In:
Prenatal Diagnosis, Wiley, Vol. 42, No. 12 ( 2022-11), p. 1503-1510
Kurzfassung:
What's already known about this topic? Postmortem radiologic diagnosis of Blomstrand osteochondrodysplasia (BOCD) has been well characterized. However, no specific antenatal ultrasound finding has been implemented in the diagnosis of this ultrarare skeletal dysplasia, except for severe tetramicromelia. What does this study add? It's emphasized that severe retro‐micrognathia may be a remarkable feature, in addition to previously well‐documented prenatal findings in BOCD. Meticulous prenatal ultrasound evaluation is required for the detection of flaring of metaphyses. Other ultrasound findings are proptosis, cervical hyperextension, and kyphoscoliosis.
Materialart:
Online-Ressource
ISSN:
0197-3851
,
1097-0223
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2022
ZDB Id:
1491217-X