Clinical expression of familial Williams-Beuren syndrome in a Turkish family
-
Mesut Parlak
,
Banu Güzel Nur
Abstract
Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability with a typical neurobehavioral profile, cardiovascular anomalies, and occasional infantile hypercalcemia. Majority of cases occur sporadically, and only a few cases of familial WBS have been reported. Although pre- and post-natal growth retardation is a common clinical feature of the syndrome, growth hormone deficiency is detected only in a few patients. To our knowledge, there has only been one report about familial Williams-Beuren syndrome in the Turkish population. Here, we report on the three molecular cytogenetically confirmed familial Williams-Beuren syndromes detected in a family with familial short stature. The father, daughter, and son analyzed with clinical and laboratory findings, and reasons of the short stature in Williams-Beuren syndrome are discussed through the literature.
References
1. Elçioglu N, Mackie-Ogilvie C, Daker M, Berry AC. FISH analysis in patients with clinical diagnosis of Williams syndrome. Acta Paediatr 1998;87:48–53.10.1080/08035259850157868Suche in Google Scholar
2. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962;26:1235–40.10.1161/01.CIR.26.6.1235Suche in Google Scholar
3. Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet 2010;128:3–26.10.1007/s00439-010-0827-2Suche in Google Scholar
4. Pankau R, Siebert R, Kautza M, Schneppenheim R, Gosch A, et al. Familial Williams-Beuren syndrome showing varying clinical expression. Am J Med Genet 2001;98:324–9.10.1002/1096-8628(20010201)98:4<324::AID-AJMG1103>3.0.CO;2-5Suche in Google Scholar
5. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, et al. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001;29:321–5.10.1038/ng753Suche in Google Scholar
6. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11–6.10.1038/ng0993-11Suche in Google Scholar
7. Martin ND, Smith WR, Cole TJ, Preece MA. New height, weight and head circumference charts for British children with Williams syndrome. Arch Dis Child 2007;92:598–601.10.1136/adc.2006.107946Suche in Google Scholar
8. Xekouki P, Fryssira H, Maniati-Christidi M, Amenta S, Karavitakis EM, et al. Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy. J Pediatr Endocrinol Metab 2005;18:205–7.Suche in Google Scholar
9. Morris CA, Thomas IT, Greenberg F. Williams syndrome: autosomal dominant inheritance. Am J Med Genet 1993;47:478–81.10.1002/ajmg.1320470409Suche in Google Scholar
10. Sadler LS, Robinson LK, Verdaasdonk KR, Gingell R. The Williams syndrome: evidence for possible autosomal dominant inheritance. Am J Med Genet 1993;47:468–70.10.1002/ajmg.1320470406Suche in Google Scholar
11. Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M. Familial Williams-Beuren syndrome. Am J Med Genet 1998;80:491–3.10.1002/(SICI)1096-8628(19981228)80:5<491::AID-AJMG10>3.0.CO;2-JSuche in Google Scholar
12. Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. Clin Dysmorphol 2005;14:61–5.10.1097/00019605-200504000-00002Suche in Google Scholar
13. Rafati M, Seyyedaboutorabi E, Brujerdi R, Moossavi S, Ghaffari SR. Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis. Clin Dysmorphol 2012;21:118–23.10.1097/MCD.0b013e3283520539Suche in Google Scholar
14. Cortada X, Taysi K, Hartmann AF. Familial Williams syndrome. Clin Genet 1980;18:173–6.10.1111/j.1399-0004.1980.tb00866.xSuche in Google Scholar
15. Akçoral A, Ozaksoy D, Oran B, Narin N, Cevik NT. A new and rare form of Williams syndrome. Acta Paediatr Jpn 1993;35: 247–51.10.1111/j.1442-200X.1993.tb03046.xSuche in Google Scholar
16. Partsch CJ, Pankau R, Blum WF, Gosch A, Wessel A. Hormonal regulation in children and adults with Williams-Beuren syndrome. Am J Med Genet 1994;51:251–7.10.1002/ajmg.1320510316Suche in Google Scholar
17. Partsch CJ, Dreyer G, Gosch A, Winter M, Schneppenheim R, et al. Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. J Pediatr 1999;134:82–9.10.1016/S0022-3476(99)70376-8Suche in Google Scholar
18. Kuijpers GM, De Vroede M, Knol HE, Jansen M. Growth hormone treatment in a child with Williams-Beuren syndrome: a case report. Eur J Pediatr 1999;158:451–4.10.1007/s004310051118Suche in Google Scholar
19. Spadoni GL, Colloridi V, Finocchi G, Manca Bitti ML, Chini L, et al. Williams syndrome and growth hormone deficiency. J Pediatr 1983;102:640.10.1016/S0022-3476(83)80214-5Suche in Google Scholar
20. Pankau R, Partsch CJ, Gosch A, Oppermann HC, Wessel A. Statural growth in Williams-Beuren syndrome. Eur J Pediatr 1992;151:751–5.10.1007/BF01959084Suche in Google Scholar PubMed
21. Committee on Genetics. American Academy of Pediatrics: health care supervision for children with Williams syndrome. Pediatrics 2001;107:1192–204.10.1542/peds.107.5.1192Suche in Google Scholar
22. Jakob A, Unger S, Arnold R, Grohmann J, Kraus C, et al. A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death. Cardiol Young 2011;21:62–5.10.1017/S1047951110001563Suche in Google Scholar PubMed
23. Cambiaso P, Orazi C, Digilio MC, Loche S, Capolino R, et al. Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J Pediatr 2007;150:62–5.10.1016/j.jpeds.2006.10.060Suche in Google Scholar PubMed
24. Hill ID, Dirks MH, Liptak GS, Colletti RB, Fasano A, et al. Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2005;40:1–19.10.1097/00005176-200501000-00001Suche in Google Scholar PubMed
©2014 by Walter de Gruyter Berlin Boston
Artikel in diesem Heft
- Masthead
- Masthead
- Editorials
- Editorial
- Consensus, guidelines and reviews
- Review article
- Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
- Images in pediatric endocrinology
- Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
- Original articles
- Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood
- Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study
- Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
- Clinical and laboratory features of temporary brittle bone disease
- Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
- Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
- Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
- Skeletal maturation and predicted adult height in children with premature adrenarche
- Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
- Body composition in young patients with galactose metabolic disorders: a preliminary report
- Detection of vascular risk markers in children and adolescents with type 1 diabetes
- X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
- Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
- Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
- Patient reports
- Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
- A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
- A novel genetic mutation in a Portuguese family with GCK-MODY
- Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
- Hypocalcemia in a paediatric case: from the clinical features to diagnosis
- A rare case of osteogenesis imperfecta combined with complete tooth loss
- Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
- Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
- Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
- Premature thelarche related to fennel tea consumption?
- A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
- Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
- Marine-Lenhart syndrome in a young girl
- Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
- Letter to the Editors
- Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
- Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
- Vitamin D and the heart: what is the truth?
Artikel in diesem Heft
- Masthead
- Masthead
- Editorials
- Editorial
- Consensus, guidelines and reviews
- Review article
- Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
- Images in pediatric endocrinology
- Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
- Original articles
- Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood
- Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study
- Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
- Clinical and laboratory features of temporary brittle bone disease
- Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
- Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
- Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
- Skeletal maturation and predicted adult height in children with premature adrenarche
- Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
- Body composition in young patients with galactose metabolic disorders: a preliminary report
- Detection of vascular risk markers in children and adolescents with type 1 diabetes
- X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
- Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
- Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
- Patient reports
- Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
- A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
- A novel genetic mutation in a Portuguese family with GCK-MODY
- Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
- Hypocalcemia in a paediatric case: from the clinical features to diagnosis
- A rare case of osteogenesis imperfecta combined with complete tooth loss
- Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
- Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
- Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
- Premature thelarche related to fennel tea consumption?
- A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
- Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
- Marine-Lenhart syndrome in a young girl
- Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
- Letter to the Editors
- Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
- Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
- Vitamin D and the heart: what is the truth?
