Newly recognized blepharofacioskeletal syndrome

Autor:	Sonia Cristina Silveira Pereira, Antonio Richieri-Costa, M. Michael Cohen, Maria Leine Guion-Almeida, Elaine Sbroggio de Oliveira Rodini
Rok vydání:	1993
Předmět:	Adult medicine.medical_specialty Clinodactyly Tapering fingers media_common.quotation_subject Blepharophimosis Fingers Internal medicine Hypotelorism medicine Humans Abnormalities Multiple skin and connective tissue diseases Child Genetics (clinical) media_common Dysmorphic facies Daughter business.industry Anatomy Syndrome medicine.disease Blepharofacioskeletal Syndrome stomatognathic diseases Endocrinology Phenotype Face Malar hypoplasia sense organs medicine.symptom business
Zdroj:	American journal of medical genetics. 46(6)
ISSN:	0148-7299
Popis:	A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e57abae9b86e68b008cc21eac85ec07c https://pubmed.ncbi.nlm.nih.gov/8362901 Zobrazit plný text záznamu Plný text