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Achondroplasia
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=== Radiologic findings === A skeletal survey is useful to confirm the diagnosis of achondroplasia. The skull is large, with a narrow [[foramen magnum]], and relatively small skull base. The vertebral bodies are short and flattened with relatively large intervertebral disk height, and there is congenitally narrowed [[spinal canal]]. The iliac wings are small and squared, with a narrow sciatic notch and horizontal acetabular roof.<ref name=elsobky2017>{{cite journal|last1=EL-Sobky|first1=TA|last2=Shawky|first2=RM|last3=Sakr|first3=HM|last4=Elsayed|first4=SM|last5=Elsayed|first5=NS|last6=Ragheb|first6=SG|last7=Gamal|first7=R|title=A systematized approach to radiographic assessment of commonly seen genetic bone diseases in children: A pictorial review.|journal= J Musculoskelet Surg Res|volume=1|issue=2|pages=25|date=15 November 2017|doi=10.4103/jmsr.jmsr_28_17|s2cid=79825711 |doi-access=free}}</ref><ref name="titleAchondroplasia Pelvis">{{cite web|url=http://www.stevensorenson.com/residents6/achondroplasia_pelvis.htm|title=Achondroplasia Pelvis|access-date=28 November 2007|archive-url=https://web.archive.org/web/20071022201339/http://stevensorenson.com/residents6/achondroplasia_pelvis.htm|archive-date=22 October 2007|url-status = dead}}</ref> The tubular bones are short and thick with [[metaphyseal]] cupping and flaring and irregular growth plates.<ref name=elsobky2017/> [[Fibular]] overgrowth is present. The hand is broad with short [[metacarpals]] and [[phalanges]], and a trident configuration. The ribs are short with cupped anterior ends.<ref name=elsobky2017/> If the [[radiographic]] features are not classic, a search for a different diagnosis should be entertained. Because of the extremely deformed bone structure, people with achondroplasia are often "[[Hypermobility (joints)|double jointed]]". The diagnosis can be made by fetal [[ultrasound]] by progressive discordance between the short [[femur]] length and biparietal diameter by age. The trident hand configuration can be seen if the fingers are fully extended.{{citation needed|date=September 2021}} Another common characteristic of the syndrome is thoracolumbar [[Gibbus deformity|gibbus]] in infancy.<ref>{{cite journal|doi=10.1038/s41574-021-00595-x|quote="Spinal thoracolumbar kyphosis (gibbus) in infants with achondroplasia is common but should resolve when the child begins to mobilize."|title=International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia|year=2021|last1=Savarirayan|first1=Ravi|last2=Ireland|first2=Penny|last3=Irving|first3=Melita|last4=Thompson|first4=Dominic|last5=Alves|first5=Inês|last6=Baratela|first6=Wagner A. R.|last7=Betts|first7=James|last8=Bober|first8=Michael B.|last9=Boero|first9=Silvio|last10=Briddell|first10=Jenna|last11=Campbell|first11=Jeffrey|last12=Campeau|first12=Philippe M.|last13=Carl-Innig|first13=Patricia|last14=Cheung|first14=Moira S.|last15=Cobourne|first15=Martyn|last16=Cormier-Daire|first16=Valérie|last17=Deladure-Molla|first17=Muriel|last18=Del Pino|first18=Mariana|last19=Elphick|first19=Heather|last20=Fano|first20=Virginia|last21=Fauroux|first21=Brigitte|last22=Gibbins|first22=Jonathan|last23=Groves|first23=Mari L.|last24=Hagenäs|first24=Lars|last25=Hannon|first25=Therese|last26=Hoover-Fong|first26=Julie|last27=Kaisermann|first27=Morrys|last28=Leiva-Gea|first28=Antonio|last29=Llerena|first29=Juan|last30=MacKenzie|first30=William|journal=Nature Reviews Endocrinology|volume=18 |issue=3 |pages=173–189 |pmid=34837063|s2cid=244638495|display-authors=1|doi-access=free}}</ref>
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