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062. Pseudoachondroplasia versus achondroplasia versus hypochondroplasia

visual-inline rebuild3 extracted figuresspeaker notes XML19 study lines1 Q&A

Individual slide images have been cropped from the rendered slide and inserted beside the matching note section. The full slide remains below only for layout/audit.

Clean FRCS notes with inline figures

Pseudo → achondro → hypo

Radiograph / imaging — Fig 2. Radiograph / imagingmiddle centre

Radiograph / imaging — Fig 3. Radiograph / imagingmiddle left

•In common: AD, short stature

Difference:

•Achondroplasia: only one with abnormal face and trident hand

•Pseudochondroplasia = AD, COMP defect on chr19

•Age of onset usually 2nd decade

•Rhizomelic short limbs

•Hip dysplasia

•Windswept LL and knee recurvatum

•Fingers short and broad

•Spine (kyphoscoliosis, platyspondyly, odontoid hypoplasia)

•Normal IQ

•Also mimics SED because of epiphyseal changes, but difference is later onset, milder spine deformity and normal face in pseudo

•Hypochondroplasia = AD, rare form of same gene FGFR3

•Milder dwarfism

•Face N

•Spine changes rare

•MR

Rarely need surgery

Operative / approach image — Fig 1. Operative / approach imagetop left

Direct Q&A

Q1 What are the diagnostic findings and management points for Pseudoachondroplasia versus achondroplasia versus hypochondroplasia?

Pseudo → achondro → hypo

•In common: AD, short stature

Difference:

•Achondroplasia: only one with abnormal face and trident hand

•Pseudochondroplasia = AD, COMP defect on chr19

•Age of onset usually 2nd decade

•Rhizomelic short limbs

•Hip dysplasia

•Windswept LL and knee recurvatum

•Fingers short and broad

•Spine (kyphoscoliosis, platyspondyly, odontoid hypoplasia)

•Normal IQ

•Also mimics SED because of epiphyseal changes, but difference is later onset, milder spine deformity and normal face in pseudo

•Hypochondroplasia = AD, rare form of same gene FGFR3

•Milder dwarfism

•Face N

•Spine changes rare

•MR

Rarely need surgery

Raw speaker-note hierarchy audit

#	lvl	marL	indent	logical	original note line
1	0	None	None	0	Pseudo → achondro → hypo
2	0	None	None	0	In common: AD, short stature
3	0	None	None	0	Difference:
4	0	0	0	0	Achondroplasia: only one with abnormal face and trident hand
5	0	None	None	0	Pseudochondroplasia = AD, COMP defect on chr19
6	0	None	None	0	Age of onset usually 2nd decade
7	0	171450	-171450	1	Rhizomelic short limbs
8	0	171450	-171450	1	Hip dysplasia
9	0	171450	-171450	1	Windswept LL and knee recurvatum
10	0	171450	-171450	1	Fingers short and broad
11	0	171450	-171450	1	Spine (kyphoscoliosis, platyspondyly, odontoid hypoplasia)
12	0	171450	-171450	1	Normal IQ
13	0	171450	-171450	1	Also mimics SED because of epiphyseal changes, but difference is later onset, milder spine deformity and normal face in pseudo
14	0	None	None	0	Hypochondroplasia = AD, rare form of same gene FGFR3
15	0	171450	-171450	1	Milder dwarfism
16	0	171450	-171450	1	Face N
17	0	171450	-171450	1	Spine changes rare
18	0	171450	-171450	1	MR
19	0	171450	-171450	1	Rarely need surgery

Improved semantic hierarchy used for the study notes

#	semantic level	section?	rewritten line
1	0		Pseudo → achondro → hypo
2	1		In common: AD, short stature
3	0	yes	Difference:
4	1		Achondroplasia: only one with abnormal face and trident hand
5	1		Pseudochondroplasia = AD, COMP defect on chr19
6	1		Age of onset usually 2nd decade
7	1		Rhizomelic short limbs
8	1		Hip dysplasia
9	1		Windswept LL and knee recurvatum
10	1		Fingers short and broad
11	1		Spine (kyphoscoliosis, platyspondyly, odontoid hypoplasia)
12	1		Normal IQ
13	1		Also mimics SED because of epiphyseal changes, but difference is later onset, milder spine deformity and normal face in pseudo
14	1		Hypochondroplasia = AD, rare form of same gene FGFR3
15	1		Milder dwarfism
16	1		Face N
17	1		Spine changes rare
18	1		MR
19	0	yes	Rarely need surgery

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