Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature

Autor:	Moshe Frydman, Hanna Savir, Herman A. Cohen, G. Karmon
Rok vydání:	1992
Předmět:	Adult Male medicine.medical_specialty Adolescent Vision Disorders Genes Recessive Blepharophimosis Toe syndactyly Short stature Ptosis Internal medicine Genetics medicine Prognathism Humans Syndactyly Genetics (clinical) Growth Disorders Neurologic Examination Esotropia business.industry Infant Syndrome medicine.disease Dermatology Pedigree Endocrinology medicine.anatomical_structure Female Eyelid medicine.symptom business
Zdroj:	Clinical genetics. 41(2)
ISSN:	0009-9163
Popis:	A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline head circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94280975486b6b24a6094fdd54c09c88 https://pubmed.ncbi.nlm.nih.gov/1311991 Zobrazit plný text záznamu Plný text