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080. Rubin classification of skeletal dysplasia

visual-inline rebuild3 extracted figuresspeaker notes XML30 study lines3 Q&A

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Clean FRCS notes with inline figures

Rubin classification

**Fig 1.** Classification / diagramtop left

•Epiphyseal

•Hyperplasia: Trevor disease

•Hypoplasia: MED, SED

•Physeal

•Hyperplasia: Marfan, Ollier

•Hypoplasia: Achondroplasia

•Metaphyseal

•Hyperplasia: HME

•Hypoplasia: Osteopetrosis

•Diaphyseal

•Hyperplasia: Diaphyseal dysplasia

•Hypoplasia: OI

•Gene

•Achondroplasia: FGFR3

•Hypochondroplasia: FGFR3

•Pseudochondroplasia: COMP

•NF: NF1

•HME: EXT1

•Klippel Feil: SGM1

•Cleidocranial dysplasia: RUNX2

•McCune Albright: GNAS

•OI: COL1A1 1A2

•MED: COMP, COL9A2

•SED: COL2A1

•Marfan: Fibrillin

•Nail patella: LMX1B

•DMD: Dystrophin

•SMA: SMN1

•CMT: PMP22

Direct Q&A

Q1 What diagnostic or radiographic findings support Rubin classification of skeletal dysplasia?

Rubin classification

•Epiphyseal

•Hyperplasia: Trevor disease

•Hypoplasia: MED, SED

•Physeal

•Hyperplasia: Marfan, Ollier

•Hypoplasia: Achondroplasia

•Metaphyseal

•Hyperplasia: HME

•Hypoplasia: Osteopetrosis

Q2 How is Rubin classification of skeletal dysplasia classified here?

Epiphyseal

•Hyperplasia: Trevor disease

•Hypoplasia: MED, SED

•Physeal

•Hyperplasia: Marfan, Ollier

•Hypoplasia: Achondroplasia

•Metaphyseal

•Hyperplasia: HME

•Hypoplasia: Osteopetrosis

•Diaphyseal

•Hyperplasia: Diaphyseal dysplasia

•Hypoplasia: OI

•Gene

•Achondroplasia: FGFR3

•Hypochondroplasia: FGFR3

•Pseudochondroplasia: COMP

•NF: NF1

•HME: EXT1

•Klippel Feil: SGM1

•Cleidocranial dysplasia: RUNX2

•McCune Albright: GNAS

•OI: COL1A1 1A2

•MED: COMP, COL9A2

•SED: COL2A1

•Marfan: Fibrillin

•Nail patella: LMX1B

•DMD: Dystrophin

•SMA: SMN1

•CMT: PMP22

Q3 How is Rubin classification of skeletal dysplasia managed?

Cleidocranial dysplasia: RUNX2

•McCune Albright: GNAS

•OI: COL1A1 1A2

•MED: COMP, COL9A2

•SED: COL2A1

•Marfan: Fibrillin

•Nail patella: LMX1B

•DMD: Dystrophin

•SMA: SMN1

•CMT: PMP22

Raw speaker-note hierarchy audit

#	lvl	marL	indent	logical	original note line
1	0	None	None	0	Rubin classification
2	0	None	None	0	Epiphyseal
3	1	None	None	1	Hyperplasia: Trevor disease
4	1	None	None	1	Hypoplasia: MED, SED
5	0	None	None	0	Physeal
6	1	457200	0	1	Hyperplasia: Marfan, Ollier
7	1	None	None	1	Hypoplasia: Achondroplasia
8	0	None	None	0	Metaphyseal
9	1	None	None	1	Hyperplasia: HME
10	1	None	None	1	Hypoplasia: Osteopetrosis
11	0	None	None	0	Diaphyseal
12	1	None	None	1	Hyperplasia: Diaphyseal dysplasia
13	1	None	None	1	Hypoplasia: OI
14	0	None	None	0	Gene
15	0	None	None	0	Achondroplasia: FGFR3
16	0	None	None	0	Hypochondroplasia: FGFR3
17	0	None	None	0	Pseudochondroplasia: COMP
18	0	None	None	0	NF: NF1
19	0	None	None	0	HME: EXT1
20	0	None	None	0	Klippel Feil: SGM1
21	0	None	None	0	Cleidocranial dysplasia: RUNX2
22	0	None	None	0	McCune Albright: GNAS
23	0	None	None	0	OI: COL1A1 1A2
24	0	None	None	0	MED: COMP, COL9A2
25	0	None	None	0	SED: COL2A1
26	0	None	None	0	Marfan: Fibrillin
27	0	None	None	0	Nail patella: LMX1B
28	0	None	None	0	DMD: Dystrophin
29	0	None	None	0	SMA: SMN1
30	0	None	None	0	CMT: PMP22

Improved semantic hierarchy used for the study notes

#	semantic level	section?	rewritten line
1	0	yes	Rubin classification
2	1		Epiphyseal
3	1		Hyperplasia: Trevor disease
4	1		Hypoplasia: MED, SED
5	1		Physeal
6	1		Hyperplasia: Marfan, Ollier
7	1		Hypoplasia: Achondroplasia
8	1		Metaphyseal
9	1		Hyperplasia: HME
10	1		Hypoplasia: Osteopetrosis
11	1		Diaphyseal
12	1		Hyperplasia: Diaphyseal dysplasia
13	1		Hypoplasia: OI
14	1		Gene
15	1		Achondroplasia: FGFR3
16	1		Hypochondroplasia: FGFR3
17	1		Pseudochondroplasia: COMP
18	1		NF: NF1
19	1		HME: EXT1
20	1		Klippel Feil: SGM1
21	1		Cleidocranial dysplasia: RUNX2
22	1		McCune Albright: GNAS
23	1		OI: COL1A1 1A2
24	1		MED: COMP, COL9A2
25	1		SED: COL2A1
26	1		Marfan: Fibrillin
27	1		Nail patella: LMX1B
28	1		DMD: Dystrophin
29	1		SMA: SMN1
30	1		CMT: PMP22

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