Bifid uvula

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

Microretrognathia

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.


合計: 1

                       


（表示件数）
PMID (PMCID)
29061174
(5654040)
 MALE Infant
De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
Al Dhaibani MA, Allingham-Hawkins D, El-Hattab AW.
BMC Med Genet. 2017;18(1):118.
He also had developmental delay, cardiovascular malformation, growth failure with microcephaly, short stature, and underweight, sensorineural hearing loss, myopia, astigmatism, cryptorchidism, hypospadias, microphallus, lower extremity length discrepancy, bifid uvula, single palmer creases, and distinctive facial features including straight eyebrows, ptosis, up-slanted palpebral fissures, broad nasal bridge, low-set and posteriorly rotated ears, small mouth with thick lower lip, microretrognathia, and high-arched palate.