Work

Leprechaunism (Donohue's syndrome): a case report

Year: 1993

Type: article

Abstract: Features of leprechaunism, including low-birth weight, a grotesque elfin face with clubbed nose, hirsutism, large low-set ears, enlarge external genitalia, distended abdomen with emaciated extremities, and growth and motor retardation were present in a 3-month-old girl. Because of parental consanguinity in this patient, a recessive mode of inheritance seems likely.

Source: The Turkish Journal of Pediatrics

DOI: 10.24953/turkjpediatr.1993.3702

Authors: Ayşegül Tokatlı, Şinasi Özsoylu, Şencan Özme

Institution: Hacettepe University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7171648866

FWCI:

Cites:

Cited by: 5

Related to: 10