Feredun AzarI

Feredun AzarICPD presentation

CaseThis is a 6 year old male with a short stature

DDX:PanhypopituitarismHypothyroidismAchondroplasiaCongenital Hip DysplasiaBlount's Disease

Hypothyroidism Not enough thyroid hormone CHDAcetabulum or the head of the femur is not well developed

Blounters Disease Blount's disease is a growth disorder of the shin bone (tibia) in which the lower leg turns inward, resembling a bowleg.

Panhypopituitirism Panhypopituitarism is a condition of inadequate or absent production of the anterior pituitary hormones

AchondroplasiaAD or sporadic mutation in FGFR3 affecting endochondral bone ossification

Most common form of dwarfism (3rd percentile in standing height)

Most common extremity involvement is rhizomelic (proximal)

Means that humerus and femur are more involved than tibia and tibia Clinical findings Delayed motor development

Recurrent otitis media

Normal intelligence

LE radiculopathy

Imaging findings Pre-natal: use US to detect After birth: conventional radiography is used to find abnormalities

Skull:

Frontal bossing Enlarged mandible Hypoplasia of the midface Long bones Short long bones (rhizomelic)

Genu Varum

Posterior bowing of the distal humerus

TxSomatotropin

It is GH- is given usually at childhood to potentially stimulate growth, even though pt will not reach normal height, the sxs will be less severe and developmentally excel than without medication

Prognosis:

NL development, can have children and the chance of having mutation is that of the normal population

Walking through the picture Yellow arrows: -Squaring of the pelvis (tombstone pelvis) , and the decrease of the acetabular angles

White: Genu Varum deformity

Green: Metaphyses is abnormal because the bone is short but wide

INNER PELVIS IS SHAPED LIKE A CHAMPAGNE GLASSSources Gene Review: AchondroplasiaHorton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007 Jul 14;370(9582):162-72. Review. PubMed citationHorton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002 Dec;3(4):381-5. Review. PubMed citationHorton WA. Recent milestones in achondroplasia research. Am J Med Genet A. 2006 Jan 15;140(2):166-9. PubMed citationLaederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 2010 Aug;22(4):516-23. doi: 10.1097/MOP.0b013e32833b7a69. Review. PubMed citationTrotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005 Sep;116(3):771-83. Erratum in: Pediatrics. 2005 Dec;116(6):1615. PubMed citationVajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. Review. PubMed citationWright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012 Feb;97(2):129-34. doi: 10.1136/adc.2010.189092. Epub 2011 Apr 3. Review. PubMed citationLearning Radiology: Case of the week: Case 569