Haploinsufficiency of the HOXA Gene Cluster, in a Patient with Hand-Foot-Genital Syndrome, Velopharyngeal Insufficiency, and Persistent Patent Ductus.

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Haploinsufficiency of the HOXA Gene Cluster, in a Patient with Hand-Foot-Genital Syndrome, Velopharyngeal Insufficiency, and Persistent Patent Ductus Botalli Koenraad Devriendt, Jaak Jaeken, Gert Matthijs, Hilde Van Esch, Philippe Debeer, Marc Gewillig, Jean-Pierre Fryns The American Journal of Human Genetics Volume 65, Issue 1, Pages 249-251 (July 1999) DOI: 10.1086/302452 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 X-ray of the patient's left foot, at age 2 years 10 mo. The first toe is laterally deviated, with a triangular distal phalanx and shortened proximal phalanx. There is absence of calcification of the middle phalanges of toes II–V and distal phalanx of toe II. The American Journal of Human Genetics 1999 65, 249-251DOI: (10.1086/302452) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 X-ray of the patient's left hand at age 7.5 years. Note the thumb anomalies: shortened metacarpal, pointed distal phalanx, and pseudoepiphysis of the metacarpal. There is a brachymesophalanx V causing clinodactyly and associated with a pseudoepiphysis. There is shortening of the distal phalanx of finger II. Pseudoepiphyses are present at metacarpal II and V. Bone age was 4.1 years. The American Journal of Human Genetics 1999 65, 249-251DOI: (10.1086/302452) Copyright © 1999 The American Society of Human Genetics Terms and Conditions