Prevalence of Congenital Anomalies of the Upper Limbs in Brazil: a descriptive cross-sectional study

Moura, Samuel Ricardo Batista; Nakachima, Luis Renato; Santos, João Baptista Gomes dos; Belloti, João Carlos; Fernandes, Carlos Henrique; Faloppa, Flavio; Moraes, Vinicius Ynoe de; Sabongi, Rodrigo Guerra

doi:10.1590/1516-3180.2023.0349.R1.08042024

Samuel Ricardo Batista Moura Address for correspondence Samuel Ricardo Batista Moura Universidade Federal de São Paulo, São Paulo, SP, Brasil R. Prof. Francisco de Castro, 101 - Vila Mariana, São Paulo - SP, Brasil CEP 04020-050 Tel.: (+55 86) 99930-7174 E-mail: srbmoura@outlook.com

MD.

conceptualization (equal)

data curation (equal)

formal analysis (equal)

methodology (equal)

resources (equal)

writing original draft (equal)

Hand Surgeon, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP), São Paulo (SP), Brazil

https://orcid.org/0000-0001-9248-1136

Luis Renato Nakachima

MD, MSc, PhD.

conceptualization (equal)

data curation (equal)

formal analysis (equal)

methodolog (equal)

writing original draft (equal)

Adjunct Professor, Department of Orthopedics and Traumatology. Discipline of Hand and Upper Limb Surgery, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil

https://orcid.org/0000-0003-1901-9820

João Baptista Gomes dos Santos

MD, MSc, PhD.

conceptualization (equal)

data curation (equal)

formal analysis (equal)

methodology (equal)

resources (equal)

software (equal)

writing original draft (equal)

Adjunct Professor, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil

https://orcid.org/0000-0003-0199-6578

João Carlos Belloti

MD, PhD.

conceptualization (equal)

data curation (equal)

investigation (equal)

methodology (equal)

resources (equal)

visualization (equal)

writing original draft (equal)

Adjunct Professor, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil.

https://orcid.org/0000-0003-3396-479X

Carlos Henrique Fernandes

MD, PhD.

conceptualization (supporting)

data curation (equal)

formal analysis (equal)

methodology (equal)

resources (equal)

writing original draft (supporting)

writing-review and editing (supporting)

Adjunct Professor, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil.

https://orcid.org/0000-0003-0146-6091

Flavio Faloppa

MD, MSc, PhD.

conceptualization (equal)

formal analysis (equal)

project administration (lead)

resources (lead)

supervision (lead)

writing review and editing (equal)

Full Professor, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil

https://orcid.org/0000-0003-3688-8729

Vinicius Ynoe de Moraes

MD, PhD.

conceptualization (equal)

data curation (supporting)

formal analysis (equal)

methodology (supporting)

resources (equal)

writing review and editing (equal)

Orthopedic Surgeon, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil.

https://orcid.org/0000-0002-4933-4007

Rodrigo Guerra Sabongi

MD.

conceptualization (equal)

data curation (supporting)

formal analysis (equal)

methodology (supporting)

resources (equal)

writing review and editing (equal)

Hand Surgeon, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP), São Paulo (SP), Brazil.

https://orcid.org/0000-0003-0164-3596

Address for correspondence Samuel Ricardo Batista Moura Universidade Federal de São Paulo, São Paulo, SP, Brasil R. Prof. Francisco de Castro, 101 - Vila Mariana, São Paulo - SP, Brasil CEP 04020-050 Tel.: (+55 86) 99930-7174 E-mail: srbmoura@outlook.com

Conflicts of interest: None

Editor responsible for the evaluation process:

Paulo Manuel Pêgo-Fernandes, MD, PhD

Hand Surgeon, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP), São Paulo (SP), Brazil

Adjunct Professor, Department of Orthopedics and Traumatology. Discipline of Hand and Upper Limb Surgery, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil

Adjunct Professor, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil

Adjunct Professor, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil.

Full Professor, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil

Orthopedic Surgeon, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPMUNIFESP), São Paulo (SP), Brazil.

Hand Surgeon, Department of Orthopedics and Traumatology, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP), São Paulo (SP), Brazil.

* CAUL	** ICD-10
	Q71.0 - Complete congenital absence of the upper limb(s)
	Q71.1 - Congenital absence of the arm and forearm, with hand presente
	Q71.2 - Congenital absence of the forearm and hand
	Q71.3- Congenital absence of the hand and finger(s)
	Q71.4 - Radius longitudinal reduction defect Club hand (congenital) / Radial hand
Training Deficiency
	Q71.5 - Longitudinal reduction defect of the ulna [ulna]
	Q71.6 - Lobster claw hand
	Q71.8 - Other upper limb reduction defects Congenital shortening of the upper limb(s)
	Q71.9 Defect due to reduction of the upper limb, unspecified
	Q70.0- Coalescence of the fingers (fused fingers)/Complex syndactyly of the fingers with synostosis
Differentiation Deficiency	Q70.1 - Webbed fingers / Simple syndactyly of the fingers without synostosis
	Q70.4- Polysyndactyly
Duplication Deficiency	Q69.0- Supernumerary finger(s)
Duplication Deficiency	Q69.1 - Supernumerary thumb(s)
	Q68.1 - Other congenital musculoskeletal deformities - Congenital hand deformity
Widespread anomalies	Q74.0 - Other congenital malformations of the upper limb(s), including the shoulder girdle
	Q74.3 - Multiple arthrogryposis congenita

ICD – CAUL	Regiões do Brasil
	North	Northeast	West Central	Southeast	South	Total
	LB^* *()** LB= live births;
	3.127.884	8.286.407	2.371.666	11.482.289	3.888.938	29.157.184
	CAUL ^() () CAUL=congenital anomaly of the upper limbs	CAUL ^() () CAUL=congenital anomaly of the upper limbs	CAUL ^() () CAUL=congenital anomaly of the upper limbs	CAUL ^() () CAUL=congenital anomaly of the upper limbs	CAUL ^() () CAUL=congenital anomaly of the upper limbs	CAUL ^() () CAUL=congenital anomaly of the upper limbs	Prevalence
Q69.0- Supernumerary finger(s);	441	3.435	731	6.137	964	11.708	4,02
Q68.1 - Congenital hand deformity;	215	682	212	1.104	443	2.656	0,91
Q71.3 - Congenital absence of the hand and finger(s);	147	392	169	724	280	1.712	0,59
Q74.0- Other Congenital Malformations of the Upper Limbs	136	283	72	583	149	1.223	0,42
Q71.8- Other upper limb reduction defects. Congenital shortening of the upper limb(s);	67	157	51	331	110	716	0,25
Q70.4- Polysyndactyly	44	143	40	271	109	607	0,21
Q70.0- Coalescence of the fingers - Complex syndactyly of the fingers with synostosis	43	152	51	245	99	590	0,20
Q719-Defect of upper limb reduction, unspecified.	55	123	37	246	75	536	0,18
Q71.2- Congenital absence of the forearm and hand	31	92	30	159	72	384	0,13
Q70.1- Webbed fingers Simple syndactyly of the fingers without synostosis	24	124	39	146	42	375	0,13
074.3- Multiple Congenital Arthrogryposis	20	123	15	161	50	369	0,13
Q69.1- Supernumerary thumb(s)	20	59	32	150	43	304	0,10
Q71.6- Lobster claw hand	28	63	16	91	30	228	0,08
Q71.0- Complete congenital absence of the upper limb(s)	19	47	20	67	22	175	0,06
Q71.4- Radius longitudinal reduction defect \| Club hand (congenital) \| Radial hand	09	18	06	50	10	93	0,03
Q71.1- Congenital absence of the arm and forearm, with hand present	05	16	08	24	07	60	0,02
Q71.5- Longitudinal reduction defect of the ulna [ulna];	02	06	04	18	04	34	0,01
Total	1.306	5.915	1.533	10.507	2.509	21.770	7,5

CAUL*	N	NE	WC	SE	S
Q69.0- Supernumerary finger(s);	1,41	4,15	3,08	5,34	2,48
Q68.1 - Congenital hand deformity;	0,69	0,82	0,89	0,96	1,14
Q71.3 - Congenital absence of the hand and finger(s);	0,47	0,47	0,71	0,63	0,72
Q74.0- Other Congenital Malformations of the Upper Limbs	0,43	0,34	0,30	0,51	0,38
Q71.8- Other upper limb reduction defects. Congenital shortening of the upper limb(s);	0,21	0,19	0,22	0,29	0,28
Q70.4- Polysyndactyly	0,14	0,17	0,17	0,24	0,28
Q70.0- Coalescence of the fingers - Complex syndactyly of the fingers with synostosis	0,14	0,18	0,22	0,21	0,25
Q719-Defect of upper limb reduction, unspecified.	0,18	0,15	0,16	0,21	0,19
Q71.2- Congenital absence of the forearm and hand	0,10	0,11	0,13	0,14	0,19
Q70.1- Webbed fingers Simple syndactyly of the fingers without synostosis	0,08	0,15	0,16	0,13	0,11
074.3- Multiple Congenital Arthrogryposis	0,06	0,15	0,06	0,14	0,13
Q69.1- Supernumerary thumb(s)	0,06	0,07	0,13	0,13	0,11
Q71.6- Lobster claw hand	0,09	0,08	0,07	0,08	0,08
Q71.0- Complete congenital absence of the upper limb(s)	0,06	0,06	0,08	0,06	0,06
Q71.4- Radius longitudinal reduction defect \| Club hand (congenital) \| Radial hand	0,03	0,02	0,03	0,04	0,03
Q71.1- Congenital absence of the arm and forearm, with hand present	002	0,02	0,03	0,02	0,02
Q71.5- Longitudinal reduction defect of the ulna [ulna];	0,01	0,01	0,02	0,02	0,01

Variables		Prevalence	IC^* *()** CI – Confidence interval 95%
Variables		Prevalence	Inferior limit	Upper limit
Mother's Age
	20-34	2	2	2,13
	35-49	2	1,87	2,2
	40-44	2,7	2,4	3,18
	45-50	4,2	2,31	6,23
Type of birth
	Cesarean section	7,6	7,55	7,82
	Vaginal	7,1	7,03	7,32
Consultations/prenatal care
	1 to 3	3	2,77	3,27
	4 to 6	2,3	2,26	2,49
	≥ 7	1,9	1,88	2,01
Mother's Education
	1 to 3 years	6,9	6,46	7,53
	4 to 7 years	7,5	7,34	7,8
	8 to 11 years old	7,9	7,77	8,04
	≥ 12 years	6,3	6,15	6,59
Length of Pregnancy
	< 37 weeks	12,9	12,57	13,38
	37 to 41 weeks	6	6,77	6,98
	≥ to 42 weeks	6,9	6,38	7,56
Type of Pregnancy
	Only	7,4	7,32	7,52
	Multiple	9,5	8,77	10,36

Variables		Prevalence	IC 95%
Variables		Prevalence	Inferior limit	Upper limit
Birth weight
	≥ 2499 g	17,6	17,08	18,15
	2500 a 3999 g	6,5	6,42	6,62
	≥ 4000 g	6	6,2	7,05
Sex
	Male	2,3	2,27	2,43
	Female	1,9	1,83	1,98
Race
	White	6	6,66	6,97
	Black	12	12,18	13,37
	brown	7,5	7,37	7,56
	Yellow	6	4,84	7,9
	Indigenous	4	3,94	5,8
Apgar 1st minute
	≥ 7	14	13,95	14,74
	> 7	6	6,47	6,67
Apgar 5th minute
	≥ 7	30	28,76	31,43
	> 7	7	6,92	7,12

[1] Address for correspondence Samuel Ricardo Batista Moura Universidade Federal de São Paulo, São Paulo, SP, Brasil R. Prof. Francisco de Castro, 101 - Vila Mariana, São Paulo - SP, Brasil CEP 04020-050 Tel.: (+55 86) 99930-7174 E-mail: srbmoura@outlook.com

Brasil

Brasil

Prevalence of Congenital Anomalies of the Upper Limbs in Brazil: a descriptive cross-sectional study

ABSTRACT

BACKGROUND:

OBJECTIVES:

DESIGN AND SETTING:

METHODS:

RESULTS:

CONCLUSION: