Slide 058 — Rickets / osteomalacia

Clean FRCS notes with inline figures

Xray LL of skeletally immature patient

**Fig 2.** Classification / diagrambottom left

•Increased physeal width in general, cupping of metaphyseal area

•Bowing of bilateral tibia

•No coxa vara

•Systemic disease affecting physis

•Ddx: Rickets, MED, SED, achondroplasia

History:

Birth and family history

•Diet

Examination

•Hyperlaxity

•Generalized weakness

•Deformity

•Rickets features

•Syndromic features

•Ricket / Osteomalacia

•Defect in mineralization of osteoid matrix and chondroid (in zone of calcification) caused by inadequate calcium and phosphate

•Ca / PO4 homeostasis problem → impaired calcification of cartilage matrix of growing long bones → leads to increased physeal width and cortical thinning and bowing

Clinical:

•Short stature (proportionate)

•Frontal bossing + caput quadratum

•Craniotabes (softening of skull)

•Dolichocephaly (skull long posterior but thin width, due to premature closure of sutures)

•Pigeon chest

•Rachitic rosary

•Harrison’ sulcus

•Cat back kyphosis

•LL alignment abnormalities (SCFE, genu varum)

•Prominent distal wrist epiphysis

Biochemical:

•Decreased Ca, PO4

•Increased ALP and PTH (except in Familial hypophosphatemic rickets and hypophosphatasia)

•Vit D level depends on cause

•(see chart above)

Xray:

•Long bone bowing

•Looser’s zone / pseudofracture (transverse radiolucency due to unmineralized osteoid seam) → weight bearing bone on compression side (insufficiency fracture), non weight bearing bone at nutrient foramen

•Metaphysis flaring in paintbrush (indistinct) and cupping (egg in a cup)

•Widened physis (at zone of hypertrophy)

•+/- osteopenia

•Cod-fish vertebrae

•(Hypophosphatemia: bowing more over diaphysis)

•Histology: unmineralized osteoid seam

•Causes

•Intake: nutritional problem, lack of sunlight exposure, GI problem

Processing:

•Vitamin D dependent rickets

Type / group	Definition / note
Type I	defective 1α hydroxylase
Type II	end organ insensitivity to 1,25α hydroxylase

Recycling:

•Vitamin D resistant rickets (X linked dominant familial hypophosphatemic rickets) – PHEX (encode for endopeptidase cleaving FGF23), cannot chelate FGFR23, cannot reabsorb PO4 in the proximal tubules, cannot mineralize → more diaphyseal bowing rather than bowing a metaphysis (New drug, Burozumab)

•Hypophosphatasia – mutation in tissue nonspecific isoenzyme of ALP → reduced ALP, decreased synthesis of phosphate, decrease mineralization (increase urine phosphoethanol-amine)

Treatment

•Underlying cause

•Dietary input → Vit D3 supplement (5000IU/day)

•Vitamin dependent rickets

•Type 1 → physiologic doses (1-2 micrograms/day) of 1,25-(OH)2-Vit D (Calcitriol)

•Type 2 → high dose Vitamin D

•Hypophosphateamic syndrome → Calcitriol +/- phosphate (1g)

•Mild deformity→ watchful observation for remodeling

•Severe deformity affect ADL→ deformity correction

#	lvl	marL	indent	logical	original note line
1	0	None	None	0	Xray LL of skeletally immature patient
2	0	None	None	0	Increased physeal width in general, cupping of metaphyseal area
3	0	None	None	0	Bowing of bilateral tibia
4	0	None	None	0	No coxa vara
5	0	None	None	0	Systemic disease affecting physis
6	0	None	None	0	Ddx: Rickets, MED, SED, achondroplasia
7	0	None	None	0	History:
8	0	None	None	0	Birth and family history
9	0	None	None	0	Diet
10	0	None	None	0	PE:
11	0	None	None	0	Hyperlaxity
12	0	None	None	0	Generalized weakness
13	0	None	None	0	Deformity
14	0	None	None	0	Rickets features
15	0	None	None	0	Syndromic features
16	0	None	None	0	Ricket / Osteomalacia
17	0	None	None	0	Defect in mineralization of osteoid matrix and chondroid (in zone of calcification) caused by inadequate calcium and phosphate
18	0	None	None	0	Ca / PO4 homeostasis problem → impaired calcification of cartilage matrix of growing long bones → leads to increased physeal width and cortical thinning and bowing
19	0	None	None	0	Clinical:
20	0	171450	-171450	1	Short stature (proportionate)
21	0	171450	-171450	1	Frontal bossing + caput quadratum
22	0	171450	-171450	1	Craniotabes (softening of skull)
23	0	171450	-171450	1	Dolichocephaly (skull long posterior but thin width, due to premature closure of sutures)
24	0	171450	-171450	1	Pigeon chest
25	0	171450	-171450	1	Rachitic rosary
26	0	171450	-171450	1	Harrison’ sulcus
27	0	171450	-171450	1	Cat back kyphosis
28	0	171450	-171450	1	LL alignment abnormalities (SCFE, genu varum)
29	0	171450	-171450	1	Prominent distal wrist epiphysis
30	0	None	None	0	Biochemical:
31	0	None	None	0	Decreased Ca, PO4
32	0	None	None	0	Increased ALP and PTH (except in Familial hypophosphatemic rickets and hypophosphatasia)
33	0	None	None	0	Vit D level depends on cause
34	0	None	None	0	(see chart above)
35	0	None	None	0	Xray:
36	0	171450	-171450	1	Long bone bowing
37	0	171450	-171450	1	Looser’s zone / pseudofracture (transverse radiolucency due to unmineralized osteoid seam) → weight bearing bone on compression side (insufficiency fracture), non weight bearing bone at nutrient foramen
38	0	171450	-171450	1	Metaphysis flaring in paintbrush (indistinct) and cupping (egg in a cup)
39	0	171450	-171450	1	Widened physis (at zone of hypertrophy)
40	0	171450	-171450	1	+/- osteopenia
41	0	171450	-171450	1	Cod-fish vertebrae
42	0	None	None	0	(Hypophosphatemia: bowing more over diaphysis)
43	0	None	None	0	Histology: unmineralized osteoid seam
44	0	None	None	0	Causes
45	0	171450	-171450	1	Intake: nutritional problem, lack of sunlight exposure, GI problem
46	0	171450	-171450	1	Processing:
47	1	628650	-171450	2	Vitamin D dependent rickets
48	2	1085850	-171450	3	Type I: defective 1α hydroxylase
49	2	1085850	-171450	3	Type II: end organ insensitivity to 1,25α hydroxylase
50	0	171450	-171450	1	Recycling:
51	1	628650	-171450	2	Vitamin D resistant rickets (X linked dominant familial hypophosphatemic rickets) – PHEX (encode for endopeptidase cleaving FGF23), cannot chelate FGFR23, cannot reabsorb PO4 in the proximal tubules, cannot mineralize → more diaphyseal bowing rather than bowing a metaphysis (New drug, Burozumab)
52	1	628650	-171450	2	Hypophosphatasia – mutation in tissue nonspecific isoenzyme of ALP → reduced ALP, decreased synthesis of phosphate, decrease mineralization (increase urine phosphoethanol-amine)
53	0	None	None	0	Treatment
54	0	None	None	0	Underlying cause
55	0	171450	-171450	1	Dietary input → Vit D3 supplement (5000IU/day)
56	0	171450	-171450	1	Vitamin dependent rickets
57	1	628650	-171450	2	Type 1 → physiologic doses (1-2 micrograms/day) of 1,25-(OH)2-Vit D (Calcitriol)
58	1	628650	-171450	2	Type 2 → high dose Vitamin D
59	0	171450	-171450	1	Hypophosphateamic syndrome → Calcitriol +/- phosphate (1g)
60	0	None	None	0	Mild deformity→ watchful observation for remodeling
61	0	None	None	0	Severe deformity affect ADL→ deformity correction

#	semantic level	section?	rewritten line
1	0	yes	Xray LL of skeletally immature patient
2	1		Increased physeal width in general, cupping of metaphyseal area
3	1		Bowing of bilateral tibia
4	1		No coxa vara
5	1		Systemic disease affecting physis
6	1		Ddx: Rickets, MED, SED, achondroplasia
7	0	yes	History:
8	0	yes	Birth and family history
9	1		Diet
10	0	yes	Examination
11	1		Hyperlaxity
12	1		Generalized weakness
13	1		Deformity
14	1		Rickets features
15	1		Syndromic features
16	1		Ricket / Osteomalacia
17	1		Defect in mineralization of osteoid matrix and chondroid (in zone of calcification) caused by inadequate calcium and phosphate
18	1		Ca / PO4 homeostasis problem → impaired calcification of cartilage matrix of growing long bones → leads to increased physeal width and cortical thinning and bowing
19	0	yes	Clinical:
20	1		Short stature (proportionate)
21	1		Frontal bossing + caput quadratum
22	1		Craniotabes (softening of skull)
23	1		Dolichocephaly (skull long posterior but thin width, due to premature closure of sutures)
24	1		Pigeon chest
25	1		Rachitic rosary
26	1		Harrison’ sulcus
27	1		Cat back kyphosis
28	1		LL alignment abnormalities (SCFE, genu varum)
29	1		Prominent distal wrist epiphysis
30	0	yes	Biochemical:
31	1		Decreased Ca, PO4
32	1		Increased ALP and PTH (except in Familial hypophosphatemic rickets and hypophosphatasia)
33	1		Vit D level depends on cause
34	1		(see chart above)
35	0	yes	Xray:
36	1		Long bone bowing
37	1		Looser’s zone / pseudofracture (transverse radiolucency due to unmineralized osteoid seam) → weight bearing bone on compression side (insufficiency fracture), non weight bearing bone at nutrient foramen
38	1		Metaphysis flaring in paintbrush (indistinct) and cupping (egg in a cup)
39	1		Widened physis (at zone of hypertrophy)
40	1		+/- osteopenia
41	1		Cod-fish vertebrae
42	1		(Hypophosphatemia: bowing more over diaphysis)
43	1		Histology: unmineralized osteoid seam
44	1		Causes
45	1		Intake: nutritional problem, lack of sunlight exposure, GI problem
46	0	yes	Processing:
47	2		Vitamin D dependent rickets
48	3		Type I: defective 1α hydroxylase
49	3		Type II: end organ insensitivity to 1,25α hydroxylase
50	0	yes	Recycling:
51	2		Vitamin D resistant rickets (X linked dominant familial hypophosphatemic rickets) – PHEX (encode for endopeptidase cleaving FGF23), cannot chelate FGFR23, cannot reabsorb PO4 in the proximal tubules, cannot mineralize → more diaphyseal bowing rather than bowing a metaphysis (New drug, Burozumab)
52	2		Hypophosphatasia – mutation in tissue nonspecific isoenzyme of ALP → reduced ALP, decreased synthesis of phosphate, decrease mineralization (increase urine phosphoethanol-amine)
53	0	yes	Treatment
54	1		Underlying cause
55	1		Dietary input → Vit D3 supplement (5000IU/day)
56	1		Vitamin dependent rickets
57	2		Type 1 → physiologic doses (1-2 micrograms/day) of 1,25-(OH)2-Vit D (Calcitriol)
58	2		Type 2 → high dose Vitamin D
59	1		Hypophosphateamic syndrome → Calcitriol +/- phosphate (1g)
60	1		Mild deformity→ watchful observation for remodeling
61	1		Severe deformity affect ADL→ deformity correction

058. Rickets / osteomalacia

Clean FRCS notes with inline figures

Xray LL of skeletally immature patient

History:

Birth and family history

Examination

Clinical:

Biochemical:

Xray:

Processing:

Recycling:

Treatment

Direct Q&A

Increased physeal width in general, cupping of metaphyseal area

Hyperlaxity

Underlying cause

Raw speaker-note hierarchy audit

Improved semantic hierarchy used for the study notes