Ellis-van Creveld Syndrome

“…Less commonly reported malformations include anomalous pulmonary venous return, persistent left superior vena cava and stenosis of the aortic and pulmonary valves [11,13,14]. Presence of a cardiac defect influences the prognosis, and it may contribute to early death as in Patient 2.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Radiological Features of Chondroectodermal Dysplasia

1991

View full text Add to dashboard Cite

“…The database search and reference scoring showed 293 papers of which 83 papers were relevant. In 50 papers at least one height was mentioned of in a total of 94 patients [Ellis and van Creveld, 1940; Weller, 1951; Weiss and Crosett, 1955; Smith and Hand, 1958; Douglas et al, 1959; Ellis and Andrew, 1961; Husson and Parkman, 1961; McKusick et al, 1964; Feingold, 1966; Reddy and Madenlioglu, 1967; Winter and Geddes, 1967; Lynch et al, 1968; Donlan et al, 1969; Kotte and Kotte, 1969; Blackburn and Belliveau, 1971; Bützler et al, 1973; Neimann et al, 1973; Franz et al, 1974; Renier et al, 1975; Hill, 1977; Bohm et al, 1978; Prabhu et al, 1978; Christian et al, 1980; da Silva et al, 1980; Sarnat et al, 1980; Rosemberg et al, 1983; Bui et al, 1984; Gauri et al, 1987; Puliyel et al, 1987; Cacciari et al, 1988; Erzen et al, 1988; Himelhoch and Mostofi, 1988; Pirazzoli et al, 1989; Brueton et al, 1990; Pinelli et al, 1990; Ghosh et al, 1992; Goldblatt et al, 1992; Maitra et al, 1992; Fryns and Moerman, 1993; Digilio et al, 1995; Spranger and Tariverdian, 1995; Gripp et al, 1996; Yapar et al, 1996; Susami et al, 1999; Atasu and Biren, 2000; Datta and Chaturvedi, 2000; George et al, 2000; Al‐Khenaizan et al, 2001; Arya et al, 2001; Katsouras et al, 2003]. The remaining 33 papers only mentioned weight or head circumference.…”

Section: Literature Reviewmentioning

confidence: 99%

Growth hormone analysis and treatment in Ellis–van Creveld syndrome

Versteegh

Buma

Costin³

et al. 2007

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Little is known on growth, growth hormone (GH) levels and GH treatment in patients with Ellis-van Creveld syndrome (EvC). The aim of the present study was to assess growth, growth hormone status and the possible effectiveness of GH treatment in literature and in a small series of EvC patients. A review of literature indicated retarded growth for most EvC patients (-2 to -4.5 SDS) and minimal data on GH levels or treatment which did not allow any conclusion. We studied eight EvC patients, seven of whom were treated with GH. Four were GH deficient (GHD) and four were GH sufficient. In all patients treated with GH, first year growth velocity increased. In three of the four GHD and in one GH-sufficient patient a gain in height SDS was noted. In the present small EvC series GHD occurred more often than expected. Patient acquisition through the Growth Hormone Database will have caused a significant bias, but the present results indicate that GH treatment may improve growth in at least some patients with EvC. Therefore we conclude that EvC patients may benefit from being tested for GHD and, if indicated, treated. In addition a prospective study to evaluate GH status and linear growth in patients with EvC as well as the potential effectiveness of GH treatment is warranted.

show abstract

“…A erupção de dentes natais e neonatais, em geral, ocorre em crianças normais, com ou sem histórico familiar (12,18) . Existem evidências de contribuição genética de algumas síndromes e anomalias de desenvolvimento associadas à presença de dentes natais e neonatais (5) -dentre elas, citam-se a displasia ectodérmica (26) , a síndrome de Pierre Robin (9) , os lábios fissurados (9,16) , a síndrome de Hallerman-Streiff (17,27) , a de Ellis-van Creveld (17,26) , a disostose craniofacial (21) , a paquioniquia congênita (21) e a síndrome de Soto (23) .…”

Section: Etiologiaunclassified

A importância da interação entre odontopediatrias e pediatrias no manejo de dentes natais e neonatais

Diniz

Gondim

Pansani³

et al. 2008

Rev. paul. pediatr.

View full text Add to dashboard Cite

RESUMOObjetivo: Apresentar revisão de literatura sobre dentes natais e neonatais, abordando características clínicas, fatores etiológicos, medidas terapêuticas e a importância do conhecimento desta anomalia, por odontopediatras e pediatras. Fontes de dados:Foram selecionados os artigos mais relevantes sobre o tema, desde 1950 até 2006, pesquisados no Medline e na Bibliografia Brasileira em Odontologia (BBO), além de livros de pertinentes.Síntese dos dados: Os dentes natais e neonatais consistem em uma anomalia de erupção, sendo caracterizados por seu irrompimento na cavidade oral durante o período intra-uterino ou no primeiro mês de vida respectivamente, podendo fazer parte da dentição decídua normal ou supranumerária. Esses dentes, em geral, apresentam bordos cortantes e podem estar relacionados ao aparecimento de ulcerações na base da língua do bebê e/ou no seio materno, comprometendo a amamentação. A fraca implantação óssea desses dentes favorece sua grande mobilidade, tornando-se, assim, um fator de risco à sua aspiração ou deglutição pela criança. A abordagem terapêutica depende da dentição à qual pertence o dente e dos possíveis problemas que este pode causar à saúde da criança ou da mãe.Conclusões: O conhecimento sobre as características clínicas e os possíveis distúrbios aos quais os dentes natais e neonatais estão relacionados por odontopediatras e pediatras possibilita a interação necessária para o diagnóstico precoce e a abordagem integral da criança.Palavras-chave: dente decíduo; dentes natais; Odontopediatria; Pediatria. AbStRActObjective: To review available data about natal and neonatal teeth, emphasizing clinical characteristics, etiological factors, treatment, and the importance of the knowledge about this anomaly by pediatric dentists and pediatricians.Data sources: The most relevant articles published on the subject were selected, from 1950 to 2006, browsed on Medline, Brazilian Bibliografy of Odontology (BBO) and Dentistry books.Data synthesis: Natal and neonatal teeth are considered eruption anomalies, characterized by eruption into oral cavity during the intrauterine period or during the first month after birth, respectively, being part of the regular deciduous or the supernumerary dentitions. As these teeth usually present cutting edges, they can be related to traumatic injury to newborn's tongue and/or to mother's nipples, compromising breastfeeding. In general, the weak attachment of these teeth to alveolar bone favors a high degree of mobility, which exposes the infant to the risk of aspiration or swallowing them. The management depends on which dentition these teeth belong and/or on complications that may affect either infant's or mother's health.Conclusions: The knowledge about the clinical characteristics and the possible complications related to natal and neonatal teeth by pediatric dentists and pediatricians provides the necessary interaction to early diagnosis and infant general management. Key

show abstract

Ellis-van Creveld Syndrome

Cited by 16 publications

References 0 publications

Clinical and Radiological Features of Chondroectodermal Dysplasia

Clinical and Radiological Features of Chondroectodermal Dysplasia

Growth hormone analysis and treatment in Ellis–van Creveld syndrome

A importância da interação entre odontopediatrias e pediatrias no manejo de dentes natais e neonatais

Contact Info

Product

Resources

About