The phenylalanine residue at position 178 is highly conserved among species from fish to primates ( Web Fig. 1 ). [indianpediatrics.net]

They can also have unusually small, widely spaced teeth (microdontia). LAMM syndrome is a rare condition, although its prevalence is unknown. Approximately a dozen affected families have been identified. [ghr.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]

She presented with type 1 microtia, widely spaced small teeth ( Fig .1 ), and genu valgum. Neurological examination was normal. [indianpediatrics.net]

Case characteristics 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year. Observation Homozygous novel missense mutation in fibroblast growth factor 3. [link.springer.com]

Deafness had been diagnosed in early infancy, and for the past one year, she developed progressive genu valgum and wrist widening and leg pain. Her temporary teeth had just started falling out for the last few months. [indianpediatrics.net]

An X -ray of the patient’s pelvis showed generalized osteopenia with an ill-defined pubis. X- ray of knees showed fraying, cupping and splaying of metaphyses. [indianpediatrics.net]

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]

chin - Small / triangular nares / nostrils Occasional - Anodontia / oligodontia / hypodontia - Bifid / cleft ear lobe / ear lobe pits - Hypermetropia - Hypertelorism - Long / large / bulbous nose - Preauricular / branchial tags / appendages - Strabismus [csbg.cnb.csic.es]