TY - JOUR
T1 - Syndrome identification #149
T2 - Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome
AU - Ramer, Jeanette
AU - Mascari, M. J.
AU - Manders, E.
AU - Ladda, R. L.
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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.
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M3 - Article
AN - SCOPUS:0026526197
SN - 0893-6633
VL - 6
SP - 15
EP - 20
JO - Dysmorphology and Clinical Genetics
JF - Dysmorphology and Clinical Genetics
IS - 1
ER -