Bohring-Opitz syndrome

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

Trigonocephaly

Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.

Total: 1

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PMID (PMCID)
27901041	MIXED_SAMPLE	Infant
	Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
	Kuechler A, Czeschik JC, Graf E, Grasshoff U, Huffmeier U, Busa T, Beck-Woedl S, Faivre L, Riviere JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Ludecke HJ, Wieczorek D. Eur J Hum Genet. 2017;25(2):183-191.
	The majority of key features characteristic for Bohring-Opitz syndrome were absent in our patients (eg, the typical posture of arms, intrauterine growth retardation, microcephaly, trigonocephaly, typical facial gestalt with nevus flammeus of the forehead and exophthalmos).