Total: 1 |
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PMID (PMCID) | ||
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25230004 |
MIXED_SAMPLE | Child |
19q13.32 microdeletion syndrome: three new cases. | ||
Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM Jr. Eur J Med Genet. 2014;57(11-12):654-8. |
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Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospadias, bilateral inguinal hernias, double toenail of the left second toe, partial 2-3 toe syndactyly, kyphoscoliosis and colonic atony. |