(Opitz Trigonocephaly-like syndrome, Bohring-Opitz syndrome, Oberklaid-Danks syndrome, BOS)
Prevalence < 1/106. Mutation of the ASXL1 gene (20q11.21). Sporadic cases. Phenotype similar to the C syndrome.
- intrauterine growth retardation
- failure to thrive and eating disorders
- dysmorphism: prominent metopic ridge, nevi flammei on the forehead, low frontal hairline with hirsutism, chubby cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and cleft palate, retrognathia and low-set ears
- elbow and wrist flexion, camptodactyly, ulnar deviation of the fingers, deep plantar creases.
- sometimes sacral dimple and spina bifida occulta
- risk of nephroblastoma (Wilms Tumor)
short stature, risk of difficult intubation, difficult venous access
- Bohring A, Grétel G, Oudesluijs GG, Grange DK, Zampino G, Thierry P.
New cases of Bohring–Opitz syndrome, update, and critical review of the literature.
Am J Med Genet Part A 2006; 140A:1257–63
Updated: December 2017