsa03320 ] H01637 Hypertriglyceridemia[genome.jp]
  • Adrenoleukodystrophy Sitosterolemia Familial combined hyperlipidemia Cerebrotendinous xanthomatosis Familial hypercholesterolaemia Hyperlipoproteinemia, type I Hyperlipoproteinemia type IIa Hyperlipoproteinemia, type III Hyperlipoproteinemia, type V Hypertriglyceridemia[csirnotes.com]

Treatment

  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • Treatment Treatment Options: There is no known treatment.[disorders.eyes.arizona.edu]
  • No further testing or treatment necessary. Positive screen is any of the following : Results. Any of the following: (a) Pulse oximetry In either right hand or foot.[mhmedical.com]
  • Corneal opacity is usually located where there was a foreign body, deposit contains iron, asymptomatic and no treatment. Small, granular, white, oval ring.[cram.com]
  • RAINBOW: R04170: A Randomised Controlled Study Evaluating the Efficacy and Safety of Ranibizumab Compared with Laser Therapy for the Treatment of Infants Born Prematurely with Retinopathy of Prematurity.[manchestereyecare.co.uk]

Prognosis

  • May require penetrating keratoplasty by 40 and prognosis for clear graft is excellent. Bilateral, autosomal dominant, amyloid opacities in central cornea.[cram.com]
  • However, this disorder generally has a relatively poor surgical prognosis, both for glaucoma control and for corneal opacities, if present.[entokey.com]
  • Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.[geneeskundeboek.nl]
  • Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet A. 2007 Dec 15; 143A(24):3069-78. Hsieh EW, Yeh RF, Oberoi S, Vargervik K, Slavotinek AM.[pediatrics.ucsf.edu]
  • Life-long hormone replacement therapy (gluco- and mineralocorticoids for the classical forms with salt wasting, and glucocorticoids for the simple virilizing forms) requires close follow-up (pediatric through to adulthood) and has improved the prognosis[codelay.com]

Etiology

  • Terrien's Marginal Degeneration Unknown etiology, slowly progressive, uncommon marginal thinning of corneal stroma margin, advancing edge exhibits lipid deposition, corneal perforation possible, may look like early arcus, causes significant astigmatism[cram.com]

Epidemiology

  • Congenital eye malformations: clinical epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 1998;75(5):497–504. PubMed CrossRef Google Scholar 13. Boruchoff SA, Weiner MJ, Albert DM.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Greig cephalopolysyndactyly syndrome has an autosomal dominant pattern of inheritance. The foot of the patient with Greig cephalopolysyndactyly shows a partially duplicated hallux with cutaneous syndactyly of several digits.[ipfs.io]

Prevention

  • Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein.[ipfs.io]
  • Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects.[codelay.com]
  • Principal Investigator for the following Studies: PEDAL Study: R04069: Long Term Outcome of Children Enrolled in Study ROPP-2008-01 Previously Treated with rhIGF-1/rhIGFBP-3 for the Prevention of Retinopathy of Prematurity (ROP) or Who Received Standard[manchestereyecare.co.uk]
  • PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. Retin Cases Brief Rep. 2018 Aug 01. Slavotinek A, Solomon BD, Muenke M.[pediatrics.ucsf.edu]

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