Determining the frequency of morphological characteristics in a sample of Brazilian children<sup>,</sup>

Perrone, Eduardo; Zanolla, Thais Arbocese; Fock, Rodrigo Ambrosio; Perez, Ana Beatriz Alvarez; Brunoni, Decio

doi:10.1016/j.jped.2016.12.010

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Original articles • J. Pediatr. (Rio J.) 93 (6) • Nov-Dec 2017 • https://doi.org/10.1016/j.jped.2016.12.010 copy

Determining the frequency of morphological characteristics in a sample of Brazilian children^☆ ☆ Please cite this article as: Perrone E, Zanolla TA, Fock RA, Perez AB, Brunoni D. Determining the frequency of morphological characteristics in a sample of Brazilian children. J Pediatr (Rio J). 2017;93:592-600. ^,^☆☆ ☆☆ Study carried out at Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

Objective:

To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity.

Methods:

This was a cross-sectional study that evaluated 239 children with typical development (between 3 and 13 years old) regarding the presence of 82 morphological characteristics. A previously described protocol, based on the London Dysmorphology Database, was applied to evaluate the sample. This protocol was culturally adapted to Brazilian Portuguese.

Results:

The frequency of 82 morphological characteristics was established in the sample; of 82 characteristics, 50% were considered morphological anomalies (frequency less than 4%). At least 25% of the sample presented more than one minor morphological anomaly. Age was shown to influence the frequency of the following morphological characteristics: widow's peak, prominent antihelix, prominent upper lip, irregular or crowded teeth, and clinodactyly, but had no influence on the frequency of minor morphological anomalies. Gender influenced dysplastic ears and attached earlobe, but had no influence on the frequency of minor morphological anomalies; ethnicity showed influence on camptodactyly and prominent antihelix. A statistically significant divergence was observed regarding 43 of the 73 morphological characteristics that could be compared with literature data (58.9%).

Conclusions:

The study determined the frequency of 82 morphological characteristics in 239 children with typical development. Age was the variable that showed more influence on the frequency of morphological characteristics, and comparison with literature data showed that the frequency depends on variables such as age and ethnicity.

KEYWORDS
Anomalies; Morphological; Frequency; Brazilian; Children

Morphological characteristic	Frequency (%)	95% CI	n
Short stature^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Unusual hair whorl/pattern	20	14.65-25.35	215
Widow's peak	5.9	2.91-8.89	239
Frontal upsweep/cowlick^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.3	-0.14-2.74	239
Asymmetric ears	5	2.24-7.76	239
Dysplastic ears	13.4	9.08-17.72	239
Large ears (macrotia)^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.4	-0.4-1.2	239
Low-set ears^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Posteriorly rotated ears^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Ear pits^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0	DNA	239
Prominent ears	9.6	5.87-13.33	239
Simple ears	9.2	5.54-12.86	239
Small ears/microtia^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.7	0.06-3.34	239
Prominent antihelix	33.9	27.9-39.9	239
Notched ear helix	8.4	4.8-11.92	239
Crumpled ear helix^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0	DNA	239
Over-folded ear helix	5.4	2.53-8.27	239
Pits of ear helix^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0	DNA	239
Prominent ear helix	9.6	5.87-13.33	239
Attached earlobe	16.3	11.62-20.98	239
Large/wide nose	15.1	10.56-19.64	239
Short/small nose^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.4	-0.4-1.2	239
Asymmetric face^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Coarse facial features^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0	DNA	239
Flat face^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.3	-0.14-2.74	239
Mid-face hypoplasia^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.3	-0.14-2.74	239
Small face^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	2.1	0.28-3.92	239
Long/narrow face	5	2.24-7.76	239
Triangular face	4.2	1.66-6.74	239
Dimpled or grooved chin	3.8	1.38-6.22	239
Pointed chin^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.3	-0.14-2.74	239
Flat zygomatic region^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.3	-0.14-2.74	239
Prominent mandible/prognathism	2.9	0.77-5.03	239
Small mandible/micrognathia	2.5	0.52-4.48	239
Long philtrum	12.1	8.0-16.3	239
Prominent/deep philtrum	9.2	5.54-12.86	239
Short philtrum	8.4	4.88-11.92	239
Simple/absent/flat philtrum^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	2.1	0.28-3.92	239
Wide philtrum	2.9	0.77-5.03	239
Down-turned corners^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Cupid bow shape of mouth^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.7	0.06-3.34	239
Macrostomia^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Microstomia	2.5	0.52-4.48	239
Open-mouth appearance^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.4	-0.4-1.2	239
Everted/prominent lower lip^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Thick lower lip	8.8	5.21-12.9	239
Cleft upper lip (nonmidline)^a a Characteristic considered as a morphological anomaly (considering the 4% threshold). ,^b b Characteristic considered as a major morphological anomaly. DNA, does not apply.	0	DNA	239
Prominent upper lip	7.5	1.38-6.22	239
Thin upper lip	3.8	1.38-6.22	239
Enamel abnormalities^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Crowded or irregular teeth	12.6	8.39-16.81	239
Abnormal tooth shape^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	2.1	0.28-3.92	239
Small teeth^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0	DNA	239
Widely spaced teeth	4.6	1.94-7.26	239
Large hands^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Small hands	3.8	1.38-6.22	239
Camptodactyly^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.3	-0.14-2.74	239
Clinodactyly	16.7	11.97-21.43	239
Cutaneous syndactyly of the fingers^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.4	-0.4-1.2	239
Tapering fingers	3.8	1.38-6.22	239
Thin fingers	7.5	1.38-6.22	239
Hypoplastic/short metacarpals^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0	DNA	239
Short phalanges^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.7	0.06-3.34	239
Wide phalanges^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.4	-0.4-1.2	239
Long phalanges^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	1.7	0.06-3.34	239
Broad thumbs	7.5	1.38-6.22	239
Dystrophic (dysplastic), including striated nails^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.4	-0.41-1.21	235
Hyperconvex	8	4.55-11.45	238
Hypoplastic/small nails	2.9	0.77-5.03	238
Short nails	10.5	6.61-14.39	238
Clubfoot varus^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0	DNA	239
Large feet^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	2.1	0.28-3.92	239
Small feet^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Wide feet	10.9	6.9-14.85	239
Hallux valgus	10	6.2-13.8	239
Broad toes	3.3	1.04-5.56	239
Overlapping toes (including clinodactyly)	65.7	59.68-71.72	239
Short toes	2.5	0.52-4.48	239
Syndactyly of 2-3 toes^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.4	-0.4-1.2	239
Syndactyly of toes (except for 2-3 toes)^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.8	-0.33-1.93	239
Wide-spaced toes	9.2	5.54-12.86	239
Camptodactyly/hammer toes^a a Characteristic considered as a morphological anomaly (considering the 4% threshold).	0.4	-0.4-1.2	239

Morphological characteristic	Observed frequency (%) (Perrone, 2016)	Observed frequency (%) (Merks et al., 2006)¹²12 Merks JH, Ozgen HM, Cluitmans TL, van der Burg-van Rijn JM, Cobben JM, van Leeuwen FE, et al. Normal values for morphological abnormalities in school children. Am J Med Genet A. 2006;140A:2091-109.	Z-value	p-value
Unusual hair whorl/pattern	20	0.1	-13.6	<0.001
Frontal upsweep/cowlick	1.3	15.8	6.0	<0.001
Asymmetric ears	5.0	1.7	-2.95	0.003
Dysplastic ears	13.4	0.0	-11.2	<0.001
Prominent ears	9.6	2.6	-4.9	<0.001
Simple ears	9.2	0.1	-8.9	<0.001
Notched ear helix	8.4	0.0	-8.8	<0.001
Prominent ear helix	9.6	2.6	-4.9	<0.001
Large/wide nose	15.1	0.4	-11	<0.001
Short/small nose	0.4	9.3	4.65	<0.001
Hypoplasia of the middle third of the face	1.3	0	-3.42	<0.001
Long/narrow face	5.0	2.2	-2.43	0.01
Triangular face	4.2	0.1	-5.79	<0.001
Prominent mandible/prognathism	2.9	0.3	-3.88	<0.001
Long philtrum	12.1	3.1	-5.68	<0.001
Prominent/deep philtrum	9.2	1.8	-5.63	<0.001
Short philtrum	8.4	2.8	-3.92	<0.001
Simple/absent/flat philtrum	2.1	5.3	2.1	0.03
Down-turned corners	0.8	0.1	-1.97	0.047
Open-mouth appearance	0.4	0.0	-1.96	0.04
Thick lower lip	8.8	14.5	2.32	0.02
Prominent upper lip	7.5	2.1	-4.29	<0.001
Thin upper lip	3.8	8.9	2.66	0.007
Enamel abnormalities	0.8	0	-2.78	0.005
Irregular or crowded teeth	12.6	0	-10.9	<0.001
Abnormal tooth shape	2.1	0.1	-3.8	<0.001
Widely spaced teeth	4.6	0	-6.54	<0.001
Large hands	0.8	0	-2.78	0.005
Small hands	3.8	0	-5.9	<0.001
Camptodactyly	1.3	0	-3.4	0.006
Clinodactyly	16.7	3.6	-12.6	<0.001
Tapering fingers	3.8	0.4	-4.36	<0.001
Broad thumbs	7.5	0.9	6.2	<0.001
Hyperconvex	8.0	0	-8.65	<0.001
Hypoplastic/small nails	2.9	0.2	-4.2	<0.001
Short nails	10.5	0.9	-7.9	<0.001
Large feet	10.9	0.3	-9.3	<0.001
Hallux valgus	10.0	2.4	-5.4	<0.001
Broad toes	3.3	0.7	-3.4	<0.001
Overlapping toes (including clinodactyly)	65.7	0.3	-26.7	<0.001
Short toes	2.5	0.2	-3.8	<0.001
Syndactyly of toes (except 2-3 toes)	0.8	0	-2.78	0.005
Wide-spaced toes	9.2	26.3	5.59	<0.001

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[1] * Corresponding author. E-mail:eduperrone@uol.com.br, duperrone@gmail.com (E. Perrone).