Educational Items Section

Size: px

Start display at page:

Download "Educational Items Section"

Kristina Turner
5 years ago
Views:

1 Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Educational Items Section Embryology, Semiology, Dysmorphology Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F Poitiers, France (JLH) Published in Atlas Database: July 2000 Online updated version : DOI: /2042/37685 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence Atlas of Genetics and Cytogenetics in Oncology and Haematology 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). Fusion of (complete fusion or bridge between) the 2 transverse creases is called single transverse crease, transverse palmar crease, or simian crease. 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. From each palmar triradius a, b, c, d, and t, is drawn the 3 lines separating the ridges at this convergence point. The longest is the main line (-- A B C D & T), ending at a side of the palm numbered from 1 to 14 (see Figure). - T normally ends in transversality index = A+B+C+D = 27 on the Figure. On the fingers may be counted the number of ridges from the center of the pattern to the triradius. (example here: n = 4); in case of an arch, n=0. For the 10 fingers, males have ridges, and female have ridges, according to the formula: n = (30 * no of X) - (12 * no of Y); this may be very useful in the Underground to determine the sex of the person next to you, and to pass the time. METACARPO- OR METATARSO- PHALANGEAL ANOMALIES NUMERICAL ANOMALIES: - Polydactyly: existence of supernumerary fingers. example: palmar and/or plantar hexadactyly trisomy 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. Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) 237

2 As isolated signs, these anomalies are often transmitted as autosomal dominant traits. Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) 238

3 FACE: Semiology and Embryology Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) 239

4 Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) 240

5 HEART: Embryology and Malformations Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) 241

6 Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) 242

7 GENITALIA: Embryology This article should be referenced as such:. Embryology, Semiology, Dysmorphology. Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4): Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) 243

SWGFAST Glossary - Anatomy

SWGFAST Glossary - Anatomy BALL AREA The large cushion area below the base of the big toe. BRACHYDACTYLY Abnormal shortness of fingers or toes. BULB OF FINGERS (THUMBS, TOES) The portion of the friction