Heterogeneous Diagnoses Underlying Radial Ray Anomalies

Sevilla‐Montoya, Rosalba; Aguinaga, Mónica; Martínez, Alejandro; Razo, Guadalupe; Molina, Bertha; Frı́as, Sara; Grether, Patricia

doi:10.1007/s12098-016-2270-4

Cited by 3 publications

(3 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…El diagnóstico de anemia de Fanconi puede pensarse desde una consulta prenatal, si el feto tiene restricción del crecimiento intrauterino acompañado de malformaciones del eje radial. 5,33 Al nacimiento, se debe considerar la anemia de Fanconi en todo paciente con anormalidades del tipo VACTERL-H, sobre todo si hay alteraciones radiales y renales. 12,15 Durante la etapa preescolar y escolar, la talla baja, microcefalia y/o alteraciones pigmentarias de la piel deben sugerir anemia de Fanconi.…”

Section: Sospecha De Anemia De Fanconi Antes De Las Alteraciones Hema...unclassified

“…Prenatally, FA can be considered if the fetal assessment shows intrauterine growth restriction accompanied by radial ray malformations. 5,33 At birth, FA should be ruled out in all patients with VACTERL-H features, especially if radial ray and renal alterations coexist. 12,15 During the preschool and school stages, short stature, microcephaly, and/or pigmentary skin changes may suggest FA.…”

Section: Identifying Fanconi Anemia Before the Onset Of Hematological...mentioning

confidence: 99%

See 1 more Smart Citation

La Dismorfología como Herramienta para un Diagnóstico Temprano de la Anemia de Fanconi; Dysmorphology as a Tool for Earlier Diagnosis of Fanconi Anemia

et al. 2022

View full text Add to dashboard Cite

La anemia de Fanconi es un síndrome de inestabilidad cromosómica que cursa con falla medular, alteraciones dismorfológicas y predisposición a cáncer. Las manifestaciones de esta enfermedad incluyen anomalías del desarrollo que son parte de los acrónimos VACTERL-H y PHENOS. Estas alteraciones pueden detectarse a edades tempranas, incluso antes del inicio de las manifestaciones hemato-oncológicas. Aquí describimos cómo la búsqueda y evaluación de estas manifestaciones puede conducir a un diagnóstico temprano de la anemia de Fanconi. Fanconi anemia is a chromosome instability syndrome associated with bone marrow failure, physical abnormalities, and cancer predisposition. The Fanconi anemia phenotype includes several morphological anomalies that are part of the VACTERL-H and PHENOS acronyms. These physical alterations can be detected at an early age, even before the onset of hemato-oncological manifestations. Here we describe how to look for and evaluate these manifestations, leading to an early diagnosis of Fanconi anemia.

show abstract

Section: Sospecha De Anemia De Fanconi Antes De Las Alteraciones Hema...unclassified

Section: Identifying Fanconi Anemia Before the Onset Of Hematological...mentioning

confidence: 99%

La Dismorfología como Herramienta para un Diagnóstico Temprano de la Anemia de Fanconi; Dysmorphology as a Tool for Earlier Diagnosis of Fanconi Anemia

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Dentre as alterações longitudinais, as deficiências pré-axiais (eixo radial) são as mais comuns dentre as DCM, com uma prevalência estimada em 1 em 10.000 nascimentos. O acometimento do eixo radial tem um grau variável de apresentação, abrangendo desde uma hipoplasia e/ou agenesia do polegar até a hipoplasia/agenesia do osso longo do eixo, o rádio (Elmakky et al, 2015;Sevilla-Montoya et al, 2017 Uma síndrome é definida por um padrão de anomalias, com pelo menos uma destas alterações morfológicas, comprovadamente ou supostamente determinadas por uma etiologia comum. Ao passo que uma associação é definida pela presença de um padrão de anomalias, com pelo menos duas delas morfológicas, ocorrendo com uma frequência maior do que a esperada ao acaso e sem uma causa identificada (Hennekam et al, 2013).…”

Section: Classificações Das Dcmunclassified

Estudo genômico de indivíduos com deficiência congênita de membros

Rocha¹

View full text Add to dashboard Cite

The diagnostic utility of exome‐based carrier screening in families with a positive family history

Kotecha¹,

Mistri²,

Rayabarapu³

et al. 2022

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Identification of disease-causing variants in families with a history of a suspected recessive disorder is essential for appropriate counseling and reproductive decision making. The present case series depicts the utility of whole exome-based phenotypes-driven carrier analysis in 14 families with a positive family history. A phenotype-based analysis revealed a putative diagnostic yield of 71.4%. Proband sample, though insufficient, was available in only one family, which allowed the diagnosis to be confirmed. In the remaining nine families, despite the detection of heterozygous pathogenic/likely pathogenic variants, only a putative diagnosis was possible due to incomplete proband phenotyping as well as nonavailability of proband samples. We describe the youngest known patient homozygous for a likely pathogenic variant in PPP1R21. He is currently asymptomatic at 7 days of life and has a simplified gyral pattern on neuroimaging. The case series, though small, captures the challenges in the diagnosis of genetic disorders in low to middle income countries with in-equitable health care access. It reinforces the significance of detailed phenotyping in the proband as well as the importance of DNA storage for a conclusive diagnosis.A recurring post-test counseling challenge was risk ascertainment and reproductive decision making in subsequent pregnancies if the detected pathogenic/likely pathogenic variants are co-inherited, in families with a putative diagnosis. When opted for, prenatal testing in such a scenario would be limited in its ability to comment on the fetal status with respect to the disorder in the proband.

show abstract

Heterogeneous Diagnoses Underlying Radial Ray Anomalies

Abstract: The assessment of these patients needs to involve the combined use of ultrasound, clinical, genetic, cytogenetic and molecular testing. The present results indicate that the chromosome breakage test should always be performed to rule out Fanconi anemia in this group.

Cited by 3 publications

References 17 publications

La Dismorfología como Herramienta para un Diagnóstico Temprano de la Anemia de Fanconi; Dysmorphology as a Tool for Earlier Diagnosis of Fanconi Anemia

La Dismorfología como Herramienta para un Diagnóstico Temprano de la Anemia de Fanconi; Dysmorphology as a Tool for Earlier Diagnosis of Fanconi Anemia

Estudo genômico de indivíduos com deficiência congênita de membros

The diagnostic utility of exome‐based carrier screening in families with a positive family history

Contact Info

Product

Resources

About