New cases of Bohring-Opitz syndrome, update, and critical review of the literature
| Autor: | Patrick Thierry, Dorothy K. Grange, Grétel Oudesluijs, Giuseppe Zampino, Axel Bohring |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities Exophthalmos Bohring-Opitz syndrome review Trigonocephaly PHENOTYPE DIAGNOSIS PATIENT Craniosynostosis Genetics Medicine Hypertelorism Genetics (clinical) SEVERE END trigonocephaly business.industry C-TRIGONOCEPHALY-SYNDROME DELETION Dysostosis medicine.disease Dermatology DUPLICATION medicine.anatomical_structure Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA Forehead Nevus flammeus medicine.symptom business Bohring–Opitz syndrome |
| Zdroj: | American Journal of Medical Genetics. Part A. (12):1257-1263 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.31265 |
| Popis: | 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. We also update the clinical outcome of the patients reported in the original article by Bohring et al. [Am J Med Genet 85:438-446] and critically review the subsequently published cases considered to have Bohring-Opitz syndrome. (c) 2006 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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