Our patient presented with congenital deafness, hypotonia, dysphygia and ataxia in early childhood.[ncbi.nlm.nih.gov]
Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year.[ncbi.nlm.nih.gov]
Microdontia was the most constant finding that was present in all affected individuals. Michel aplasia was present in most cases although other severe inner ear anomalies were detected in some individuals, especially with the p.R95W mutation.[miami.pure.elsevier.com]
Possibility of X-linked form was unlikely as most affected patients have early presentation incontrast to this patient who presented with deformities at 13 years of age.[indianpediatrics.net]
Each diagnosis includes clinical presentation(s) of affected patients, the best sequences for imaging analysis, expected imaging sequences (in both common and uncommon presentations), and imaging examples of key features.[books.google.com]
The acronym “LAMM syndrome” was used first in 2007 by Tekin et al. with the identification of a homozygous mutation in FGF3 in three unrelated Turkish families including nine affected individuals [ 2 ].[omicsonline.org]
Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genuvalgum for last one year.[ncbi.nlm.nih.gov]
She presented with type 1 microtia, widely spaced small teeth ( Fig .1 ), and genuvalgum. Neurological examination was normal.[indianpediatrics.net]
Case characteristics 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genuvalgum for last one year. Observation Homozygous novel missense mutation in fibroblast growth factor 3.[link.springer.com]
Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive External references: 1 OMIM reference - 1 MeSH reference: C548011 Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis[csbg.cnb.csic.es]
Upon oral treatment with folinic acid the boy regained consciousness while the epilepsy could be successfully managed only with additional pyridoxal 5'-phosphate (PLP).[ncbi.nlm.nih.gov]
Evaluation of relatives at risk: It is recommended that sibs have hearing screening to allow early diagnosis and treatment of hearing impairment. Genetic counseling. LAMM syndrome is inherited in an autosomal recessive manner.[ncbi.nlm.nih.gov]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
The aforementioned t-test was also used to compare pre-treatment and post-treatment levels of 5MTHF in the cerebrospinal fluid in the group with cerebral folate deficiency and our previously established reference data obtained from the 99 normal controls[nejm.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
The central role of FGF23 in its etiology and its structural similarity to FGF3 lead us to hypothesize that the mutation found in FGF3 could also be involved in the pathogenesis of hypophosphatemic rickets in this patient.[indianpediatrics.net]
Etiology Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Genetic counseling Transmission is autosomal recessive.[orpha.net]
Prevention of Secondary Complications Regardless of its etiology, uncorrected hearing loss has consistent sequelae: Auditory deprivation through age two years is associated with poor reading performance, poor communication skills, and poor speech production[ncbi.nlm.nih.gov]
Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
Summary Epidemiology It has been described in 6 families to date.[orpha.net]
Epidemiology [ edit ] Michel aplasia is a rare disease. It was first described by P. Michel in the year 1863.[en.wikipedia.org]
Additional information is included concerning the pathophysiology and pathology of the disorders being discussed as well as basic information concerning the causative genes (when appropriate).[books.google.com]
Unfortunately, we could not have access to cells from the patient and could not perform further analysis at the RNA or protein level, then preventing to exclude this possibility.[omicsonline.org]
Prevention (of secondary complications) [ edit ] Presence of inner ear abnormalities lead to Delayed gross development of child because of balance impairment and profound deafness which increases the risk of trauma and accidents.[en.wikipedia.org]
Blocking autoantibodies, if present, prevent the binding of [ 3 H]folic acid to folate receptors.[nejm.org]