Omphalocele

Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


Total: 2

                       


(per page)
PMID (PMCID)
25510709
 MIXED_SAMPLE Adult
Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.
Hou WC, Chen CP, Hwang KS, Chen YC, Lai YJ, Tien CY, Su HY.
Taiwan J Obstet Gynecol. 2014;53(4):602-5.
After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence.
1790023
 FEMALE Infant, Newborn
Short clinical report: a new case with de novo partial 9p monosomy.
Nagy E, Bod M, Nemeth I, Timar L.
Acta Paediatr Hung. 1991;31(4):407-13.
A female patient is described with a karyotype 46,XX,del (9) (p22) showing characteristic dysmorphic phenotype: trigonocephaly, prominent forehead, long philtrum, small mouth, high arched palate, low set ears, short neck, widely spaced nipples, long fingers and toes, omphalocele.