|
Total: 3 |
|
| PMID (PMCID) | ||
|---|---|---|
|
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. |
||
| 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. | ||
|
18328045 |
FEMALE | |
| Solitary median maxillary central incisor syndrome occurring together with oromandibular-limb hypogenesis syndrome type 1: a case report of this previously unreported combination of syndromes. | ||
|
Lertsirivorakul J, Hall RK. Int J Paediatr Dent. 2008;18(4):306-11. |
||
| She had a median submucosal cleft palate and severe micrognathia with hypoglossia. | ||
|
9426272 |
MIXED_SAMPLE | Infant, Newborn |
| A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. | ||
|
Nishimura G, Nakayama M, Fuke Y, Suehara N. Pediatr Radiol. 1998;28(1):43-7. |
||
| The patients showed various dysmorphic features including aniridia, a long palpebral fissure, prominent nasal bridge, beaked nose, flat philtrum, low-set fleshy ears, micrognathia with submucosal cleft palate, and multiple joint contractures. | ||