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Case Reports
. 2018 Nov 5;10(11):e3543.
doi: 10.7759/cureus.3543.

A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma

Waliul Chowdhury  1 , Pooja Patak  1 , Farjahan J Chowdhury  1 , Hasnan M Ijaz  1 , Tehmina Zafar  1 , Nick Chatla  2 , Ahmad Khiami  2
Affiliations
Case Reports

A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma

Waliul Chowdhury et al. Cureus. .

Abstract

Burnside Butler syndrome or 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality that is recently being recognized. Current diagnostic techniques like chromosomal microarray analysis (CMA) have profoundly contributed to currently reported cases. The diagnostic dilemma is that prenatal screening and karyotype analysis typically yield unclear results. We would like to emphasize the importance of taking a detailed family history, knowing the classic clinical features, and using CMA to help diagnose this syndrome. We present an eight-year-old Caucasian female with a past medical history of intrauterine growth restriction, microcephaly, a high arched palate, speech delay, and a learning disability with recurrent bleeding from the eyes and oral cavity. The bleeding co-occurs whenever she develops the common cold.

Keywords: 15q11.2 microdeletion syndrome; chromosomal microarray analysis; microdeletion syndrome.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Frontal view of the patient demonstrating fine hair (black arrow) and a narrow face (red bracket)
Figure 2
Figure 2. Lateral view of the patient showing a narrow-shaped skull (green star), micrognathia (yellow star), and a flat facial profile (red bracket)
Figure 3
Figure 3. Frontal X-ray imaging of the face at age 5, which shows a slightly deviated nasal septum to the right (red star) but no structural abnormalities or fractures
Yellow star = cribriform plate, red star = nasal septum, black arrows = inferior orbital plate
Figure 4
Figure 4. Head circumference trend (black circles) from birth to 36 months. The trend shows an abnormally low head circumference relative to age, which started trending upward starting at 27 months of age
Figure 5
Figure 5. Weight and length trend (black circles) from birth to 36 months. The results show an abnormally low body weight relative to length
Figure 6
Figure 6. Weight and stature trend from two years to current age. The trend shows an abnormally lower body weight relative to stature and a consistently low body mass index (BMI)
See this image and copyright information in PMC

References

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