Work

Spectrum of anomalies in Fanconi anaemia.

Year: 1982

Type: article

Abstract: The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As probands are usually ascertained because of a 'characteristic' array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate. The frequencies of growth retardation, skin hyperpigmentation, radial ray deformities, radial ray reduction deformities, hypogenitalia, and supernumerary thumbs were significantly lower in the affected sibs of probands than in probands. Since 25% of the affected sibs had no dysmorphic features, absence of dysmorphism is not sufficient to rule out the diagnosis.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.19.6.412

Authors: A Glanz, F C Fraser

Institutions: Montreal Children's Hospital, McGill University

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2002689272