Congenital vertical talus in four generations of the same family.
OBJECTIVE
This paper presents four generations of a family with radiographically demonstrated congenital vertical talus (CVT) in whom a HOXD10 gene mutation was identified. Some members of the family with this mutation exhibited cavo-varus foot deformity consistent with a Charcot-Marie-Tooth (CMT)-like disorder.


METHODS
Physical examination was performed on nearly all of the affected and unaffected family members. DNA was extracted from blood obtained from 14 subjects who showed radiographic and clinical features of CVT (two of whom also had CMT), from two subjects with features of CMT but not CVT, and from 20 related family members who were clinically normal.


RESULTS
Radiographs show the appearance of uncorrected CVT in infancy, in childhood, and in adulthood. DNA analysis revealed a mutation in a HOXD10 gene located on chromosome 2 in all of the affected but none of the unaffected family members.


CONCLUSIONS
There is an autosomal-dominant-inherited mutation with complete penetrance which is found in all members of a pedigree with CVT, some of whom exhibit a CMT-like foot disorder. Radiologic findings vary depending on the severity of involvement, treatment provided and age of the patient.
Levinsohn
E Mark
EM
Department of Medical Imaging, Crouse Hospital, 736 Irving Ave., Syracuse, NY 13210, USA. eml@twcny.rr.com
Shrimpton
Antony E
AE
Cady
Robert B
RB
Packard
David S
DS
Hootnick
David R
DR
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002607:Charcot-Marie-Tooth Disease / Q000000981:diagnostic imaging / Q000235:genetics; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015641:Radiography, Interventional; D013628:Talus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; D014157:Transcription Factors; C072064:HOXD10 protein, human