Bohring syndrome

[MIM 605 039]

(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.
Clinical presentation:

-        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)

Anesthetic implications:

short stature, risk of difficult intubation, difficult venous access

References :

-        Bohring A, Grétel G, Oudesluijs GG, Grange DK, Zampino G, Thierry P.
New cases of BohringOpitz syndrome, update, and critical review of the literature.
Am J Med Genet Part A 2006; 140A:125763

Updated: December 2017