Table 1.

Clinical and Radiographic Findings of the Three Families with Bi-allelic CSF1R Mutations

Individual	III-1	II-2	III-4	III-6
Family	family A	family B	family C	family C
Mutation
Allele 1	c.395C>T (p.Pro132Leu)	c.1859−119G>A (p.Ser620delins40)	c.1969+115_1969+116del (p.Pro658Serfs∗24)
Allele 2	c.1441C>T (p.Gln481∗)	c.1879_1881del (p.Lys627del)	= Allele 1
Demographics
Sex	male	female	female	male
Age at the last visit	4 years 10 months	37 years	23 years	14 years
Ethnic background	Brazilian	Japanese	Chaldean	Chaldean
Consanguinity	–	–	+	+
Gestational/Perinatal Record
Fetal ultrasound	Dandy-Walker complex	normal	N/A	hydrocephalus
Gestational age	37 5/7 weeks	N/A	full term	full term
Birth weight (g)	4,270 (>90th centile)	N/A	N/A	3,300
Birth length (cm)	50 (75–90th centile)	N/A	N/A	N/A
OFC (cm)	40 (>98th centile)	N/A	normal	normal
Skeletal Radiograph
Fracture	–	+	–	–
Skull sclerosis	+	+	+	+
Optic canal narrowing	+	+	–	–
Pelvic bone sclerosis	+	+	–	–
Vertebral sclerosis	+	+	–	–
Platyspondyly	+	+ concaved at posterior thirds	+	+
Tubular bones
Under-modeling	+	+	+	+
Widened metaphysis	+	+	+	+
Radiolucent metaphysis	+	+	+	+
Constricted diaphysis	+	+	+	+
Sclerotic diaphysis	+	+	+	+
Brain Imaging
Multiple calcifications	+	+	+	+
Stepping stone appearance (peri-callosal region)	+	+	−	−
Corpus callosum agenesis	+	–	–	–
Dilated ventricle	+	+	+	+
Hydrocephalus	+ congenital	–	–	+ congenital
Dandy-Walker complex	+	–	large cysterna magna	large cysterna magna
Abnormal white matter signal	+	+	+	+
Laboratory Examination
Complete blood count	normal	normal	normal	normal
Serum marker for bone metabolism
TRACP-5b	240 (170–590 mU/dl)a	262 (120–420 mU/dl)b	N/A	N/A
CTX	282 (155–873 pg/mL)c	N/A	WNL	WNL
NTX	N/A	9.1 (7.5–16.5 nmol BCE/l)d	WNL	WNL

Abbreviations: N/A, not available; OFC, occipitofrontal circumference; TRACP-5b, tartrate-resistant acid phosphatase-5b; CTX, C-terminal telopeptide; NTX, type I collagen cross-linked N-telopeptides; BCE, bone collagen equivalents; WNL, within normal limits.

^aNormal range for male.

^bNormal range for female.

^cNormal range for male at age 18–30, the index at age less than 18 is not established.

^dNormal range for premenopausal female.