During physical examination, macrocephaly
with the cephalic perimeter of 56 cm (>97 centile) and plagiocephaly, height of 149 cm (25 centile), weight of 49.3 kg (60 centile), three trichoglyphs on the scalp, a prominent metopic ridge, asymmetric and dysmorphic facial features (figure 1) with a high palate were observed.
The case was assessed as BRRS based on the macrocephaly
, lipomatous lesions and pigmented macular lesions on the penis.
The patients may present with disproportionate short stature, macrocephaly
, lumbar lordosis, rhizomelic and mesomelic shortness and brachydactyly (1,2).
In the same lecture, he suggested that various physical anomalies such as asymmetry of the face or skull; macrocephaly
; strabismus; badly placed or oversized ears; enormous jaws; bad conformation of the teeth, especially the incisors; a flat or crooked nose; abundant hair on the forehead; and left-handedness were also all indications of criminality.
(1) Older infants may present with macrocephaly
, neurodevelopmental disorders and seizure.
Left ventricular cardiomyopathy and macrocephaly
can be observed, but not frequently (4).
Autistic individuals present with brain overgrowth and macrocephaly
, with individuals affected by Alzheimer's having physiologic decline in the weight of the brain and subsequent broadening of the lateral ventricles with increasing age (Skullerud, 1985; Sacco et al., 2015).
Majority of the children presented with macrocephaly
while three presented with papilloedema and sixth nerve palsy.
Representative features of achondroplasia include an average-sized trunk, short limbs and macrocephaly
Duplications or deletions at a genome region known as 1q21.1 are known to cause macrocephaly
or microcephaly, respectively, and are associated with a range of neurodevelopmental disorders, including ADHD, autism spectrum disorder, and intellectual disability.
In this case report, we present the case of a 4-year-old girl patient who presented with macrocephaly
and was diagnosed with VGAM.
The associated findings in BCNS, in addition to medulloblastoma, include macrocephaly
and dysmorphic features such as cleft lip or palate, frontal bossing, and hypertelorism.