Carta Acesso aberto Revisado por pares

Single crease on the 5th finger in medical disorders and in normal population.

1979; BMJ; Volume: 16; Issue: 5 Linguagem: Inglês

10.1136/jmg.16.5.406-a

ISSN

1468-6244

Autores

A. Rodewald, Hans Wischerath,

Tópico(s)

Orthopedic Surgery and Rehabilitation

Resumo

Trisomy 5p syndrome SIR, DiLiberti et al. (1977) suggested that trisomy 5p has a clinically recognisable and consistent pheno- type.In their report on 'Complete trisomy 5p ', Brimblecombe et al. (1977) suggest that the pheno- type in trisomy 5p is non-specific.I have also found three cases (males aged 22, 23, and 7 years) in a family with a partial trisomy 5pI 3-*pter, and each of these patients had the following features; a full face with the appearance ofjowls, a long philtrum, convergent strabismus, a bulbous nose, mild malar hypoplasia, prognathism, obesity, and mental retardation.The dermatoglyphs showed a characteristic combination of patterns: an excess of ulnar loops on the fingertips, transversal direction of the dermal ridges on the palms, t" triradii, a unilateral, atypical simian crease, and tibial arches on the hallucal areas.A high total finger ridge count was found in only one case (case 3, TFRC = 167; mean value in the normal male population, x = 145, Rodewald et al., 1977; case 1, TFRC = 102; case 2, TFRC = 100).Several ofthe dermatoglyphic manifestations in the 5p + syndrome are strikingly different from features described in cases with partial monosomy 5p -; a high frequency of whorls on the fingertips, longitu- dinal direction of the dermal ridges on the palms, t or t' triradii or both, a typical simian crease, and distal loops on the hallucal areas.This contrast confirms, in the context of chromosome 5, the hypo- thesis of a 'contre type' that Lejeune et al. (1964) proposed for the clinical picture of trisomy 21 (Down's syndrome) and its countertype, monosomy 21.

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