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Fetal facial defects: associated malformations and chromosomal abnormalities
- Source :
- Fetal diagnosis and therapy. 8(1)
- Publication Year :
- 1993
-
Abstract
- During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48%) with cleft lip and palate, in 5 of 11 (45%) with severe hypotelorism or cyclops, and in 6 of 19 (32%) with nasal hypoplasia, proboscis or single nostril. Macroglossia was mainly associated with trisomy 21, micrognathia with trisomy 18 and triploidy, facial cleft with trisomies 13 and 18, and ocular or nasal defects with trisomy 13. In all chromosomally abnormal fetuses with facial defects, there were additional multisystem defects, and the pattern of these malformations was compatible with the type of the underlying chromosomal abnormality. In the total series of 2,086 fetuses with malformations and/or growth retardation, there were 31 with trisomy 13, 83 with trisomy 18 and 69 with trisomy 21; facial defects were found in 71, 36 and 14% of these fetuses, respectively.
- Subjects :
- Embryology
Pathology
medicine.medical_specialty
Micrognathism
Aneuploidy
Prenatal diagnosis
Nose
Ultrasonography, Prenatal
Congenital Abnormalities
Macroglossia
Pregnancy
Hypotelorism
medicine
Humans
Radiology, Nuclear Medicine and imaging
Abnormalities, Multiple
Eye Abnormalities
Chromosome Aberrations
Fetus
business.industry
Facial cleft
Obstetrics and Gynecology
Karyotype
General Medicine
Anatomy
medicine.disease
stomatognathic diseases
Face
Karyotyping
Pediatrics, Perinatology and Child Health
Female
medicine.symptom
Trisomy
business
Subjects
Details
- ISSN :
- 10153837
- Volume :
- 8
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Fetal diagnosis and therapy
- Accession number :
- edsair.doi.dedup.....d850a64de820f0762eb9a3f9c005bb36