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.
Usually, the presenting complaints are open anterior fontanelle
and dental abnormalities.
Application of indigenous preparation on the anterior fontanelle
is the most soft spot of the infant's body and it is imperative that the handling of this spot should be minimized.
Cranial ultrasonography was performed through the anterior fontanelle
with an 8 MHz curvilinear probe using a Vivid S5 General Electric Healthcare ultrasound machine (USA).
She had a firm anterior fontanelle
with a splayed sagittal suture.
The anterior fontanelle
(AF) is triangular and laterally positioned (Figure 3).
General status was well, the anterior fontanelle
had a size of 2x1.
1] Of the six fontanelles, the anterior fontanelle
(AF) is the most prominent and the most variable in size.
There was frontal and parietal bossing, open anterior fontanelle
, hypertelorism, depressed nasal bridge, high arched palate, supernumerary teeth, and clinodactyly.
Congenital subgaleal cysts over the anterior fontanelle
In the newborn, before closure of the anterior fontanelle
occurs, screening ultrasonography may clearly show ACC; it may also show parallel lateral ventricles, interhemispheric cysts, hydrocephalus, and other related anomalies.
The physical exam found fused sutures, posterior and anterior fontanelle
< 1 cm, rounded face, sinophris, ocular hypotelorism, cebocephaly, single nostril, micrognathia, flat osseous palate, and pectus excavatum (Figure 3).