Trisomy 18

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.

Overlapping fingers

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.


Total: 7

                       


(per page)
PMID (PMCID)
29264327
(5724052)
 OTHER
Pancreatic hamartoma in a premature Trisomy 18 female.
Delgado PI, Correa-Medina M, Rojas CP.
Autops Case Rep. 2017;7(4):26-29.
Postmortem examination exhibited numerous features associated with Trisomy 18 including lanugo on the torso and arms, micrognathia, microstomia, left low-set ear with small flat pinna, closed ear canal, clenched fists with overlapping fingers, rocker-bottom feet, narrow pelvis, large right diaphragmatic hernia and left pulmonary hypoplasia.
26305313
 MALE Infant, Newborn
Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association.
Kislal FM, Altuntas N, Ozdemir O, Ceylaner S, Kislal MH, Andiran N.
J Coll Physicians Surg Pak. 2015;25(8):619-20.
The case of a newborn male with trisomy 18 syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented.
17472040
 FEMALE
Dental findings and dental care management in trisomy 18: case report of a 13-year-old "long-term survivor".
Ribeiro RR, dos Santos BM, Stuani AS, de Freitas AC, de Queiroz AM.
Spec Care Dentist. 2006;26(6):247-51.
Trisomy 18 is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects.
12566768
 FEMALE Adult
Umbilical cord pseudocyst in a fetus with trisomy 18.
Kuwata T, Matsubara S, Izumi A, Odagiri K, Tsunoda T, Watanabe T, Taniguchi N, Sato I.
Fetal Diagn Ther. 2003;18(1):8-11.
The combination of cord pseudocysts, growth restriction, and polyhydramnios prompted us to perform a detailed ultrasonographic examination (gray scale and three-dimensional), which revealed the presence of micrognathia, overlapping fingers, and congenital heart defects, features characteristic of trisomy 18.
8116670
 FEMALE Infant, Newborn
An infant with double trisomy (48,XXX, + 18)
Jaruratanasirikul S, Jinorose U.
Am J Med Genet. 1994;49(2):207-10.
She presented with manifestations of trisomy 18: prominent occiput, microphthalmia, small mouth, micrognathia, malformed ears, congenital heart defect, overlapping fingers, talipes equinovarus, and rockerbottom feet.
7802005
 MALE Infant, Newborn
Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.
Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J.
Am J Med Genet. 1994;52(2):178-83.
We report on an infant who presented at birth with some characteristics of trisomy 18 syndrome, including low birth weight, facial abnormalities, overlapping fingers, and congenital heart defects.
487637
 MALE Infant
Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q).
Bass HN, Sparkes RS, Miller AA.
Clin Genet. 1979;16(3):163-8.
Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet.