Abstract Search

hrp0082fc4.4 | Growth | ESPE2014

Short Stature, Accelerated Bone Maturation, and Early Growth Cessation due to Heterozygous Aggrecan Mutations

Nilsson Ola , Guo Michael , Dunbar Nancy , Popovic Jadranka , Flynn Daniel , Jacobsen Christina , Lui Julian , Hirschhorn Joel , Baron Jeffrey , Dauber Andrew

Background: Most children with idiopathic short stature (ISS) have a delayed bone age (BA). ISS with advanced BA is far less common. We studied three families with autosomal dominant short stature, unexplained BA acceleration, and premature growth cessation.Objective and hypotheses: To identify the genetic cause of this condition and describe its clinical spectrum.Method: Whole exome sequencing was performed in selected individuals...

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hrp0086fc14.1 | Growth : Mechanisms | ESPE2016

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

Gkourogianni Alexandra , Andrew Melissa , Crocker Melissa , Dunbar Nancy , Jorge Alexander , Lafranchi Stephen , Lalani Seema , Lebl Jan , Lin Lynda , Los Evan , Newbern Dorothee , Nowak Catherine , Olson Micah , Popovic Jadranka , Pruhova Stepanka , Quintos Jose Bernardo , Sentchordi Lucia , Baron Jeffrey , Nilsson Ola , Dauber Andrew

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...

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ESPE Abstracts

Short Stature, Accelerated Bone Maturation, and Early Growth Cessation due to Heterozygous Aggrecan Mutations

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

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