Interatrial communication

Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.

Smooth philtrum

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.


Total: 2

                      


(per page)
PMID (PMCID)
28336463
FEMALE Infant
Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.
Westphal DS, Andres S, Beitzel KI, Makowski C, Meitinger T, Hoefele J.
Gene. 2017;616:41-44.
The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44.
14564157
FEMALE Infant
Interstitial deletion of chromosome 2p16.2p21.
Sanders SR, Dawson AJ, Vust A, Hryshko M, Tomiuk M, Riordan D, Prasad C.
Clin Dysmorphol. 2003;12(3):183-5.
We report on a female who presents with an atrial septal defect (ASD), mild hypotelorism, a prominent nasal bridge, a long smooth philtrum, mild developmental delay and a de novo interstitial deletion of the short arm of chromosome 2p, del (2)(p16.2p21).