2017Journal of Medical SciencesOpen access

Cleidocranial dysplasia: A rare case report

Anita Choudhary, Priyanka Minocha, Sadasivan Sitaraman

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Abstract

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder, characterized by delayed closure of anterior fontanelle, absent or hypoplastic clavicles, dental problems, and short stature. Usually, the presenting complaints are open anterior fontanelle and dental abnormalities. We hereby present a 5-year-old Indian child who presented to us with the complaints of persistently open anterior fontanelle and short stature. A detailed, thorough examination and high degree of suspicion in a child presenting with persistent open fontanelle has a great importance in the diagnosis of a genetic syndrome like CCD.

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What this paper is about

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder, characterized by delayed closure of anterior fontanelle, absent or hypoplastic clavicles, dental problems, and short stature. Usually, the presenting complaints are open anterior fontanelle and dental abnormalities. We hereby present a 5-year-old Indian child who presented to us with the complaints of persistently open anterior fontanelle and short stature. A detailed, thorough examination and high degree of suspicion in a child presenting with persistent open fontanelle has a great importance in the diagnosis of a genetic syndrome like CCD.

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Available abstract

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder, characterized by delayed closure of anterior fontanelle, absent or hypoplastic clavicles, dental problems, and short stature. Usually, the presenting complaints are open anterior fontanelle and dental abnormalities. We hereby present a 5-year-old Indian child who presented to us with the complaints of persistently open anterior fontanelle and short stature. A detailed, thorough examination and high degree of suspicion in a child presenting with persistent open fontanelle has a great importance in the diagnosis of a genetic syndrome like CCD.

Key concepts: Cleidocranial Dysplasia, Anterior fontanelle, Fontanelle, Short stature, Medicine, Dysplasia, Pediatrics, Dermatology

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