Open Access21-week pregnancy with trisomy 18 (Edwards syndrome) − bone malformations highlighted
Author(s) -
Bogdan Botezatu,
Mihai Mitran
Publication year - 2018
Publication title -
ginecologia.ro
Language(s) - English
Resource type - Journals
eISSN - 2457-3566
pISSN - 2344-2301
DOI - 10.26416/gine.20.2.2018.1712
Subject(s) - hypertelorism , microcephaly , medicine , palpebral fissure , trisomy , anatomy , ptosis , frontal bossing , eyelid , biology , surgery , pediatrics , genetics
Edwards syndrome, also known as Trisomy 18 (T18) or Trisomy E, is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput); low-set, malformed ears; abnormally small jaw (micrognathia); cleft lip/cleft palate; upturned nose; narrow eyelid folds (palpebral fissures); widely spaced eyes (ocular hypertelorism); drooping of the upper eyelids (ptosis); a short breast bone; clenched hands; choroid plexus cysts; underdeveloped thumbs and or nails, absent radius, webbing of the second and third toes; clubfoot; and in males, undescended testicles. The diagnosis of Trisomy 18 is by ultrasound and amniocentesis, the fetal DNA being examined for genetic abnormalities. Therapeutic abortion can be done.