case 30 Solution Part 1

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The answer to the given question is “Achondroplasia”

The following may be noted:

⏩Autosomal Dominant (AD) Disorder

⏩Usually Sporadic mutation in > 80%

⏩M/C form of Skeletal Dysplasia

⏩Risk increases with increasing paternal age

⏩Pathology:

’Gain of Function’ mutation of FGFR3 Gene on chromosome 4

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case 30 || Solution || Part 2

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The answer to the given question is “Achondroplasia”

⏩Diagnosis:

✅Prenatal Ultrasound

✅DNA Testing (Before or after Birth)

✅Skeletal Survey (By series of X-ray)

⏩The above X-ray shows:

⏹Champagne Glass Pelvis:

⏹Bullet-shaped vertebra

(As shown in the picture)

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case 30 || Solution || Part 3

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The answer to the given question is “Achondroplasia”

⏩The above X-ray shows:


⏹Trident Hand / Starfish Hand:

✅Wide gap between Middle & Ring fingers (Trident Hand)

✅All of the digits are of equal length (Starfish hand)

(As shown in the picture)

⏹Tombstone Iliac wings:

✅Resembling ‘Tombstones’ or ‘Ears of Mickey Mouse’

(As shown in the picture)

For more updates & full explanation

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