Cleft lip/palate

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.

Short long bone

One or more abnormally short long bone.


Total: 2

                       


(per page)
PMID (PMCID)
29241927
 FEMALE Adult
Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Chen LF, Wang W.
Taiwan J Obstet Gynecol. 2017;56(6):821-826.
Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones.
29241927
 FEMALE Adult
Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Chen LF, Wang W.
Taiwan J Obstet Gynecol. 2017;56(6):821-826.
Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.