Slide 074 — SED and MED

Clean FRCS notes with inline figures

Short stature

•SED

•Gene: COL2A1 on chromosome 12 (same gene as Kniest syndrome)

•Types

•Congenita: onset at birth, AD inheritance

•Tarda: onset >5yo, XL recessive

•Clinical

•General: disproportionate short stature, short trunk

•Face: hypertelorism, cleft palate

•Chest: pectus carinatum

•Limbs: coxa vara, genu valgum, equinovarus

•Spine: kyphoscoliosis, odontoid hypoplasia → AADI

XR:

•Hip dysplasia + coxa vara +/- genu valgum

•Platyspondyly

•Odontoid hypoplasia

CXR: restrictive lung disease

•MED

•AD

Gene:

•Type 1 COMP (Protein for cartilage mineralization. Mutation causes increase in proteoglycan in chondrocyte)

•Type 2 COL9A2

•Present in early adolescent

•Clinical

•General: disproportionate short stature, short limb

•Limbs: coxa vara, genu valgum, ankle valgus, acromelia (short digits)

•Spine: N

•IQ normal

XR

•Immature: small, flattened fragmented epiphysis

•Mature: flattening of WB joint + incongruity +/- early OA

•Double layered patella

Direct Q&A

Q1 What are the radiographic findings for SED and MED?

Hip dysplasia + coxa vara +/- genu valgum

•Platyspondyly

•Odontoid hypoplasia

Q2 How is SED and MED managed?

•Type 1 COMP (Protein for cartilage mineralization. Mutation causes increase in proteoglycan in chondrocyte)

•Type 2 COL9A2

•Present in early adolescent

•Clinical

•General: disproportionate short stature, short limb

•Limbs: coxa vara, genu valgum, ankle valgus, acromelia (short digits)

•Spine: N

•IQ normal

XR

•Immature: small, flattened fragmented epiphysis

•Mature: flattening of WB joint + incongruity +/- early OA

•Double layered patella

Raw speaker-note hierarchy audit

#	marL	indent	original note line
1	None	None	Short stature
2	None	None	SED
3	None	None	Gene: COL2A1 on chromosome 12 (same gene as Kniest syndrome)
4	None	None	Types
5	None	None	Congenita: onset at birth, AD inheritance
6	None	None	Tarda: onset >5yo, XL recessive
7	None	None	Clinical
8	None	None	General: disproportionate short stature, short trunk
9	0	0	Face: hypertelorism, cleft palate
10	0	0	Chest: pectus carinatum
11	None	None	Limbs: coxa vara, genu valgum, equinovarus
12	None	None	Spine: kyphoscoliosis, odontoid hypoplasia → AADI
13	None	None	XR:
14	None	None	Hip dysplasia + coxa vara +/- genu valgum
15	None	None	Platyspondyly
16	None	None	Odontoid hypoplasia
17	None	None	CXR: restrictive lung disease
18	None	None	MED
19	None	None	AD
20	None	None	Gene:
21	None	None	Type 1 COMP (Protein for cartilage mineralization. Mutation causes increase in proteoglycan in chondrocyte)
22	None	None	Type 2 COL9A2
23	None	None	Present in early adolescent
24	None	None	Clinical
25	None	None	General: disproportionate short stature, short limb
26	None	None	Limbs: coxa vara, genu valgum, ankle valgus, acromelia (short digits)
27	None	None	Spine: N
28	None	None	IQ normal
29	None	None	XR
30	None	None	Immature: small, flattened fragmented epiphysis
31	None	None	Mature: flattening of WB joint + incongruity +/- early OA
32	None	None	Double layered patella

lvl

marL

indent

logical

original note line

None

Short stature

None

SED

None

Gene: COL2A1 on chromosome 12 (same gene as Kniest syndrome)

None

Types

None

Congenita: onset at birth, AD inheritance

None

Tarda: onset >5yo, XL recessive

None

Clinical

None

General: disproportionate short stature, short trunk

Face: hypertelorism, cleft palate

Chest: pectus carinatum

None

Limbs: coxa vara, genu valgum, equinovarus

None

Spine: kyphoscoliosis, odontoid hypoplasia → AADI

None

XR:

None

Hip dysplasia + coxa vara +/- genu valgum

None

Platyspondyly

None

Odontoid hypoplasia

None

CXR: restrictive lung disease

None

MED

None

Gene:

None

Type 1 COMP (Protein for cartilage mineralization. Mutation causes increase in proteoglycan in chondrocyte)

None

Type 2 COL9A2

None

Present in early adolescent

None

Clinical

None

General: disproportionate short stature, short limb

None

Limbs: coxa vara, genu valgum, ankle valgus, acromelia (short digits)

None

Spine: N

None

IQ normal

None

Immature: small, flattened fragmented epiphysis

None

Mature: flattening of WB joint + incongruity +/- early OA

None

Double layered patella

Improved semantic hierarchy used for the study notes

#	semantic level	section?	rewritten line
1	0		Short stature
2	1		SED
3	1		Gene: COL2A1 on chromosome 12 (same gene as Kniest syndrome)
4	1		Types
5	1		Congenita: onset at birth, AD inheritance
6	1		Tarda: onset >5yo, XL recessive
7	1		Clinical
8	1		General: disproportionate short stature, short trunk
9	1		Face: hypertelorism, cleft palate
10	1		Chest: pectus carinatum
11	1		Limbs: coxa vara, genu valgum, equinovarus
12	1		Spine: kyphoscoliosis, odontoid hypoplasia → AADI
13	0	yes	XR:
14	1		Hip dysplasia + coxa vara +/- genu valgum
15	1		Platyspondyly
16	1		Odontoid hypoplasia
17	0	yes	CXR: restrictive lung disease
18	1		MED
19	1		AD
20	0	yes	Gene:
21	1		Type 1 COMP (Protein for cartilage mineralization. Mutation causes increase in proteoglycan in chondrocyte)
22	1		Type 2 COL9A2
23	1		Present in early adolescent
24	1		Clinical
25	1		General: disproportionate short stature, short limb
26	1		Limbs: coxa vara, genu valgum, ankle valgus, acromelia (short digits)
27	1		Spine: N
28	1		IQ normal
29	0	yes	XR
30	1		Immature: small, flattened fragmented epiphysis
31	1		Mature: flattening of WB joint + incongruity +/- early OA
32	1		Double layered patella

semantic level

section?

rewritten line

Short stature

SED

Gene: COL2A1 on chromosome 12 (same gene as Kniest syndrome)

Types

Congenita: onset at birth, AD inheritance

Tarda: onset >5yo, XL recessive

Clinical

General: disproportionate short stature, short trunk

Face: hypertelorism, cleft palate

Chest: pectus carinatum

Limbs: coxa vara, genu valgum, equinovarus

Spine: kyphoscoliosis, odontoid hypoplasia → AADI

yes

XR:

Hip dysplasia + coxa vara +/- genu valgum

Platyspondyly

Odontoid hypoplasia

yes

CXR: restrictive lung disease

MED

yes

Gene:

Type 1 COMP (Protein for cartilage mineralization. Mutation causes increase in proteoglycan in chondrocyte)

Type 2 COL9A2

Present in early adolescent

Clinical

General: disproportionate short stature, short limb

Limbs: coxa vara, genu valgum, ankle valgus, acromelia (short digits)

Spine: N

IQ normal

yes

Immature: small, flattened fragmented epiphysis

Mature: flattening of WB joint + incongruity +/- early OA

Double layered patella

074. SED and MED

Clean FRCS notes with inline figures

Short stature

XR:

CXR: restrictive lung disease

Gene:

XR

Direct Q&A

Hip dysplasia + coxa vara +/- genu valgum

XR

Raw speaker-note hierarchy audit

Improved semantic hierarchy used for the study notes