Gomez and Lopez-Hernandez described a syndrome bearing their names. The diagnosis can be easily missed if some of the clinical findings are mild.
Inheritance: spontaneous dominant or de novo chromosomal mutation
Gene affected: uncertain; implicated genes include ACP2, Tlx-1, Tlx-3
Key features (triad):
(1) rhombencephalosynapsis (RS) seen on head imaging studies
(2) bilateral parietal alopecia
(3) trigeminal anesthesia
Rhomboencephalosynapsis includes:
(1) dorsal fusion of the cerebellar hemispheres
(2) agenesis or hypogenesis of the vermis
(3) fusion of the dentate nuclei and the superior cerebellar peduncles
(4) variable hydrocephalus or ventriculomegaly
(5) variable absence of septum pellucidum
(6) variable hypoplasia of the corpus callosum
(7) variable keyhole appearance of fourth ventricle in horizontal MRI scan
Additional findings include:
(1) turricephaly (oxycephaly)
(2) craniofacial dysmorphic findings:
(2a) midface hyoplasia
(2b) hypertelorism
(2c) ears that are low set and posteriorly rotated
(2d) thin lips
(3) short stature
(4) variable intelletual impairment
(5) ataxia
(6) strabismus
(7) clinodactyly
(8) corneal opacities (secondary to trigeminal anesthesia and repeated microtraumas)
