Cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

Cleft lip

A gap in the lip or lips.


Total: 2

                       


(per page)
PMID (PMCID)
11459326
 MALE Child
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
Yamachika E, Tsujigiwa H, Ishiwari Y, Mizukawa N, Nagai N, Sugahara T.
J Oral Pathol Med. 2001;30(6):381-3.
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
11459326
 MALE Child
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
Yamachika E, Tsujigiwa H, Ishiwari Y, Mizukawa N, Nagai N, Sugahara T.
J Oral Pathol Med. 2001;30(6):381-3.
We examined a patient with cleidocranial dysplasia (CCD) and cleft lip and found a new stop codon mutation in CBFA1.