Total: 1 |
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PMID (PMCID) | ||
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7258228 |
MIXED_SAMPLE | Child |
Further delineation of the C (trigonocephaly) syndrome. | ||
Antley RM, Hwang DS, Theopold W, Gorlin RJ, Steeper T, Pitt D, Danks DM, McPherson E, Bartels H, Wiedemann HR, Opitz JM. Am J Med Genet. 1981;9(2):147-63. |
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The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, short limbs, and joint dislocations and/or contractures); visceral defects (congenital heart defects, cryptorchidism, and abnormal lobulations of the lungs and kidneys). |