[HTML][HTML] Prenatal diagnosis of cleidocranial dysplasia: Case report on two cases with a negative family history

R Han, C Zhang, X Fu, Z Zhu, X Wang, H Li - Heliyon, 2024 - cell.com
Introduction Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia
that presents with abnormalities in the craniofacial region, teeth, and clavicles and is linked …

Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

JI Segovia‐Fuentes, JA Egurrola‐Pedraza… - Clinical Case …, 2021 - Wiley Online Library
Cleidocranial dysplasia is a rare disease with an autosomal‐dominant inheritance that
mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and …

[HTML][HTML] Cleidocranial dysplasia

S Kutilek, R Machytka, P Munzar - Sudanese Journal of Paediatrics, 2019 - ncbi.nlm.nih.gov
We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping
shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary …

Physiology and Clinical Manifestations of Pathologic Cranial Suture Widening

DM Roth, JO Piña, M MacPherson… - The Cleft Palate …, 2023 - journals.sagepub.com
Cranial sutures are complex structures integrating mechanical forces with osteogenesis
which are often affected in craniofacial syndromes. While premature fusion is frequently …

Imaging characteristics of gubernaculum tracts in patients with cleidocranial dysplasia: a computed tomography study

S Nishina, M Oda, I Nishida, M Habu… - Oral Surgery, Oral …, 2024 - Elsevier
Objectives To elucidate the imaging characteristics of the gubernaculum tract (GT) in
patients with cleidocranial dysplasia (CCD) as visualized with computed tomography (CT) …

Sphenoid bone hypoplasia is a skeletal phenotype of cleidocranial dysplasia in a mouse model and patients

K Mitomo, S Matsunaga, K Kitamura, T Nakamura… - Bone, 2019 - Elsevier
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by heterozygous
mutations in RUNX2. Affected individuals exhibit delayed maturation or hypoplasia in …

Cleidocranial dysplasia–A case report discussing the clinical and radiological manifestations

VS Shekhawat, YS Gulati - Journal of Marine Medical Society, 2020 - journals.lww.com
Cleidocranial dysplasia (CCD) is a generalized skeletal disorder characterized by typical
clinical and radiological abnormalities which include open cranial sutures and fontanelle …

The ossicles in pediatric conductive hearing loss

AM Foust, DS Poe, CD Robson - Neurographics, 2020 - ingentaconnect.com
Congenital ossicular anomalies are important, often-missed causes of pediatric conductive
hearing loss that may occur in isolation or as part of a syndrome. Accurately identifying and …

[PDF][PDF] A dental approach to hereditary and congenial metabolic bone diseases.

AA Rallatou, SD Sakka, C Zafeiris - Journal of Research & Practice on the …, 2023 - jrpms.eu
Bone growth requires a balance of minerals such as calcium, phosphorus, and factors of
bone biomineralization. The difference between jaws' bones and the rest of the bones is the …

[HTML][HTML] An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia

M Chen, SM Lin, N Li, Y Li, Y Li, L Zhang - Stem Cell Research, 2021 - Elsevier
Abstract Cleidocranial dysplasia (CCD; MIM# 119600) is an autosomal dominant genetic
disorder caused by heterozygous loss-of-function mutation of the RUNX2 gene, which is …