Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian fami...

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Bibliographic Details
Published in:	Journal of medical genetics Vol. 13; no. 5; pp. 394 - 398
Main Authors:	Ventruto, V, Di Girlamo, R, Festa, B, Romano, A, Sebastio, G, Sebastio, L
Format:	Journal Article
Language:	English
Published:	England BMJ Publishing Group Ltd 01-10-1976 BMJ Publishing Group LTD
Subjects:	Abnormalities, Multiple - genetics Animals Bone Diseases, Developmental - genetics Brachydactyly Craniosynostoses - genetics Craniosynostosis Dysostosis Dysplasia Female Fingers - abnormalities Genes, Dominant Hip Italy Joint Diseases - genetics Male Osteochondritis Pedigree Research Article Strabismus Strabismus - genetics Symphalangia Syndrome Toes - abnormalities Italy
Online Access:	Get full text
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Summary:	A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.
Bibliography:	href:jmedgenet-13-394.pdf istex:820BC46F602858E893E4026927C5D2F9C0FA0277 PMID:1003450 local:jmedgenet;13/5/394 ark:/67375/NVC-WCVX9F2Q-X ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.13.5.394