We report a boy with an apparently unique cluster of congenital anomalies that included trigonocephaly, pachygyria, flat nasal root, up-slanting palpebral fissures, retinal coloboma, ventricular septal defect, and subtle skeletal peculiarities. The phenotypic features overlap those of Opitz trigonocephaly and, to a lesser degree, the CHARGE association, but are distinct from either of these disorders.
|Original language||English (US)|
|Number of pages||6|
|Journal||Dysmorphology and Clinical Genetics|
|State||Published - 1992|
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