Achondroplasia New

8/14/2019 Achondroplasia New

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PRESENTED BY:PRESENTED BY: GUIDED BY:GUIDED BY:

DR.B.ANAND,DR.B.ANAND,DR.S.SHANMUGAM,DR.S.SHANMUGAM,

P.G. STUDENT,P.G. STUDENT, PROFESSOR & H.O.D.,PROFESSOR & H.O.D.,DEPT OF ORAL MEDICINE & RADIOLOGY,DEPT OF ORAL MEDICINE & RADIOLOGY, DEPT OF ORALDEPT OF ORALMEDICINE & RADIOLOGY,MEDICINE & RADIOLOGY,

RAGAS DENTAL COLLEGE & HOSPITAL,RAGAS DENTAL COLLEGE & HOSPITAL, RAGAS DENTAL COLLEGE &RAGAS DENTAL COLLEGE &HOSPITAL,HOSPITAL,

CHENNAI-600119.CHENNAI-600119. CHENNAI-600119.CHENNAI-600119.


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CHIEF COMPLAINTCHIEF COMPLAINT


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Parents non consanguineous marriage ,only son,Parents non consanguineous marriage ,only son,

father short staturedfather short statured

Prominent foreheadProminent forehead


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DisproportionatelyDisproportionatelyshort staturedshort statured

Head large comparedHead large comparedto rest of bodyto rest of body

Normal intelligenceNormal intelligence


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LATERAL VIEW

Retrognathic maxillaRetrognathic maxilla

Relative mandibular prognathismRelative mandibular prognathism

Concave profileConcave profile


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Limbs short andLimbs short andstubbystubby


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Lumbar lordosisLumbar lordosis

ProminentProminent

buttocksbuttocks


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OPG


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DIAGNOSIS & RxDIAGNOSIS & Rx

ACHONDROPLASIA.ACHONDROPLASIA.

Rx:Rx:1.1. Complete scaling and curettage in relation toComplete scaling and curettage in relation to

43,42,41.31 region.43,42,41.31 region.

2.2. Extraction of root stumps of 14 and 46 underExtraction of root stumps of 14 and 46 underLA.LA.

3.3. Amalgam restoration of 16,26.Amalgam restoration of 16,26.


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INTRODUCTIONINTRODUCTION

The term Achondroplasia was first used byThe term Achondroplasia was first used byParrot in 1878 to describe a rhizomelic formParrot in 1878 to describe a rhizomelic formof short limbed dwarfismof short limbed dwarfism

It is the most prevalent form of dwarfism, withan incidence of approximately 1 in 25,000(Pauli et al. 1997).


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Point mutation (guanosine substitutionfor adenine) in a gene on chromosome 4

Results in substitution of an originalresidue for glycine in fibroblast growthreceptor 3 (FGFR3).


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CLINICAL FEATURESCLINICAL FEATURES

Short stature Rhizomelic dwarfism

a disproportionately long trunk. Trident hands Midfacial hypoplasia


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ContCont

Prominent forehead thoracolumbar kyphosis and lumbar

spinal stenosis. Limitation of joint motion Normal intelligence


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Infants display thoracolumbar kyphosis, andmuscle hypotonia

By 1218 months, the trunk developsstrength.

Anterior vertebral wedging in achondroplasiabecomes resolved in 90% of patients

In 10% transient kyphosis cases becomefixed,


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Median sagittal sections of ninth month foetal skullsto illustrate comparative growth changes.

A, normal; B, achondroplast;


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PICTORIAL REPRESENTATION OF FEMUR AND CLAVICLEPICTORIAL REPRESENTATION OF FEMUR AND CLAVICLE

IN A ACHONDROPLAST AND NORMAL INDIVIDUALIN A ACHONDROPLAST AND NORMAL INDIVIDUAL


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PICTORIAL REPRESENTATION OF EPIPHYSIAL VOLUMEPICTORIAL REPRESENTATION OF EPIPHYSIAL VOLUME


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ORAL MANIFESTATIONSORAL MANIFESTATIONS

Malocclusion due to disparity in the sizeMalocclusion due to disparity in the sizeof the 2 jawsof the 2 jaws

Normal dentitionNormal dentition


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COMPLICATIONS:

Respiratory difficulties Hypotonia, and joint laxity Frequent otitis media Hydrocephalus late onset neurological complaints because of

spinal stenosis.


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Radiographic featuresRadiographic features

Midfacial hypoplasiaMidfacial hypoplasia Enlarged calvariaEnlarged calvaria

Shortening of base of skullShortening of base of skull Reduced size of foramen magnumReduced size of foramen magnum Long bones shorter than normalLong bones shorter than normal

Thickened and mildly clubbed endsThickened and mildly clubbed ends


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Differential DiagnosisDifferential Diagnosis

Pituitary dwarfismPituitary dwarfism Ellis van Creveld SyndromeEllis van Creveld Syndrome


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Diagnosis :Diagnosis :

Before birth, an ultrasoundBefore birth, an ultrasound

At birth or during infancy, with x-rays and aAt birth or during infancy, with x-rays and aphysical examination.physical examination.

Genetic testing using a blood sample can beGenetic testing using a blood sample can bedone to look for a mutation (change) in thedone to look for a mutation (change) in thegenegene


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Treatment and PrognosisTreatment and Prognosis

No treatment for achondroplasiaNo treatment for achondroplasia

Frequent middle ear infection and dentalFrequent middle ear infection and dentalcrowding needs attentioncrowding needs attention

If patient survives first few years of lifeIf patient survives first few years of life normal life expectancy normal life expectancy


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DiscussionDiscussion

FEATURES presence

Short stature

Rhizomelic dwarfisma disproportionately long trunk.

Trident hands

Midfacial hypoplasia

Prominent foreheadthoracolumbar kyphosis

Limitation of joint motion

Normal intelligence

Malocclusion

+

+

+

_

+

+

+_

+

+


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FEATURES presence

Enlarged calvaria

Shortening of base of skullReduced size of foramen magnum

Long bones shorter than normal

Thickened and mildly clubbed ends

neurological complaintsotitis media

Respiratory difficulties

+

+

_

+

+

_

_

_


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CONCLUSIONCONCLUSION
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Achondroplasia New

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