Prenatal exclusion of cleidocranial dysplasia

Cavalli, Pietro; Santorelli, Filippo M.; Bontardelli, Massimo; Tessa, Alessandra; Bosi, Anna; Poggiani, Carlo

doi:10.1002/pd.718

Cited by 4 publications

(2 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the mother of our case, there was increased opposition in shoulder movements, but the clavicle size was normal on the bone radiographs of our case and there was no increased opposition movement. As indicated in previous publications, this shows us that CCD can cause different clinical presentations among the same family members (12).…”

Section: Discussionsupporting

confidence: 75%

Cleidocranial Dysplasia: A New Mutation

Yilmazbas¹,

Bezen²,

Ertürk³

2019

eamr

View full text Add to dashboard Cite

Cleidocranial dysplasia is a rare disease with mostly autosomal dominant inheritance. De novo mutations are rare and the disease is characterized by generalized dysplasia of bone tissue. Delay in closure of cranial sutures and fontanels, short stature, dental anomalies, hypoplasic or aplasic clavicles and some other bone anomalies are seen clinically. A 9.5 month old infant who presented with anterior and posterior fontanelle enlargement and separated sagittal suture is presented in this paper.

show abstract

Section: Discussionsupporting

confidence: 75%

Cleidocranial Dysplasia: A New Mutation

Yilmazbas¹,

Bezen²,

Ertürk³

2019

eamr

View full text Add to dashboard Cite

show abstract

“…Other features described during ultrasound examination include: hypomineralization/poor ossification of the cranial bones and/or pelvis; large fontanelles with wide sutures; obvious corpus callosum; brachycephaly; fronto‐parietal‐occipital bossing; low nasal bridge; and long bones below the fifth percentile8–12. Molecular prenatal diagnosis for RUNX2 mutations can be accomplished by analysis of fetal tissue, obtained by chorionic villus sampling or amniocentesis13.…”

Section: Discussionmentioning

confidence: 99%