Table 2 Other diagnostic findings of GGS reported by Gorlin et al. [8]

A. Skeletal anomalies [4, 8]

1. Bifid ribs, splayed/fused ribs, absent/rudimentary ribs (60–75%)

2. Scoliosis — seen in 30–40% of the patients

3. Hemivertebrae

4. Flame-shaped lucencies of hand/feet

5. Polydactyly

6. Syndactyly

7. Shortened 4th metacarpal

B. Craniofacial anomalies [4, 8]

1. Frontal bossing (25%)

2. Brachycephaly

3. Macrocephaly (40%)

4. Coarse face (50%)

5. Calcification of the falxes (37–79%)

6. Tentorium cerebellum calcification

7. Bridged sella tursica

8. Heavy fused eyebrows

9. Broadened nasal root

C. Neurological anomalies [4, 8]

1. Agenesis/dysgenesis of corpus callosum

2. Congenital hydrocephalus

3. Mental retardation

4. Medulloblastoma (3–5%) — developing in the first 2 years of life

5. Meningioma

6. Schizoid personality

D. Oropharyngeal anomalies [4, 8]

1. Cleft lip/palate (4%)

2. High arched palate or prominent ridges (40%)

3. Odontogenic keratocysts

4. Malocclusions

5. Dental ectopic position

6. Impacted teeth and/or agenesis

E. Anomalies of the reproductive system [4, 8]

1. Uterine and ovarian fibromas (15%)

2. Calcified ovarian cysts

3. Supernumerary nipple

4. Hypogonadism and cryptorchidism

5. Female distribution of the pubis hair, scarce beard in men, and gynecomastia

F. Ophthalmic anomalies [4, 8]

1. Hypertelorism (40%)

2. Glaucoma

3. Exotropia choroidal and/or optic nerve coloboma

4. Congenital amaurosis, congenital blindness and opaque cornea

5. Cataracts

6. Internal strabismus

G. Skin anomalies [4, 8]

1. Basal cell carcinoma

2. Palmar and/or plantar pits

H. Cardiac anomalies [4, 8]

1. Cardiac fibromas (3%)