Examination revealed open and flat
anterior fontanelle, depressed neonatal reflexes and unremarkable systemic examination.
Complete physical examination was performed and complications of mercury administration like abdominal distension, dyspnoea, pallor, bulging
anterior fontanelle were also noted.
The physical examination was as follows: weight: 9500 g (75-90p), height:75 cm (75-90 p), head circumference: 44 cm (10-25p), the
anterior fontanelle was open and she had nine teeth.
The
anterior fontanelle was normally opened, with no dysmorphic features.
In the first case (28-year-old female), the patient had the typical phenotypic characteristics of cleidocranial dysostosis (short stature, open
anterior fontanelle, typical facial appearance, a wide and protruding forehead, and dental problems), bilateral pseudoarthrosis of the clavicle, slightly widened pubic symphysis, small iliac wings, bilateral shortness of the femoral neck and coxa vara, bilateral genu valgum in the lower extremity, progressive scoliosis, and a positive family history (in her father and grandmother) at presentation.
At 4 years old, he presented with a large
anterior fontanelle, low-set ears, bushy eyebrows, synophrys, shallow orbit, mild proptosis, hypertelorism, flat nasal bridge, micrognathia, downslanted palpebral fissures, short neck, stubby fingers, and joint hypermobility [Figure 1]a and [Figure 1]c; and his immunoglobulin E (IgE) increased (no exact data), but without allergic symptom.{Figure 1}
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.
Her head circumference stabilized, sutures became opposed and the
anterior fontanelle softened.
She was conscious and alert,
anterior fontanelle was patent, no other midline defects were identified, and primitive reflexes were normal with good tones.
CT head showed open
anterior fontanelle, large cranial vault with thin diploic space, and no abnormality in the brain (Figure 2(c)).
Cranial ultrasonography was performed through the
anterior fontanelle with an 8 MHz curvilinear probe using a Vivid S5 General Electric Healthcare ultrasound machine (USA).