Cornelia de Lange Syndrome

FitzPatrick, David R.; Kline, Antonie D.

doi:10.1002/9780470893159.ch15

Cited by 3 publications

(3 citation statements)

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“…CdLS is complex condition in which multiple congenital malformations and different medical problems can be present. Typically, CdLS shows a great phenotypic variability; however, it is difficult to define predictive criteria of mildness/severity of both clinical phenotype and ID (Cereda et al, ; Fitzpatrick & Kline, ; Jackson et al, ; Kline, Krantz, et al, 2007). Among the various medical problems, nutritional ones represent a relevant point in medical practice and during daily care of these patients.…”

Section: Discussionmentioning

confidence: 99%

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort

Decimi

Parma

Panceri

et al. 2018

American J of Med Genetics Pt A

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Cornelia de Lange syndrome (CdLS) is a genetic condition characterized by intellectual disability, peculiar facial dysmorphisms, multiorgan malformations, and growth problems. Majority cases of CdLS are caused by mutations in genes of Cohesin pathway. Although feeding problems are a well‐known feature, no specific data have been published about the use of nutritional devices. We analyzed use, type, time of introduction, and duration of nutritional devices in 73 CdLS patients. In total, 29/73 (40%) used a device; nasogastric tube (NGT) in 28/73 (38%) and percutaneous endoscopic gastrostomy (PEG) in 7/73 (10%). NGT was placed during the first days/weeks of life. 19/28 (68%) maintained it for less than 3 months, 7/28 (25%) for a period between 3 and 12 months, while 2/28 (7%) for more than 1 year. PEG was placed within the first year in 4/7 (57%) and removed in two patients after 4 years These data have been matched with a wide number of genetic and clinical variables. Presence of upper limb malformations is positively correlated with the need of a device. From the opposite side, the use of a device positively correlates with a more severe prognosis as regard growth, intellectual development and disease severity. Our data show that nutritional devices are frequently used by CdLS patients, also if the majority of them (93.1%) succeed with time in achieving a normal oral nutrition. Finally, the need, the type of device used and the duration of NGT or/plus PEG can be considered a further sign of worse prognosis of the disease itself.

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Section: Discussionmentioning

confidence: 99%

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort

Decimi

Parma

Panceri

et al. 2018

American J of Med Genetics Pt A

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“…8 The treatment of specific dental problems like erosion, gingival and periodontal disease, caries and jaw-size tooth material discrepancies should be dealt with appropriately. Also, timely referral to the medical speciality including the geneticist, cardiologist, gastroenterologist, endocrinologist, nephrologists, ophthalmologist, ENT specialist, speech therapist and occupational therapist should be met with as required.…”

Section: Discussionmentioning

confidence: 99%

“…The role of the pediatric dentist is to use appropriate skills of behavior management and his expertize in preventive dentistry by adopting the use of fluorides, sealants, stringent oral hygiene practices and providing timely diet counseling. 8 The treatment of specific dental problems like erosion, gingival and periodontal disease, caries and jaw-size tooth material discrepancies should be dealt with appropriately. Also, timely referral to the medical speciality including the geneticist, cardiologist, gastroenterologist, endocrinologist, nephrologists, ophthalmologist, ENT specialist, speech therapist and occupational therapist should be met with as required.…”

Section: Discussionmentioning

confidence: 99%

Cornelia De-Lange Syndrome: A Case Report

Mehta

Bhatia

2013

International Journal of Clinical Pediatric Dentistry

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Cornelia de-Lange syndrome is a congenital anomaly syndrome characterized by distinctive facial dysmorphism, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small widely spaced teeth and microcephaly. IQ ranges from between 30 and 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. It is an autosomal dominant disorder caused by specific gene mutations and occurrence is one in 30,000 to 50,000 children. This article describes a report of a classical case of the syndrome of a 10-year-old boy and emphasizes the oral and systemic findings. The role of the pediatric dentist, with his expertize in prevention, skills of behavior management and timely referral to medical speciality, is of paramount importance in the management of children with this syndrome.How to cite this article: Mehta DN, Bhatia R. Cornelia De-Lange Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(2):115-118.

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