Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
Authors:
Marta Ježová 1; Denisa Pavlovská 2; Ilga Grochová 3; Andrea Michenková 3; Pavel Vlašín 3
Authors‘ workplace:
Ústav patologie, Fakultní nemocnice Brno a Lékařská fakulta Masarykovy Univerzity, Brno
1; Klinika dětské radiologie, Fakultní nemocnice Brno
2; Centrum prenatální diagnostiky s. r. o, Brno
3
Published in:
Čes.-slov. Patol., 59, 2023, No. 2, p. 68-79
Category:
Original Articles
Overview
We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated. Perinatal autopsy and posmortem X-rays are crucial in providing a definitive diagnosis. The number of cases confirmed by genetic testing is increasing. We report our own experience with genetic skeletal disorders based on 41 illustrative fetal and neonatal cases which we encountered over a 10-year period. Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less common. Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis type 1A, diastrophic dysplasia/atelosteogenesis type 2 or mucolipidosis type 2 (I cell disease).
Keywords:
osteogenesis imperfecta – prenatal diagnosis – fetus – skeletal dysplasia – thanatophoric dysplasia – achondrogenesis
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Anatomical pathology Forensic medical examiner ToxicologyArticle was published in
Czecho-Slovak Pathology
2023 Issue 2
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