Neonatal Med.  2020 Nov;27(4):192-196. 10.5385/nm.2020.27.4.192.

Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study

• Kim JH
• Kim SJ
• Kim HH
• Kim JK

• KMID: 2510825
• DOI: http://doi.org/10.5385/nm.2020.27.4.192

Abstract

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplastic disease associated with mutations in the gene encoding the Runt-related transcription factor 2 (RUNX2). CCD is characterized by hypoplastic clavicles and patent cranial sutures. Management is essential to prevent complications during growth of the patient. Herein, we report a sporadic case of an infant with hypoplastic skull and clavicles at birth, which correlated with clinical findings of CCD. A heterozygous mutation was identified in the RUNX2 gene, which confirmed the diagnosis of CCD.

Keyword

Cleidocranial dysplasia; RUNX2 protein, human; Skull; Clavicle

Figure

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  Figure 1. The infant, displaying features characteristic of cleidocranial dysplasia (CCD). (A) Note the wide-set eyes (hypertelorism), and the shoulders could be folded close together. (B) Unusually large fontanelles and wide suture lines (black lines drawn along the margins of the skull bones). (C) Chest radiograph showing hypoplasia of bilateral clavicles. (D) Skull radiograph showing hypoplasia of the frontal, occipital, parietal, and temporal bones.

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  Figure 2. Sequence chromatograms showing heterozygous mutation c.674G>A (p.Arg225Gln), discovered in the Runt domain.

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  Figure 3. Chest and neck radiographs taken at 4 years of age. (A) The bilateral dysplastic clavicles observed after birth remain underdeveloped. (B) The suture lines are narrower and multiple Wormian bones (arrow) are seen.

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  Figure 4. Pelvic radiograph taken at 4 years of age. Note the wide symphysis pubis. Pubic symphysial width: 25 mm (reference: 5.1±1.3 mm, mean±standard deviation).

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