Table 2.

Prenatal sonographic findings and summary of previously reported cases and the cases in the current report.

Number	Publication year	Journal	Author	Title	Paper type	GA at diagnosis (weeks)	Skull	Clavicle	Nasal bone	Long bone	Others	Family history	RUNX2
1	1993	Obstetrics and Gynecology	Hamner LH 3rd	Prenatal diagnosis of cleidocranial dysostosis	case report	15 + 4	NR	left clavicle normal, right clavicle absent	NR	NR	NR	+	NR
						20 + 5, 30		left clavicle normal, right clavicle short and poorly mineralized
2	2002	Ultrasound in Obstet Gyne	Paladini D	Cleidocranial dysostosis Prenatal ultrasound diagnosis of a late onset	letters to the editor	37	hypo-mineralization cranial bones, unusually obvious intracranial structure, parietal bone deformation under pressure, fronto-parietal bossing	moderately hypoplastic	low nasal bridge	22 weeks normal, 30 weeks on the 5th centile, 32 and 37 weeks below 5th centile	NR	+	NR
3	2002	Ultrasound in Obstet Gyne	Stewart PA	Early prenatal ultrasound diagnosis of cleidocranial dysplasia	case report	14 + 4, 21 + 2	less well ossified	short and hypoplastic	NR	normal	NR	+	NR
4	2003	Ultrasound in Obstet Gyne	Winer N	Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q; 6q)(q36; q16) translocation	case report, letters to the editor	24	very poor ossification of the frontal and parietal bones, fronto-parieto-occipital bossing, brachycephaly	poor ossification	low nasal bridge	below the 3rd centile	poor ossification of the scapulae, short thorax, coronal cleft vertebrae, deficient pelvic ossification with hypoplasia of the iliac wings	–	+
5	2004	Prenatal Diagnosis	Chen CP	Second-trimester nasal bone hypoplasia/aplasia associated with cleidocranial dysplasia	letters to the editor	20, 22, 31	NR	NR	absent	at the 10th centile	NR	–	NR
6	2006	Ultrasound in Obstet Gyne	Soto E	Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency	case report	18 + 3	hypo-mineralization skull bones, well defined brain structures in the nearfield, absence of the squamous portion of the temporal bone, poor ossification of the occipital bone	NR	absent	normal	NR	–	–
						21 + 3		Right clavicle fractured				+
7	2008	Fetal Diagnosis and Therapy	Hove HD	An Echo-Poor Spine at 13 Weeks: An Early Sign of Cleidocranial Dysplasia	case report	13 + 6	severe delay in calvarial ossification	the clavicles were barely seen, lacking the typical S shape	NR	short femurs	severely delayed ossification of the vertebral spine	+	NR
8	2009	Fetal Diagnosis and Therapy	Hermann NV	Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia	case report	15 + 4, 20 + 5, 24 + 5	severe delay in calvarial ossification, large fontanelles	short and without the typical S form	absent	at the 5th centile	normal NT thickness	+	NR
9	2017	Ultrasound in Obstet Gyne	Waelti S	Absent nasal bone without other features of Trisomy 21 in pregnant Caucasian women: check the clavicles for cleidocranial dysplasia	conference paper	24	fontanelles were large with wide sutures, the brain parenchyma was unusually clearly visible	hypoplastic	absent	normal	NR	+	+
10	2019	Chin J Med Genet	Jiao ZH	Prenatal diagnosis for two families affected cleidocranial dysplasia due to novel RUNY2 variants	sporadic case	24	hypo-mineralization skull bones	NR	NR	at the 3rd centile	NR	+	+
11	2021	Ultrasound in Obstet	Delgado, TB	Pregnant women and fetus affected by cleidocranial dysplasia: a case report	conference paper	20	widening of the coronal suture, a large anterior fontanelle, a prominent forehead, brachycephaly	hypoplastic clavicles with agenesis at the acromial extremity	absent	normal	–	+	NR
						33 + 5					mild polyhydramnios
12	2022	J. Clin. Med	Moczulska H	Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes	sporadic case	19	NR	significantly shortened	hypoplasia	shortening of long bones	hypertelorism, small shoulder blades	NR	+
13	2022	Prenatal Diagnosis	Dufke A	A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies	sporadic case	23	frontal bossing, enlarged suturae	bilateral short claviculae	absent	short femurs	short ribs	NR	+
14	2023	Case 1 (current report)			case report	13 + 3	hypo-mineralization skull bones, well demonstrated cerebral structures of the near field	NR	absent	normal	poor ossification of spine and pelvis, thickened nuchal translucency, congenital bowing of the tibia and fibula	–	+
						20 + 4				below the 3rd centile
15	2023	Case 2 (current report)			case report	32 + 3	hypo-mineralization skull bones, clearly identified cerebral structures of the near field, skull deformation, prominent parietal and frontal bones	short and hypoplastic	absent	below the 10th centile	–	–	+