Coffin‐Lowry syndrome: a multicenter study

Gilgenkrantz, Simone; Mujica, Paula; Gruet, P.; Tridon, P; Schweitzer, F. A. W.; Nivelon-Chevallier, A; Nivelon, J L; Couillault, G.; David, Albert; Verloes, Alain; Lambotte, C; Piussan, C; Mathieu, M

doi:10.1111/j.1399-0004.1988.tb02870.x

Cited by 39 publications

(7 citation statements)

References 11 publications

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“…While cardiac anomalies are common in CLS, occurring in approximately 14% of cases [Hunter, 2002], cardiomyopathy is rare, with only a few reported cases [Gilgenkrantz et al, 1988; Massin et al, 1999]. These were uncharacterized, without the advanced studies detailed in this case.…”

Section: Discussionmentioning

confidence: 85%

“…Cardiac anomalies have been described in approximately 14% of males with CLS and include anomalies of the mitral, aortic and tricuspid valves, and pulmonary and aortic root dilatation [Hunter, 2002]. Cardiomyopathy was described in a few cases, but with no consistent sub‐type (cases with obstructive, dilated, and with endomyocardial fibroelastosis have all been reported, [Gilgenkrantz et al, 1988; Massin et al, 1999]).…”

Section: Introductionmentioning

confidence: 99%

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Mechanical reinforcement of poly(1‐butene) using polypropylene‐grafted multiwalled carbon nanotubes

Yang

Shi

et al. 2009

J of Applied Polymer Sci

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The mechanical properties of poly(1-butene) reinforced by pristine multiwalled carbon nanotubes (MWNTs) and polypropylene-grafted MWNTs (PPg-MWNTs) were evaluated. The incorporation of pristine MWNTs to PB led to an improvement in stiffness, but not in strength, ductility, and toughness. In comparison, PP-gMWNTs were able to improve the stiffness, strength, and toughness of PB significantly, without compromising the ductility. The mechanical properties of PB improved with increasing amount of PP-g-MWNTs up to an effective MWNT content of 1.5 wt%. Further increase in the effective MWNT content led to a downturn in mechanical properties due to the existence of MWNTs bundles as observed by microscopy.

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Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

Mechanical reinforcement of poly(1‐butene) using polypropylene‐grafted multiwalled carbon nanotubes

Yang

Shi

et al. 2009

J of Applied Polymer Sci

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“…Peg shaped or absent upper lateral incisors are also common (Pereira et al, 2010 ). Large divergent central incisors, with a wide upper interincisal diastema are also observed in CLS (Gilgenkrantz et al, 1988 ; Lopez-Jimenez and Gimenez-Prats, 2003 ), as also is a lingual midline fissure (Gilgenkrantz et al, 1988 ). As alveolar bone loss and premature tooth exfoliation were also consistently reported symptoms in patients with CLS, a Rsk2-deficient mouse model was generated, and the results showed that besides the requirement for alveolar bone formation, Rsk2 is also a critical regulator of cementoblast function.…”

Section: Resultsmentioning

confidence: 99%

“…Malocclusions, including frontal open bites (unpublished observations 2014, by author C.C. ), and a high narrow palate are often present (Gilgenkrantz et al, 1988 ).…”

Section: Resultsmentioning

confidence: 99%

Update on 13 Syndromes Affecting Craniofacial and Dental Structures

Bartzela¹,

Carels²,

Maltha³

2017

Front. Physiol.

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Care of individuals with syndromes affecting craniofacial and dental structures are mostly treated by an interdisciplinary team from early childhood on. In addition to medical and dental specialists that have a vivid interest in these syndromes and for whom these syndromes are of evident interest, experts of scientific background—like molecular and developmental geneticists, but also computational biologists and bioinformaticians—, become more frequently involved in the refined diagnostic and etiological processes of these patients. Early diagnosis is often crucial for the effective treatment of functional and developmental aspects. However, not all syndromes can be clinically identified early, especially in cases of absence of known family history. Moreover, the treatment of these patients is often complicated because of insufficient medical knowledge, and because of the dental and craniofacial developmental variations. The role of the team is crucial for the prevention, proper function, and craniofacial development which is often combined with orthognathic surgery. Although the existing literature does not provide considerable insight into this topic, this descriptive review aims to provide tools for the interdisciplinary team by giving an update on the genetics and general features, and the oral and craniofacial manifestations for early diagnosis. Clinical phenotyping together with genetic data and pathway information will ultimately pave the way for preventive strategies and therapeutic options in the future. This will improve the prognosis for better functional and aesthetic outcome for these patients and lead to a better quality of life, not only for the patients themselves but also for their families. The aim of this review is to promote interdisciplinary interaction and mutual understanding among all specialists involved in the diagnosis and therapeutic guidance of patients with these syndromal conditions in order to provide optimal personalized care in an integrated approach.

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“…However, the vast majority of patients are severely affected, with IQ scores ranging from 8,9 Other uncommonly associated manifestations include epileptic seizures that affect approximately 5% of individuals 9 and sensorineural hearing loss (approximately 30% of male patients in the series of patients analyzed in our laboratory), which can be profound. Stimulus-induced drop episodes, with onset typically from mid-childhood to the teens, is present in approximately 20% of affected individuals; 10 unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness.…”

Section: Clinical Overviewmentioning

confidence: 99%