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Case Reports
. 2018 Jul-Sep;26(3):171-173.
doi: 10.4103/JMU.JMU_45_18. Epub 2018 May 25.

Skeletal Defect at Mid-trimester Ultrasound Scan

Pedro Brandão  1   2 , Elisa Soares  1 , Catarina Estevinho  1 , Marília Freixo  1 , Ana Sofia Portela-Carvalho  1 , Maria João Ferreira  1
Affiliations
Case Reports

Skeletal Defect at Mid-trimester Ultrasound Scan

Pedro Brandão et al. J Med Ultrasound. 2018 Jul-Sep.
No abstract available

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Ultrasound: Fetal head circumference and a biparietal diameter above the 95th centile
Figure 2
Figure 2
Ultrasound: Frontoparietal narrowing (“lemon sign”) of the cranium. No intracranial abnormalities
Figure 3
Figure 3
Ultrasound: Increased cardiothoracic ratio due to shortening of the ribs and consequent narrowed thorax
Figure 4
Figure 4
Ultrasound: Disproportion between the thoracic and the abdominal diameter - “keel” or “bell” trunk shape
Figure 5
Figure 5
Ultrasound: Short ulna (below the 5th centile)
Figure 6
Figure 6
Ultrasound: Short and curved femur (below the 5th centile)
Figure 7
Figure 7
Ultrasound: Fetal arm with short long bones
Figure 8
Figure 8
Anteroposterior postabortion X-ray of the fetus: shortened limbs with bowed bones and flared irregular metaphyses
Figure 9
Figure 9
Profile postabortion X-ray of the fetus: small long bones, narrowed thorax due to shortened ribs
See this image and copyright information in PMC

References

    1. Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: Review and update. Can Assoc Radiol J. 1999;50:185–97. - PubMed
    1. Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009;11:127–33. - PMC - PubMed
    1. Miller E, Blaser S, Shannon P, Widjaja E. Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 2009;192:48–51. - PubMed
    1. Martínez-Frías ML, de Frutos CA, Bermejo E, Nieto MA ECEMC Working Group. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010;152A:245–55. - PubMed
    1. Yüce MA, Yardim T, Kurtul M, Durukan S, Gücer F. Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report. Clin Exp Obstet Gynecol. 1998;25:149–50. - PubMed

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