Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report

Table 1 Literature review of fetal cleidocranial dysplasia diagnosed by ultrasound

Ref.	Family history	Maternal history	Previous pregnancy	Gestational week at detection	Prenatal ultrasound findings	Genetic diagnosis
Hassan et al[9], 1997	Unknown	G2P1	Healthy female	19 weeks	Abnormal skull ossification; short femora; short humeri	No chromosome rearrangement of chromosome 6
Stewart et al[15], 2000	Positive	G3P2	CCD male, healthy female	14 weeks + 4 days	The hypoplastic clavicles and the cranium appeared less well ossified than expected for gestational age	Undetected
Paladini et al[11], 2000	NA	NA	NA	37 weeks	Late-onset skeletal dysplasia; clear frontoparietal bossing; hypomineralization of the cranial bones; the low nasal bridge; clavicular hypoplasia	Refused genetic testing
Winer et al[3], 2003	Negative	NA	NA	24 weeks	Clavicular hypoplasia; no ossification of the cranial parietal bone; very poor ossification of the frontal and pubic bones; the long bones growth restriction	An apparently de novo balanced t(2q;6q)(q36;q16) translocation
Soto et al[13], 2006	Positive	G3P1	Open anterior fontanelle at 5-year-old	18 weeks + 3 days	18 weeks + 3 days: Absence of nasal bone, the widened fontanelles; hypomineralized occipital bones; 21 weeks + 3 days: Intrauterine clavicle fracture	No RUNX2 gene mutation
Hove et al[14], 2008	Positive	G2P1	CCD child	13 weeks + 6 days	Severely delayed ossification of the vertebral spine; barely visible clavicles; poorly ossified calvarial bones	NA
Hermann et al[12], 2009	Positive	NA	NA	15 weeks + 4 days	Large fontanelles; lack of nasal bones; clavicles without the typical “S” form; severe delay in calvarial ossification	NA
Present case	Unknown	G2P1	Healthy male	16 weeks	Lack of nasal bones; large fontanelles; widened cranial suture; the poor ossification of skull and clavicle; short femur	Pathogenic mutations in the RUNX2 gene (c.674G>A)

G: Gestation; P: Production; CCD: Cleidocranial dysplasia; NA: Not available; RUNX2: RUNX family transcription factor 2.