Congenital ptosis

Congenital ptosis is characterized by superior eyelid drop present at birth.

Micrognathia

Developmental hypoplasia of the mandible.


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(per page)
PMID (PMCID)
25493098
(4260201)
 OTHER
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.
Sun M, Zhang H, Li G, Wang X, Lu X, Sternenberger A, Guy C, Li W, Lee J, Zheng L, Li S.
Mol Cytogenet. 2014;7(1):76.
Clinical manifestations included micrognathia, U-type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia, bilateral clubfoot, and short fingers and toes.