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. 2025 Apr 17;18(4):e265494.
doi: 10.1136/bcr-2025-265494.

Early diagnosis and neonatal management of Turner syndrome with disproportionate short stature and coarctation of the aorta

Fatma Alhasni  1 , Muhammed Riyas Rahmath  1 , Mohammad A A Bayoumi  2 , Einas Elzubier Elmalik  1
Affiliations

Early diagnosis and neonatal management of Turner syndrome with disproportionate short stature and coarctation of the aorta

Fatma Alhasni et al. BMJ Case Rep. .
No abstract available

Keywords: Cardiovascular medicine; Genetics; Neonatal health; Neonatal intensive care; Paediatrics.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1. Some clinical features of TS noted on admission included (A) high-arched (Gothic) palate, (B) low-set prominent malformed ears, (C) webbed neck and (D) low posterior hairline. TS, Turner syndrome.
Figure 2
Figure 2. Other clinical features of TS noted on admission included (A) hypoplastic concave spoon-shaped nails with short fourth and fifth metacarpals, (B) widely spaced nipples and broad chest and (C) absent lateral two digits on the left foot with oedema over the dorsum of the foot. TS, Turner syndrome.
Figure 3
Figure 3. A preoperative TTE on the second day of life showing (A) a preoperative two‐dimensional TTE with colour mapping obtained from a suprasternal long‐axis view demonstrating a discrete CoA (narrowest area pointed with yellow arrow) and (B) a preoperative continuous-wave Doppler across the area of CoA. The peak gradient of 27 mm Hg with a typical diastolic runoff pattern consistent with a pressure gradient throughout the diastole. AAO, ascending aorta; CoA, coarctation of the aorta; DAO, descending aorta; TTE, transthoracic echocardiogram.
Figure 4
Figure 4. Abdominal ultrasound showing a multicystic dysplastic left kidney. The left kidney showed multiple cystic lesions, in which the largest is 1.7×2 cm, with dysplastic kidney tissue indicating multicystic dysplastic kidney.
Figure 5
Figure 5. Postoperative TTE showing (A) a postoperative two‐dimensional TTE with colour mapping showing a widely patent aortic arch (yellow arrowhead) and (B) a postoperative continuous‐wave Doppler across the aortic arch showing no significant gradient across the aortic arch. AAO, ascending aorta; DAO, descending aorta; TTE, transthoracic echocardiogram.
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References

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