Biomaterial Database

[Freeman-Sheldon syndrome. Description of 2 cases of probable recessive autosomal inheritance]. 1987

E Bonioli, and C Bellini, and G Ruffa, and V Lagorio, and G Gemme

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D009958	Orofaciodigital Syndromes	Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.	Gorlin-Psaume Syndrome,Mohr Syndrome,Papillon-Leage and Psaume Syndrome,Dysplasia Linguofacialis,Oral-Facial-Digital Syndrome,Oral-Facial-Digital Syndrome, Type I,Oral-Facial-Digital Syndrome, Type II,Oro-Facio-Digital Syndrome,Orodigitofacial Dysostosis,Orodigitofacial Syndrome,Orofaciodigital Syndrome,Orofaciodigital Syndrome I,Orofaciodigital Syndrome II,Gorlin Psaume Syndrome,Oral Facial Digital Syndrome, Type I,Oral Facial Digital Syndrome, Type II,Orofaciodigital Syndrome IIs,Orofaciodigital Syndrome Is,Papillon Leage and Psaume Syndrome,Syndrome, Gorlin-Psaume,Syndrome, Mohr,Syndrome, Orofaciodigital,Syndromes, Orofaciodigital
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D005149	Facial Expression	Observable changes of expression in the face in response to emotional stimuli.	Face Expression,Expression, Face,Expression, Facial,Face Expressions,Facial Expressions
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities