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Table of Contents
Year : 2018  |  Volume : 26  |  Issue : 2  |  Page : 115-117

Skeletal defect at mid-trimester ultrasound scan

1 Department of Obstetrics and Gynaecology, Centro HospitalarTâmega E Sousa; Faculty of Medicine, University of Porto, Porto, Portugal
2 Department of Obstetrics and Gynaecology, Centro HospitalarTâmega E Sousa, Porto, Portugal

Date of Submission28-Dec-2017
Date of Acceptance29-Mar-2018
Date of Web Publication12-Jun-2018

Correspondence Address:
Dr. Pedro Brandao
Department of Obstetrics and Gynaecology, Centro HospitalarTâmega E Sousa, Avenida Do Hospital Padre Américo 210, 4564-007, Penafiel, Porto
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JMU.JMU_44_18

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How to cite this article:
Brandao P, Soares E, Estevinho C, Freixo M, Portela-Carvalho AS, Ferreira MJ. Skeletal defect at mid-trimester ultrasound scan. J Med Ultrasound 2018;26:115-7

How to cite this URL:
Brandao P, Soares E, Estevinho C, Freixo M, Portela-Carvalho AS, Ferreira MJ. Skeletal defect at mid-trimester ultrasound scan. J Med Ultrasound [serial online] 2018 [cited 2022 Aug 18];26:115-7. Available from: http://www.jmuonline.org/text.asp?2018/26/2/115/234313

  Section 1 — Quiz Top

  Case Description Top

A 25-year-old primigravida, unemployed, was sent to our outpatient clinic at the 10th week of gestation because of gestational diabetes diagnosed during the first trimester of pregnancy and multinodular goiter with normal thyroid function. She was supplemented with 5 mg of folic acid and 200 μg of iodine per day.

First trimester combined screening revealed reduced risk for aneuploidies: trisomy 21 (1:16,185), 18, and 13 (1:100,000) with pregnancy-associated plasma protein-A = 3 MoM and free beta-human chorionic gonadotropin = 0.92 MoM. At ultrasound there was a live fetus with a cephalocaudal length of 65.9 mm (gestational age of 12 weeks and 6 days) and a nuchal translucency of 2.8 mm (above the 95thcentile), normal Doppler of ductus venosus, and normal nasal bones. Skull, brain, spine, abdominal wall, stomach, kidneys, bladder, both hands, and feet were scanned and no abnormalities were found. The placenta was located on the anterior wall of the uterus and the amniotic fluid was normal.

At the mid-trimester, US scan performed at 20 weeks and 5 days of gestation, she had a live fetus in breech position. The amniotic fluid was slightly increased. The fetus had a head circumference of 203 mm and a biparietal diameter of 55.8 mm, both above the 95th centile for gestational age [Figure 1]. The skull had a frontoparietal narrowing in transverse view ("lemon sign"), with no apparent intracranial abnormalities including cystic structures, midline shift, or ventricular dilatation [Figure 2]. The cerebellum diameter was appropriate for gestational age (21.6 mm).
Figure 1: Ultrasound: Fetal head circumference and a biparietal diameter above the 95th centile

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Figure 2: Ultrasound: Frontoparietal narrowing ("lemon sign") of the cranium. No intracranial abnormalities

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The face had no apparent dysmorphism, with full integrity of the upper lip, inner-palate, and nose, as well as normal crystallins. Fetal facial profile was normal, with no apparent mandibular hypoplasia and nasal bones had an adequate size (7.15 mm).

In a cross-section view of the trunk, there was an increased cardiothoracic ratio [Figure 3]; in the sagittal section, there was a clear disproportion between the thoracic and the abdominal diameter conferring a “keel” or “bell” shape to the trunk, suggesting shortening of the ribs [Figure 4]. There were no other intrathoracic abnormalities, including lung, heart, or the mediastinum. The stomach, both kidneys, bladder and external (male) genitalia were normal.
Figure 3: Ultrasound: Increased cardiothoracic ratio due to shortening of the ribs and consequent narrowed thorax

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Figure 4: Ultrasound: Disproportion between the thoracic and the abdominal diameter - “keel” or “bell” trunk shape

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The spine was normal with no signs of deviations or myelomeningocele. Concerning the limbs, the fetus had obvious shortening of the long bones, with a humerus of 16.6 mm, ulna of 19 mm, femur of 9 mm and fibula of 16.5 mm, all below the 5th centile for gestational age. Both the femur and humerus had a slight curvature with a “telephone receiver-like appearance” [Figure 5], [Figure 6], [Figure 7].
Figure 5: Ultrasound: Short ulna (below 5th centile)

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Figure 6: Ultrasound: Short and curved femur (below 5th centile)

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Figure 7: Ultrasound: Fetal arm with short long bones

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Postabortion face and profile radiographies confirmed these findings [Figure 8] and [Figure 9].
Figure 8: Anteroposterior postabortion X-ray of the fetus: shortened limbs with bowed bones and flared irregular metaphyses

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Figure 9: Profile postabortion X-ray of the fetus: small long bones, narrowed thorax due to shortened ribs

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  What Is the Diagnosis? Top

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]

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