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.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


Total: 3

                       


(per page)
PMID (PMCID)
29681105
 FEMALE Infant, Newborn
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome.
Kibe M, Ibara S, Inagaki H, Kato T, Kurahashi H, Ikeda T.
Am J Med Genet A. 2018;176(5):1245-1248.
Bohring-Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation.
16691589
 MIXED_SAMPLE Infant, Newborn
New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P.
Am J Med Genet A. 2006;140(12):1257-63.
We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic suture, frontal nevus flammeus, exophthalmos, hypertelorism, upslanting palpebral fissures, and cleft lip and/or palate, as well as flexion deformities of the upper limbs, multiple other anomalies, and severe failure to thrive.
10405439
 MIXED_SAMPLE Infant
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM.
Am J Med Genet. 1999;85(5):438-46.
We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs and multiple other anomalies.