Journal of medical genetics, 1998-10, Vol.35 (10), p.875-877
1998
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Details
- Autor(en) / Beteiligte
- Titel
- Triophthalmia and facial clefting: a case report
- Ist Teil von
- Journal of medical genetics, 1998-10, Vol.35 (10), p.875-877
- Ort / Verlag
- London: BMJ Publishing Group Ltd
- Erscheinungsjahr
- 1998
- Quelle
- Electronic Journals Library
- Beschreibungen/Notizen
- We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0022-2593, 1468-6244eISSN: 1468-6244DOI: 10.1136/jmg.35.10.875Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1051469
- Format
- –
- Schlagworte
- Biological and medical sciences, Complex syndromes, Craniofacial Abnormalities - genetics, Craniofacial Abnormalities - pathology, Eye Abnormalities - genetics, Eye Abnormalities - pathology, Face - abnormalities, Humans, Infant, Newborn, Libya, Male, Medical genetics, Medical sciences, Syndrome