Edward syndrome is?

Ans. B. Trisomy 18. (Ref OP Ghai 7th /pg. 614)EDWARD SYNDROME (Trisomy 18)# Although much rarer than Down syndrome (trisomy 21), it is the 2nd commonest autosomal trisomy, more common than Patau syndrome (trisomy 13)# Incidence: 1 in 3500 and 1 in 7000.# It is also associated with increased maternal age.# Of the affected infants some 80-90 % die within the first week usually from cardiopulmonary failure.# A few cases have been reported surviving into the teens, but they were all found profoundly retarded.- Features* Obstetrics: There is often polyhydramnios and IUGR, single umbilical artery.* Head Neck: Cranium is long and narrow with prominent occiput (strawberry shaped) and cystic hygroma (not commonly seen though, esp when compared to Turner's syndrome).* Face: Ears are low set and underdeveloped, (hypotelorism). Abnormal facies with micrognathia and narrow sloping palpebral fissures and Facial cleft.* Hands: Clenched hands; 2nd and 5th fingers overlapping the 3rd and 4th fingers. (>60%, characteristic)* Other flexion deformities may also be there. Hypoplastic nails.* Arms: Shortened radial ray.* Foot: Rocker bottom feet, clubbed foot.* GIT (common):Intestinal atresias, malabsorption, T-0 fistula, thin diaphragm and diaphragmatic hernia, omphalocele and exomphalos.* Renal: Renal hypoplasia/cystic dysplasia, PCKD, horseshoe kidney, PUJ obstruction.* Heart: VSD, complete AV canal, DORV.* Ocular: Hypotelorism.* Neural tube defects: Holoprosencephaly, choroid plexus cyst, small cerebellum with prominent cistema magna, myelomeningocele.Patau (trisomy 13):Incidence1:5,000 births.OBSSevere IUGR, hydramnios.CNSMicrocephaly, Alobar holoprosencephaly, posterior encephalocele, scalp defect, neural tube defect.FaceMidline labial cleft (Cleft lip & palate), proboscis, hypotelorism, cyclopia, anophthalmia, small earsEyesMicrophthalmos; anophthalmos; cyclopia in some cases; dysgenesis of anterior segment (iris hypoplasia, iris adhesions, chamber angle abnormalities); corneal opacities; congenital glaucoma; cataracts; persistent hyperplastic primary Vitreous; retinal dysplasia; colobomas of iris, ciliary body, fundus; intraocular cartilage, optic nerve hypoplasia.SkeletonPostaxial polydactyly, rocker bottom feet.HeartVSD, echogenic chorde tendinae, hypoplastic ventricle, TOF, transposition.KidneyPCKD, horseshoe kidney.GlOmphalocele (occasionally)D/dMeckel Gruber syndromeAdditional Educational points:# Trisomy-21 is Down syndrome.# Deletion of short arm of 5th chromosome is Cri-du-Chat syndrome.# Patients with following disease are at higher risk of developing leukemia = Down syndrome, Klinefelter's syndrome, Patau syndrome, excessive chromosomal fragility syndromes like Fanconi's anemia, Bloom syndrome, ataxia telangiectasia, and Kostmann syndrome).