Total: 2 |
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PMID (PMCID) | ||
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18536049 |
FEMALE | Infant |
Delineation of the proximal 3q microdeletion syndrome. | ||
Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M. Am J Med Genet A. 2008;146A(13):1729-35. |
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The patient has distinct facial features including brachycephaly, broad and prominent forehead, flat nasal bridge, prominent ears, anteverted nose, tetralogy of Fallot, bilateral cryptorchidism, and peripheral skeletal abnormalities. | ||
17041938 |
FEMALE | Infant, Newborn |
Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? | ||
Guion-Almeida ML, Richieri-Costa A. Am J Med Genet A. 2006;140(22):2478-81. |
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Here we report on a girl presenting with midline cleft lip/palate, prominent forehead, macrocephaly, first branchial arch anomalies, and tetralogy of Fallot. |