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Thumb aplasia

Known as: Absent thumb, Absent thumbs, Aplasia of the thumb 
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. [HPO:probinson, pmid:19125433]
National Institutes of Health

Related topics

Related topics

4 relations
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)FANCONI ANEMIA, COMPLEMENTATION GROUP D2FANCONI ANEMIA, COMPLEMENTATION GROUP EFANCONI ANEMIA, COMPLEMENTATION GROUP O

Papers overview

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2015
2015
Radial Ray Defect
A 24 days old male neonate presented to the University of Gondar Hospital with deformity at the right wrist joint since birth… 
2005
2005
Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease
A child with Werner's mesomelic dysplasia is presented. She has five fingers on each hand with absent thumbs and seven toes on… 
1994
1994
Sensorineural hearing loss and nail patella syndrome.
  • S. HussainG. Hope
  • Archives of Otolaryngology - Head and Neck…
  • 1994
  • Corpus ID: 8794300
Nail patella syndrome, also known as hereditary osteo-onychodysplasia, is an autosomal dominant disorder characterized by… 
1987
1987
Ocular abnormalities accompanying chromosome 13 defects.
To the Editor. —The case report by Weiss and Margo 1 nicely documents bilateral microphthalmos with cyst associated with 13q… 
1985
1985
The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.
A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis… 
1985
1985
[An 8-finger hand with ulnar duplication (mirror image deformity)].
The authors present a congenital arm- and hand deformity in a four year old boy. This "mirror deformity" includes aplasia of the… 
1983
1983
Familial t(4;13) with abnormal offspring in three generations.
A newborn infant girl died at 1 day and was found to have severe intrauterine growth retardation, microcephaly, cleft lip and… 
1978
1978
Multiple skeletal anomalies in the “13q-” syndrome
A patient with the “13q-” syndrome is reported. The typical association of congenital malformations was found. Multiple and… 
Highly Cited
1977
Highly Cited
1977
Thumb reconstruction by digital transposition.
In traumatic loss or congenital aplasia of the thumb, transposition of a digit on its neurovascular pedicle is the preferable… 
1974
1974
Phocomelia, flexion deformities and absent thumbs: a new hereditary upper limb malformation.
Absence or hypoplasia of the radii and thumbs usually occurs as an isolated and presumably nonhereditary malformation.1,2 Among…