Achondroplasia: a comprehensive clinical review
RM Pauli - Orphanet journal of rare diseases, 2019 - Springer
Achondroplasia is the most common of the skeletal dysplasias that result in marked short
stature (dwarfism). Although its clinical and radiologic phenotype has been described for …
stature (dwarfism). Although its clinical and radiologic phenotype has been described for …
Achondroplasia
WA Horton, JG Hall, JT Hecht - The Lancet, 2007 - thelancet.com
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting
more than 250 000 individuals worldwide. More than 95% of patients have the same point …
more than 250 000 individuals worldwide. More than 95% of patients have the same point …
A contemporary review of obstructive sleep apnea
F Ralls, L Cutchen - Current opinion in pulmonary medicine, 2019 - journals.lww.com
Untreated sleep disordered breathing (obstructive sleep apnea and/or central sleep apnea)
are an important cause of medical mortality and morbidity. OSA is characterized by recurrent …
are an important cause of medical mortality and morbidity. OSA is characterized by recurrent …
Health supervision for people with achondroplasia
J Hoover-Fong, CI Scott, MC Jones, E Chen… - …, 2020 - publications.aap.org
Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by
rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical …
rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical …
Health supervision for children with achondroplasia
TL Trotter, JG Hall, Committee on Genetics - Pediatrics, 2005 - publications.aap.org
Achondroplasia is the most common condition associated with disproportionate short
stature. Substantial information is available concerning the natural history and anticipatory …
stature. Substantial information is available concerning the natural history and anticipatory …
Epidemiology of achondroplasia: A population‐based study in Europe
Achondroplasia is a rare genetic disorder resulting in short‐limb skeletal dysplasia. We
present the largest European population‐based epidemiological study to date using data …
present the largest European population‐based epidemiological study to date using data …
Current care and investigational therapies in achondroplasia
S Unger, L Bonafé, E Gouze - Current osteoporosis reports, 2017 - Springer
Abstract Purpose of Review The goal of this review is to evaluate the management options
for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is …
for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is …
Current knowledge of medical complications in adults with achondroplasia: a scoping review
SO Fredwall, G Maanum, H Johansen… - Clinical …, 2020 - Wiley Online Library
This article provides an overview of the current knowledge on medical complications, health
characteristics, and psychosocial issues in adults with achondroplasia. We have used a …
characteristics, and psychosocial issues in adults with achondroplasia. We have used a …
[PDF][PDF] Causes of short stature
AD Rogol - UpToDate online, 2019 - edisciplinas.usp.br
INTRODUCTION—Short stature is a term applied to a child whose height is 2 standard
deviations (SD) or more below the mean for children of that sex and chronologic age (and …
deviations (SD) or more below the mean for children of that sex and chronologic age (and …
Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality
KS Milks, LM Hill, K Hosseinzadeh - Pediatric radiology, 2017 - Springer
Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several
sonographic parameters. Degree of femoral shortening, lung volumes, femur length to …
sonographic parameters. Degree of femoral shortening, lung volumes, femur length to …