Total: 1 |
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PMID (PMCID) | ||
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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. |
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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. |