Normal and five-fingered hand: comparative X-ray morphometry in the post-natal age
Abstract
Background: Five-fingered hand (5-FH) with completely developed phalanges is a rare phenotype observed so far only in humans and characterised by three phalanges of the 1st ray. A long-lasting, debated question is if the missing element of the normal hand 1st ray is the metacarpal or the phalanx. In this study, comparative X-rays morphometry of long bones in normal and 5-FH is carried out with the aim to face this question through homology analysis of long bone segments in the transverse and longitudinal line of normal hand and 5-FH. Materials and methods: In the normal hand X-rays (n =20) and in a 5-FH X-rays series (n = 9) the relative length of each segment on the ray total length and the index of growth rate (IGR) were assessed. The calculation of the first parameter in normal hand bi-phalangeal thumb was carried out on the 3rd ray total length in the same hand. Results: The parameters of relative length and the proximal/distal growth rate asymmetry in the post-natal period (assessed through the IGR) confirmed in 5-FH the homology of all the five segment on the transverse line. In the normal control hand, the relative length assessment methodology was biased by the missing segment of the thumb, therefore, the reference to the 3rd ray total length in the same hand (instead of the 1st), allowed the homology analysis of the thumb metacarpal and 1st phalanx with the lateral segments (2nd–5th ray) of the same hand. The 5-FH analysis was used to choose the more appropriate reference ray for the normal hand group. Conclusions: The comparative analysis of relative lengths and IGRs in the two groups suggested homology of the (anatomical) 1st metacarpal with the 2nd–5th proximal phalanges in the same hand and that of the (anatomical) 1st proximal phalanx with the 2nd–5th mid phalanges. These data suggest that the missing segment of the normal hand thumb is the metacarpal.
Keywords: five-fingered handtriphalangeal thumbhand post-natal ossification patternhand segments morphometry homology
References
- Bland JM, Altman DG, Elsner JJ, et al. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet. 1986; 1(8476): 307–310.
- Dobbs MB, Dietz FR, Gurnett CA, et al. Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36. J Orthop Res. 2000; 18(3): 340–344.
- Girisha KM, Bidchol AM, Kamath PS, et al. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. Am J Med Genet A. 2014; 164A(4): 898–906.
- Guillem P, Demondion X, Drizenko A, et al. La bio phalange du pouce. Revue générale de la literature. Morphologie. 1999; 83: 27–31.
- Haines RW. The pseudo epiphysis of the first metacarpal of man. J Anat. 1974; 117: 145–158.
- Heiss H. [Bilateral congenital thumbless five-finger hand in mother and child]. Z Anat Entwicklungsgesch. 1957; 120(3): 226–231.
- Heutink P, Zguricas J, van Oosterhout L, et al. The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nat Genet. 1994; 6(3): 287–292.
- Marzke MW, Marzke RF. Evolution of the human hand: approaches to acquiring, analysing and interpreting the anatomical evidence. J Anat. 2000; 197 ( Pt 1): 121–140.
- Marzke MW. Precision grips, hand morphology, and tools. Am J Phys Anthropol. 1997; 102(1): 91–110, doi: 10.1002/(SICI)1096-8644(199701)102:1<91::AID-AJPA8>3.0.CO;2-G.
- Ogden JA, Ganey TM, Light TR, et al. Ossification and pseudoepiphysis formation in the "nonepiphyseal" end of bones of the hands and feet. Skeletal Radiol. 1994; 23(1): 3–13.
- Patel B, Maiolino S. Morphological diversity in the digital rays of primate hands. In Kivell TL, Lemelin, P, Richmond, B.G, et al (eds). The evolution of the primate hand. Springer Science New York. The Evolution of the Primate Hand. 2016: 55–100.
- Pazzaglia UE, Congiu T, Sibilia V, et al. Growth and shaping of metacarpal and carpal cartilage anlagen: application of morphometry to the development of short and long bone. A study of human hand anlagen in the fetal period. J Morphol. 2017; 278(7): 884–895.
- Pazzaglia UE, Congiu T, Sibilia V, et al. Relationship between the chondrocyte maturation cycle and the endochondral ossification in the diaphyseal and epiphyseal ossification centers. J Morphol. 2016; 277(9): 1187–1198.
- Qazi Q, Kassner EG. Triphalangeal thumb. J Med Genet. 1988; 25(8): 505–520.
- Reno PL, Horton WE, Lovejoy CO. Metapodial or phalanx? An evolutionary and developmental perspective on the homology of the first ray's proximal segment. J Exp Zool B Mol Dev Evol. 2013; 320(5): 276–285.
- Rieppel O. Homology, topology, and typology: the history of modern debates. In Hall BK (ed). Homology: the hierarchical basis of comparative biology. Academic Press Inc . Homology. 1994: 63–100.
- Tocheri MW, Orr CM, Jacofsky MC, et al. The evolutionary history of the hominin hand since the last common ancestor of Pan and Homo. J Anat. 2008; 212(4): 544–562.
- Warm A, Di Pietro C, D'Agrosa F, et al. Non-opposable triphalangeal thumb in an Italian family. J Med Genet. 1988; 25(5): 337–339.
- Wieczorek D, Pawlik B, Li Y, et al. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Hum Mutat. 2010; 31(1): 81–89.
- Zguricas J, Dijkstra PF, Gelsema ES, et al. Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb. J Med Genet. 1997; 34(1): 55–62.
- Zuidam JM, Dees EEC, Lequin MH, et al. The effect of the epiphyseal growth plate on the length of the first metacarpal in triphalangeal thumb. J Hand Surg Am. 2006; 31(7): 1183–1188.
- Zuidam JM, Dees EEC, Selles RW, et al. Implications for treatment of variations in length of the first metacarpal in different types of triphalangeal thumbs. J Hand Surg Eur Vol. 2010; 35(1): 65–69.