Work

A Child With Cleidocranial Dysplasia Presenting With Seizure Disorder

Year: 2025

Type: article

Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder of membranous bones with characteristic radio-morphological manifestations. There is disordered ossification of the skull vault and the clavicle, leading to a wide-open anterior fontanelle, frontal bossing, persistent metopic suture, multiple wormian bones, and hypermobile shoulders. Other features are absent nasal bones, the presence of supernumerary teeth, absent ossification of the pubic rami causing pseudo-widening of the pubic symphysis, pseudo-epiphyses of metacarpals and metatarsals, short distal phalanges, and a bell-shaped thorax. CCD is a form of skeletal dysplasia that goes undetected until it presents with some of the associated complications or other diseases. We report the case of a seven-year-old girl presenting with seizure disorder to us, and a detailed clinico-radiological study showed CCD.

Source: Cureus

DOI: 10.7759/cureus.89765

Authors: Sudipta Mohakud, Amit Satapathy, Subhakanta Patel, Pradosh Kumar Sarangi, Pavithra S, Dhirendra Mohanty

Institutions: All India Institute of Medical Sciences Bhubaneswar, All India Institute of Medical Sciences, Deoghar

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4413130505