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ey0016.4-8 | New Perspectives | ESPEYB16

4.8. Multigene sequencing analysis of children born small for gestational age with isolated short stature

BL Freire , TK Homma , MFA Funari , AM Lerario , GA Vasques , AC Malaquias , IJP Arnhold , AAL Jorge

To read the full abstract: J Clin Endocrinol Metab. 2019;104:20232030.A child born with birth weight and/or birth length less than 2 SDS below the mean for gestational age is defined as SGA [1]. This definition implies that rather than a specific diagnostic group, SGA children are a heterogenous population with different etiologies, growth patterns and metabolic outcomes. Most SGA ...

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ey0017.4-2 | Important for clinical practice | ESPEYB17

4.2. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing

TK Homma , BL Freire , RS Honjo Kawahira , A Dauber , MFA Funari , AM Lerario , MY Nishi , EV Albuquerque , GA Vasques , PF Collett-Solberg , SM Miura Sugayama , DR Bertola , CA Kim , IJP Arnhold , AC Malaquias , AAL Jorge

To read the full abstract: J Pediatr. 2019 Dec;215:192198.Identifying the diagnosis in children with syndromic short stature and those with recognized genetic growth disorders is often challenging, as they may share many clinical features (1)(2). The candidate gene approach has many limitations in unveiling the genetic cause. Therefore, whole exome sequencing (WES) has been proposed to improve the diagnostic rate in children with short sta...

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ESPE Yearbook of Paediatric Endocrinology

4.8. Multigene sequencing analysis of children born small for gestational age with isolated short stature

4.2. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing

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