Growth hormone treatment in a child with Williams-Beuren syndrome: a case report

Kuijpers, G. M. C.; Vroede, M De; Knol, H. E.; Jansen, M.

doi:10.1007/s004310051118

Cited by 13 publications

(7 citation statements)

References 19 publications

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“…Recurrent vomiting as a result of gastroesophageal reflux, colic, and diarrhea is also common (23). GH deficiency has not been considered a major cause of growth retardation in WS, and in the literature, only one patient with confirmed GH deficiency responded well to therapy (24). It is noteworthy that one of our patients (patient 27) responded satisfactorily to hGH therapy.…”

Section: Discussionmentioning

confidence: 69%

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Amenta¹,

Sofocleous²,

Kοlialexi³

et al. 2005

Pediatr Res

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Section: Discussionmentioning

confidence: 69%

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Amenta¹,

Sofocleous²,

Kοlialexi³

et al. 2005

Pediatr Res

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“…Because the median height in Dup7 is at the 50th centile, a child with Dup7 and short stature should have growth hormone studies. There have been rare case reports of growth hormone deficiency in WS [e.g., Kuijpers et al, ; Xekouki et al, ], but growth hormone deficiency was not increased in a series of patients with WS [Partsch et al, ] even though short stature is a common feature.…”

Section: Discussionmentioning

confidence: 99%

7q11.23 Duplication syndrome: Physical characteristics and natural history

Morris

Mervis

Paciorkowski

et al. 2015

American J of Med Genetics Pt A

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In order to describe the physical characteristics, medical complications, and natural history of classic 7q11.23 duplication syndrome [hereafter Dup7 (MIM 609757)], reciprocal duplication of the region deleted in Williams syndrome [hereafter WS (MIM 194050)], we systematically evaluated 53 individuals aged 1.25–21.25 years and 11 affected adult relatives identified in cascade testing. In this series, 27% of probands with Dup7 had an affected parent. Seven of the 26 de novo duplications that were examined for inversions were inverted; in all 7 cases one of the parents had the common inversion polymorphism of the WS region. We documented the craniofacial features of Dup7: brachycephaly, broad forehead, straight eyebrows, broad nasal tip, low insertion of the columella, short philtrum, thin upper lip, minor ear anomalies, and facial asymmetry. Approximately 30% of newborns and 50% of older children and adults had macrocephaly. Abnormalities were noted on neurological examination in 88.7% of children, while 81.6% of MRI studies showed structural abnormalities such as decreased cerebral white matter volume, cerebellar vermis hypoplasia, and ventriculomegaly. Signs of cerebellar dysfunction were found in 62.3%, hypotonia in 58.5%, Developmental Coordination Disorder in 74.2%, and Speech Sound Disorder in 82.6%. Behavior problems included anxiety disorders, ADHD, and oppositional disorders. Medical problems included seizures, 19%; growth hormone deficiency, 9.4%; patent ductus arteriosus, 15%; aortic dilation, 46.2%; chronic constipation, 66%; and structural renal anomalies, 18%. We compare these results to the WS phenotype and offer initial recommendations for medical evaluation and surveillance of individuals who have Dup7.

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“…Nogueira et al (2011) estudaram o crescimento de 17 pacientes brasileiros e concluíram que a baixa estatura é uma característica intrínseca da SWB e pode ser agravada nos primeiros anos de vida pelos problemas de alimentação. Há na literatura um caso de paciente com SWB e deficiência de hormônio do crescimento, com sucesso observado da terapia de substituição desse hormônio (Kuijpers et al, 1999). Partsch et al (1999) observaram que ocorre um estirão puberal prematuro e abreviado em ambos os sexos, o que poderia contribuir para a baixa estatura final observada de 152,4 ± 5,7 cm em mulheres (n = 38…”

Section: Características Clínicasunclassified

“…Em adultos, observa-se prevalência aumentada de hipotireoidismo subclínico, anormalidades nos testes de tolerância à glicose e diabetes mellitus (Pober e Morris, 2007). Como previamente descrito, há na literatura um paciente com deficiência de hormônio do crescimento, tratado com sucesso (Kuijpers et al, 1999). …”

Section: Características Clínicasunclassified

Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren

Honjo¹

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(Versão corrigida. Resolução CoPGr 5890, de 20 de dezembro de 2010.A versão original está disponível na Biblioteca FMUSP) São Paulo 2012À minha família e amigos, que me incentivaram a buscar esta conquista.Ao meu pai, Léo, que partiu antes da concretização deste projeto e que deixou saudades em meu coração.À minha mãe, Rósa, e ao meu irmão, Guilherme, pelo incentivo, carinho e apoio nos momentos difíceis.Ao Henry, pelo carinho, compreensão, suporte e paciência... muita paciência! AgradecimentosAos pacientes e seus familiares, que aceitaram participar desse estudo e me ensinaram muito nesse tempo de convivência, tanto profissional como pessoalmente.À Profa. Dra Chong Ae Kim, pelo carinho, paciência, orientações e suporte ao longo desses anos. Tenho consciência da sorte de tê-la encontrado em minha vida e agradeço por ter me recebido tão calorosamente na Unidade Portanto, o MLPA® constitui-se um método promissor na investigação diagnóstica da SWB. Por ser uma doença multissistêmica, a SWB exige cuidados multidisciplinares e acompanhamento específico a fim de se prevenir complicações.

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Growth hormone treatment in a child with Williams-Beuren syndrome: a case report

Abstract: Although growth hormone deficiency is not likely to be a common cause of short stature in Williams-Beuren syndrome, we nevertheless recommend evaluation of the growth hormone-insulin-like growth factor I axis in all cases.

Cited by 13 publications

References 19 publications

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

7q11.23 Duplication syndrome: Physical characteristics and natural history

Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren

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