Cleidocranial dysplasia: A report of two cases
نویسندگان
چکیده
منابع مشابه
[Cleidocranial dysplasia: a case report].
A 3-month-old female infant who presented with patent sagittal suture and loss of weight is described. Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalit...
متن کاملFamilial Cleidocranial Dysplasia in a Neonate: A Case Report
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
متن کاملCleidocranial Dysplasia: A Case Report
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, a...
متن کاملCleidocranial Dysplasia in Son and Father: Report of Two Rare Cases with Review of Literature
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2 (RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis...
متن کاملCleidocranial Dysplasia: Case Report of Three Siblings
BACKGROUND A family case report of cleidocranial dysplasia (CCD) with varied manifestations from father to three siblings is presented. CCD ( MIM # 119600) is a rare autosomal dominant skeletal dysplasia caused by CBAF1 gene ( OMIM 600211) with a wide range of variability. In all the cases generalized dysplasia in bone, prolonged retention of primary teeth and delayed eruption of permanent teet...
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ژورنال
عنوان ژورنال: Journal of Indian Society of Pedodontics and Preventive Dentistry
سال: 2011
ISSN: 0970-4388
DOI: 10.4103/0970-4388.85836