Embryology - Semiology - Dysmorphology
Contributor(s)
| Written | 2000-07 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
Hands
The palm is characterized by:
- flexion creases: generated by mouvements of the skin in relation to joints motility.
- dermatoglyphics: dermal ridges on fingers, on the palm, and on the planta.
Creases:
- fingers: 2 flexion creases for each finger (except the thumb: only 1 crease).
- finger-palm creases.
- palm : 3 normal creases:
- longitudinal radial crease (LRC in the Figure).
- proximal transverse crease (PTC).
- distal transverse crease (DTC).
Dermatoglyphics:
Triradius: point of convergence of ridges from 3 different directions. Normally, there is:
- 1 axial triradius: normally in t, close to the wrist.
- 4 subdigital triradii (a.b.c.d.).
- On the pad of the distal phalanx, sometimes on thenar or hypothenar eminences, are triradii, accompanied with the following patterns:
- worl: 2 triradii.
- loops and equivalents (ulnar or radial orientated): 1 triradius.
- arches: 0 triradius.
- T normally ends in 13.
- transversality index = A+B+C+D = 27 on the Figure.
Metacarpo-or metatarso-phalangeal anomalies
Numerical anomalies
- Polydactyly: existence of supernumerary fingers. example: palmar and/or plantar hexadactyly trisomy 13.
- Syndactyly: union of 2 or more fingers or toes (more or less complete, only involving the skin or with bone fusion).
Size anomalies
- Brachydactyly: short fingers. Various types according to which phalanx is involved (e.g. brachymesophalangy: short medial phalanx).
- Brachymetacarpy: short metacarp(s) (example: in Turner syndrome).
Shape anomalies
- Clinodactyly: bend of fingers (often the 5th, as in trisomy 21).
- Camptodactyly: irreductible flexion of the 2nd phalanx on the 1st (without bone involvment).
- Arachnodactyly: long and slender fingers.
As isolated signs, these anomalies are often transmitted as autosomal dominant traits.
Citation
Huret JL
Atlas of Genetics and Cytogenetics in Oncology and Haematology 2000-07-01
Embryology - Semiology - Dysmorphology
Online version: http://atlasgeneticsoncology.org/teaching/30082/embryology-semiology-dysmorphology
