TY  - JOUR
T1  - SYmphalangism and fourth digit hypophalangism
AU  - COMINGS DE
Y1  - 1965/05/01
N1  - 10.1001/archinte.1960.03860170062014
JO  - Archives of Internal Medicine
SP  - 580
EP  - 583
VL  - 115
IS  - 5
N2  - THE obvious nature of brachydactyly accounts for its interesting contribution to the history of medical genetics. It was the first anomaly in man reported to show dominant mendelian inheritance.1,2 One of the few cases of an apparently homozygous autosomal dominant anomaly was reported in a family with mild brachydactyly in which intermarriage produced a child without fingers or toes who died at the age of one year.3 Symphalangism (congenital fusion of the phalanges) is occasionally associated with brachydactyly. It, too, contributes to the history of human genetics. A family with symphalangism traced back 14 generations to the Earl of Shrewsbury (1453) of Shakespeare's Henry VI represents one of the longest vertical histories of a human anomaly.4Brachydactyly may be due to one of three anomalies:Brachyphalangy (short phalanges),Hypophalangy (absence of phalanges), orBrachymetacarpy (short metacarpals).It is transmitted as an autosomal dominant anomaly. The following is a report of a family
SN  - 0003-9926
M3  - doi: 10.1001/archinte.1960.03860170062014
UR  - http://dx.doi.org/10.1001/archinte.1960.03860170062014
ER  -