Síndrome de Cornelia de Lange y su relación con la erupción dentaria. Análisis caso clínico.

El Síndrome de Cornelia de Lange (SCDL), es una anomalía genética cuya prevalencia es de 1:62.000-1:45.000 de los nacimientos. Se atribuye principalmente a mutaciones en los genes NIPBL, SMC3 y SMC1A. Se caracteriza por presentar alteraciones físicas generales, alteración cognitiva y del lenguaje; y rasgos orofaciales como la sinofridia, hirsutismo, también existe maloclusión, retardo de la erupción, apiñamiento, anodoncia, malformación de las extremidades, retraso del desarrollo pre y postnatal y otras malformaciones congénitas. Objetivo: Analizar el caso de paciente con síndrome de Cornelia de Lange y su relación con algunos hallazgos reportados en la literatura especialmente la erupción dentaria. Se presenta paciente lactante femenina de 2 años y 5 meses, procedente de Valencia, con diagnóstico genético de Síndrome de Cornelia de Lange, plumbemia, y litiasis biliar, que acude a la consulta del Postgrado de Odontopediatría de la Universidad de Carabobo por presentar retardo en la erupción dentaria. Se realiza historia clínica, examen clínico general donde se observa retraso psicomotor, del lenguaje y características fenotípicas propias del síndrome. A la evaluación clínica intrabucal se observa rebordes gingivales con inserción normal de frenillos y ausencia de unidades dentarias (retardo de erupción). La erupción dentaria puede verse afectada en pacientes con diagnóstico de Síndrome de Cornelia de Lange, tanto en su cronología como en la secuencia de erupción.

Dermatological manifestations of the Cornelia de Lange syndrome

Archives of Dermatology ◽

10.1001/archderm.94.1.38 ◽

1966 ◽

Vol 94 (1) ◽

pp. 38-43 ◽

Cited By ~ 4

Author(s):

F. N. Salazar

Keyword(s):

Faculty Opinions recommendation of Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1027601.334640 ◽

2005 ◽

Author(s):

Conly Rieder

Keyword(s):

Sister Chromatid ◽

Sister Chromatid Separation ◽

i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome

BMJ Case Reports ◽

10.1136/bcr-2014-209124 ◽

2015 ◽

Vol 2015 (mar24 2) ◽

pp. bcr2014209124-bcr2014209124 ◽

Cited By ~ 3

Author(s):

A. Galderisi ◽

G. De Bernardo ◽

E. Lorenzon ◽

D. Trevisanuto

Keyword(s):

Low Birthweight ◽

Very Low Birthweight ◽

Cornelia De Lange ◽

Very Low Birthweight Infant

A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics ◽

10.3390/diagnostics11010142 ◽

2021 ◽

Vol 11 (1) ◽

pp. 142

Author(s):

Anca Maria Panaitescu ◽

Simona Duta ◽

Nicolae Gica ◽

Radu Botezatu ◽

Florina Nedelea ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Facial Features ◽

Genetic Condition ◽

Case Presentation ◽

Pathogenic Variants ◽

Limb Reduction ◽

Ultrasound Findings ◽

Prenatal Management ◽

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome

Applied Sciences ◽

10.3390/app11020710 ◽

2021 ◽

Vol 11 (2) ◽

pp. 710

Author(s):

Ángel Matute-Llorente ◽

Ángela Ascaso ◽

Ana Latorre-Pellicer ◽

Beatriz Puisac ◽

Laura Trujillano ◽

...

Keyword(s):

Body Composition ◽

Lean Mass ◽

Bone Health ◽

Areal Bone Mineral Density ◽

Childhood And Adolescence ◽

Mineral Density ◽

Calcium Phosphorus ◽

Cornelia De Lange ◽

Targeted Gene Sequencing

The aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5–38 years) were assessed. Total body less head (TBLH) and lumbar spine (LS) scans were performed, and bone serum biomarkers were determined. Molecular analyses were carried out and clinical scores and skeletal features were assessed. Based on deep sequencing of a custom target gene panel, it was discovered that eight of the nine CdLS patients had potentially causative genetic variants in NIPBL. Fat and lean mass indices (FMI and LMI) were 3.4–11.1 and 8.4–17.0 kg/m2, respectively. For TBLH areal bone mineral density (aBMD), after adjusting for height for age Z-score of children and adolescents, two individuals (an adolescent and an adult) had low BMD (aBMD Z-scores less than –2.0 SD). Calcium, phosphorus, 25-OH-vitamin D, parathyroid hormone, and alkaline phosphatase levels were 2.08–2.49 nmol/L, 2.10–3.75 nmol/L, 39.94–78.37 nmol/L, 23.4–80.3 pg/mL, and 43–203 IU/L, respectively. Individuals with CdLS might have normal adiposity and low levels of lean mass measured with DXA. Bone health in this population seems to be less of a concern during childhood and adolescence. However, they might be at risk for impaired bone health due to low aBMD in adulthood.