ESPE Abstracts (2014) 82 P-D-3-2-860

Clinical Expression of Familial Williams-Beuren Syndrome in a Turkish Family

Mesut Parlaka, Banu Guzel Nurb, Ercan Mihcib, Erdem Durmaza, Sibel Berker Karaüzümc, Sema Akcurina & Iffet Bircana


aDepartment of Pediatric Endocrinology, Akdeniz University School of Medicine, Antalya, Turkey; bDepartment of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey; cDepartment of Medical Biology and Genetics, Akdeniz University School of Medicine, Antalya, Turkey


Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.

Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial short stature.

Method: FISH analysis in metaphase spreads and interphase nuclei showed microdeletion in the chromosomal band 7q11.23, using the commercial Williams–Beuren probe (Cytocell, cat. no: LPU011-S). This probe contains three clones that are situated at: Chr7: 72851047–72999295 (148 kb), Chr7: 73508472–73652590 (144 kb), Chr7: 73709072–73912798 (204 kb).

Results: FISH analysis showed microdeletion in the chromosomal band 7q11.23 with all cases.

Case 1: Eight-year-old female patient height and weight were 109.5 cm (<−2 S.D., WBS), 17 kg (<−2 S.D., WBS). Elfin face, 2/6 pansystolic murmur and hoarse voice were detected. Breast development and pubic hair were of Tanner stage 1. Serum free T4 (fT4): 1.17 ng/dl, TSH: 7.77 μIU/ml (n: 0.27–4.20), calcium level 10.6 mg/dl, and echocardiogram showed a patent foramen ovale.

Case 2: Three-year-old male patient height and weight were 83.7 cm (−1/−2 S.D., WBS) and 12 kg (−1/0 S.D., WBS). Elfin face, 2/6 systolic murmur, hoarse voice were detected. Serum fT4: 1.19 ng/dl, TSH: 8.66 μIU/ml, calcium level 9.4 mg/dl, and echocardiogram showed moderate aortic stenosis.

Case 3: The father of the two siblings was evaluated at 44 years old age. His height and weight were 156 cm (<−2 S.D., WBS) and 45 kg (0/−1 S.D.,WBS).

Conclusion: Feeding problems, cardiac abnormalities, celiac disease, subclinical hypothyroidism, and GH deficiency (GHD) may be the reasons of short stature in WBS. We suggest that parents with WBS may affect height extension of their children and a decrease of their final height.

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