Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family [9]

Journal of Medical Genetics

Volumn 38, Issue 4, 2001, Pages 265-269

  Janecke, A R ^a   Unsinn, K ^a   Kreczy, A ^a   Baldissera, I ^a   Gassner, I ^a   Neu, N ^a   Utermann, G ^a   Muller T ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ARACHNODACTYLY; ARTHROGRYPOSIS; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLUBFOOT; CONSANGUINEOUS MARRIAGE; FACE DYSMORPHIA; HUMAN; LETTER; MALE; NEWBORN; PLEIOTROPY; PRESCHOOL CHILD; PRIORITY JOURNAL; THUMB CLUBFOOT SYNDROME;

ABNORMALITIES, MULTIPLE; AUSTRIA; CONSANGUINITY; FAMILY HEALTH; FATAL OUTCOME; FOOT DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; SYNDROME; THUMB;

EID: 0035058230     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (8)

1. An autosomal recessive adducted thumb-clubfoot syndrome observed in Turkish cousins
2. Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: A new type of distal arthrogryposis?
3. The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate
4. Adducted thumb syndrome. Report of a new case and a diagnostic approach
5. Familial distal arthrogryposis with craniofacial abnormalities: A new subtype of type II?
6. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts