[Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela].
Werner in 1915, described a patient is characterized by a tibial bilateral aplasia or hypoplasia, polydactyly and absent thumbs. Autosomal dominant inheritance is demonstrated, with variable expressivity. The objective of this work is to describe a child with clinic and radiologic signs of Tibial Hypoplasia with Polydactyly. The genealogic study allowed us to suppose that the gene has a variable expressivity, since in the maternal branch, malformations such as syndactyly of hands, proximal implantation of thumbs and tibiae vara, have been found. The clinic, radiologic, and genetic aspects are discussed.
Martínez-Basalo
C
C
Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.
González-Inciarte
M E
ME
Delgado-Luengo
W
W
Casilla-Nava
S
S
González-Incíarte
L
L
Alvarez-Nava
F
F
Boscán-Porras
N
N
Delgado-Luengo
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006618:Hip Dislocation, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics*; D011707:Pyloric Stenosis / Q000151:congenital; D013576:Syndactyly / Q000235:genetics; D013933:Thumb / Q000002:abnormalities*; D013977:Tibia / Q000002:abnormalities*; D014687:Venezuela
Hipoplasia de tibia, polidactilia y pulgar trifalángico: primera familia descrita en Venezuela.