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.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
18947004
 MALE Adult
Trisomy 18 syndrome with incomplete Cantrell syndrome.
Hou YJ, Chen FL, Ng YY, Hu JM, Chen SJ, Chen JY, Su PH.
Pediatr Neonatol. 2008;49(3):84-7.
The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity.
17974172
 FEMALE Infant, Newborn
[Pentalogy of Cantrell--a case report].
Vulkova A, Kovacheva K, Rosmanova R, Simeonova M.
Akush Ginekol (Sofiia). 2007;46(6):41-3.
The newbom had multiple congenital anomalies: omphalocele, thoracoabdominal ectopia cordis, diaphragmatic defect, short sternum/sternal defect and dysmorphic features--microcephaly, hypertelorism, down slanted palpebral fissures, micrognathia, low set ears.
15793836
 FEMALE Infant, Newborn
A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
Ounap K, Ilus T, Bartsch O.
Am J Med Genet A. 2005;134(4):434-8.
She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy-Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q) syndrome previously.
12566772
 FEMALE
Prenatal diagnosis of double autosomal mosaicism (47,XX,+8/47,XX,+14): phenotype and molecular cytogenetic analysis on different tissues.
Matheson JK, Matheson VA, McCorquodale M, Santolaya-Forgas J.
Fetal Diagn Ther. 2003;18(1):29-32.
At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects.
12174971
 MALE Infant, Newborn
Midline developmental anomalies in Down syndrome.
Kieslich M, Fuchs S, Vlaho S, Maisch U, Boehles H.
J Child Neurol. 2002;17(6):460-2.
We report a boy born spontaneously in the 37th postconceptional week with multiple malformations: microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic palmar and plantar creases.
10649795
 FEMALE
Dandy-Walker anomaly in Meckel-Gruber syndrome.
Cincinnati P, Neri ME, Valentini A.
Clin Dysmorphol. 2000;9(1):35-8.
We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus.
7573156
 MALE Infant
Partial trisomy 13q identified by sequential fluorescence in situ hybridization.
Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, Say B.
Am J Med Genet. 1995;58(1):50-3.
The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13.