A rare case of cleidocranial dysplasia presenting with failure to thrive

Abstract

Cleidocranial dysplasia (CCD) is a rare (1:1,000,000) congenital condition secondary to spontaneous mutation (40%) or autosomal dominant inheritance (60%) affecting skeletal and dental systems. Hypomineralization of the hypoplastic clavicles and/or cranium is the major feature observed by prenatal ultrasound. Radiologically clavicles are hypoplastic or absent in chest X-ray. Delayed closure of the fontanelle and the skull sutures in pediatric and adolescent population and increased mobility of shoulders in all age groups (exhibited by the ability to bring shoulders close to each other) are prominent clinical diagnostic features of CCD. The diagnosis of CCD is often missed or significantly delayed. The management of CCD involves a multidisciplinary approach and its early diagnosis is essential to select an optimum plan and therapeutic benefit. We present here a case of CCD in a 17-month-old girl referred to us for investigation of below average weight and height gain; we stress on the usefulness of early diagnosis in the management of CCD and discuss current management concepts.

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

“…The length of the femur was 67 mm (reference, 66 to 76), which was within the normal range. a short femoral neck and a wide symphysis pubis, which could lead to coxa vara and phalangeal abnormalities 14,15) . Hypoplasia of the skull and bilateral clavicles, a bell-shaped thoracic cage, and a wide symphysis pubis were observed in our patient.…”

Imaging studies used as aid in the diagnosis of cleidocranial dysplasia. A review

“…Previously, the imaging studies available for the diagnosis of CCD in dentistry were based on panoramic, cephalometric and posteroanterior radiographs. Unfortunately, these studies only provide a general vision and, in many cases, are distorted due to factors such as image magnification, superposition and patient position and are also insufficient to evaluate the entire craniofacial massif 10 , 11 .…”