[MIM 211 750]

(Opitz 'C' Trigonocephaly)

Extremely rare. Association of trigonocephaly, with multiple congenital anomalies and in general severe mental

retardation. Mutation of the CD96 gene (3q13.1-13.2). 

In addition to trigonocephaly, one can observe:

-         diaphragmatic hernia

-         cardiac malformation (50 %)

-         renal abnormalities: dysplasia, cyst, agenesis

-         short limbs, with flexion deformities

-         syndactyly, postaxial polydactyly in general

-         micrognathia (sometimes cleft palate), multiple tongue-ties

-         facial dysmorphism:  upslanted palpebral fissures; epicanthus; a narrow pointed forehead; a flat broad nasal  bridge with a short nose; flat philtrum;  low set, posteriorly rotated ears

-         sometimes, neck lymphedema

-         sacral dimple

Anesthetic implications:

echocardiography, evaluation of the renal function; management of a diaphragmatic hernia; craniosynostosis; risk of difficult intubation/mask ventilation

References : 

Updated: August 2014