Determining the frequency of morphological characteristics in a sample of Brazilian children

Perrone, Eduardo; Zanolla, Thais Arbocese; Fock, Rodrigo Ambrósio; Pérez, Ana B.; Brunoni, Décio

doi:10.1016/j.jped.2016.12.010

Cited by 6 publications

(7 citation statements)

References 13 publications

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“…In general, we found that some degree of curvature was ubiquitous, but it was mild in most individuals with our averages falling well below the 10-degree clinical threshold typically used to determine clinodactyly. The 0.8% incidence figure for clinically meaningful clinodactyly in our cohort is in alignment with the 1% figure reported by Marden et al [ 4 ] but differs from the higher incidence estimates reported by others [ 6 , 9 , 10 ]. This may have to do with differences in how the trait was defined or measured or the specific population used in these earlier studies.…”

Section: Discussionsupporting

confidence: 84%

“…Roche [ 10 ] found no age effect in a longitudinal sample of children with down syndrome. More recently, Perrone et al [ 6 ] reported that the rate of clinodactyly declined in older children in their cross-sectional Brazilian cohort. These studies, however, are simply looking at the frequency of clinodactyly (defined as a binary character state) in children at different age points.…”

Section: Discussionmentioning

confidence: 99%

“…Clinodactyly is a continuous morphological trait. When defined as a qualitative (present/absent) or semi-quantitative (mild/moderate/severe) character state, the threshold used can impact estimates of incidence [ 6 ]. Many sources suggest a 10-degree deviation as the threshold for “clinically” meaningful clinodactyly [ 7 ], but there is no universally agreed upon standard and in many cases the evaluation is visual and subjective.…”

Section: Introductionmentioning

confidence: 99%

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Bent pinkies: Quantifying fifth finger clinodactyly in a sample of U.S. adults

et al. 2022

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Mild curvature of the fifth finger (or clinodactyly) is a relatively common trait. While severe forms can cause functional impairment and are a feature of certain congenital syndromes, mild clinodactyly is considered a minor morphological variant. Despite exhibiting continuous variation, clinodactyly is rarely treated as a quantitative trait. Consequently, the degree of fifth finger curvature in the general population and the factors that impact this curvature are not well understood. In the present study, we measured fifth finger curvature in a sample of 1,295 U.S. adults and investigated the role of sex, age and body size. We found that clinodactyly exhibited a non-normal distribution. All participants displayed some degree of curvature, but it tended to be slight with an overall mean of 3.68 degrees (median: 3.58 degrees). In only 0.8% of cases did the curvature exceed the nominal 10-degree threshold for clinically meaningful clinodactyly. We did not find statically significant sex differences. Further, there was no meaningful relationship with height and only a weak positive relationship with age. We found that clinodactyly showed asymmetry; the curvature was greater on the left than on the right fifth finger (p < 2.2e-16), but this was not influenced by sex, age, or height. These results suggest the possibility that the kind of ubiquitous mild clinodactyly observed in the general population may be etiologically distinct from more rare and severe forms of the condition.

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Bent pinkies: Quantifying fifth finger clinodactyly in a sample of U.S. adults

et al. 2022

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“…T A B L E 5 Incidence of minor anomalies and comparison to previous studies Mubungu (2019) DRC (n = 722) Perrone a 2017 Brazil (Perrone et al, 2017) (n = 239) Tsai 1999China (Tsai et al, 1999 Lepig 1987 USA (Leppig et al, 1987) (n = 4,305) Mehes 1983 Hungaria (Mehes, 1985) (n = 4,589)…”

mentioning

confidence: 89%

Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies

Mubungu

Lumaka

Mvuama³

et al. 2020

American J of Med Genetics Pt A

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The evaluation of minor physical variation is crucial in a dysmorphological examination. Currently, data on the spectrum and incidence of minor physical variants in Central African newborns is lacking. We therefore conducted a cross‐sectional descriptive study of 722 newborns recruited within the first 24 hr of life, in two large maternities in Kinshasa, DR Congo. Minor anomalies were defined according to the series of articles in AJMG Part A and coded as human phenotype ontology terms. A total of 97 different morphological variants were recorded of which 13 were common. About 34.8% of the newborn carried one minor anomaly, 11.6% had two, and 4.3% had three minor anomalies. No gender differences were observed, but the incidence of specific anomalies appeared to vary with the geographical origin of parents within the DR Congo. The results of this study will aid clinicians to interpret morphological variation in Central African newborns.

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“…Widow's peak is a morphogenetic trait suggested to be inherited in an autosomal dominant pattern (OMIM), although population studies have shown contradictory results as to whether it is a common or rare normal variant. Differences between genders have also not been specified [9,[16][17][18][19][20].…”

Section: Clinical Significancementioning

confidence: 99%