Biomaterial Database

Postaxial acrofacial dysostosis: report of a Brazilian patient. 1989

A Richieri-Costa, and M L Guion-Almeida

Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.

We report on a Brazilian child with postaxial acrofacial dysostosis (AFD)-type Genée-Wiedemann. Clinical and genetic aspects of the postaxial acrofacial dysostoses are discussed.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008342	Mandibulofacial Dysostosis	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)	MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D005532	Foot Deformities, Congenital	Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.	Congenital Foot Deformities,Congenital Foot Deformity,Deformities, Congenital Foot,Deformity, Congenital Foot,Foot Deformity, Congenital
D006228	Hand Deformities, Congenital	Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.	Congenital Hand Deformities,Congenital Hand Deformity,Deformities, Congenital Hand,Deformity, Congenital Hand,Hand Deformity, Congenital
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
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes