Our patient was diagnosed as having Gorlin-Goltz syndrome with numerous BCCs and falx cerebri calcifications, which are among the major criteria, and macrocephaly, frontal bossing
, hypertelorism, and presence of medullablastoma, which are among the minor criteria.
In the present study, frontal bossing
was recorded in 58% and parietal bossing in 88% whereas Girinath et al36 reported frontal bossing
in 74% and parietal bossing in 28%.
4) Other features include polyhydramnios, large head, frontal bossing
, cloverleaf skull, prominent eyes, hypertelorism, small pelvis and a depressed nasal bridge.
The primary findings include hypertelorism, macrocephaly with frontal bossing
, and polysyndactyly.
Facial features were frontal bossing
, saddle shaped nose, thick everted lips and low set large ears (Figure 1) Oral cavity showed partial adontia, with only one incisor tooth present in the upper jaw (Figure 2).
General impression: Malnourished infant with marked frontal bossing
& sun-setting eyes, inconsolable with weak high-pitched cry.
Many of the characteristic features were present in our patient such as frontal bossing
, hypetelorism, depressed nasal bridge, delayed eruption of permanent teeth, presence of multiple supernumerary teeth and ability to approximate shoulders in front of the chest.
Figure 2: Showing (i) coarse edematous facies (ii) frontal bossing
(iii) depressed nasal bridge (iv) hypertelorism (v) prominent eyes (vi) short neck.
Skeletal survey revealed a mildly hyperostotic skull, with mild frontal bossing
No further frontal bossing
has developed during the 3-year follow-up period.
Clinical features of rickets include failure to thrive and short stature, frontal bossing
, delayed closure of the anterior fontanelle, delayed dentition, bowing of weight-bearing bones, and hypotonia.
, hypoplastic nasal bridge were noted.