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BACKGROUND: Polydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020. METHODS: A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with polydactyly, while controls consisted of infants without congenital abnormality, matched in terms of birth date and hospital. Prevalence of polydactyly was calculated and risk factors were assessed through odds ratios obtained by logistic regression models, considering a 95% confidence interval. RESULTS: Among the 558,255 births included in the study, 848 cases of polydactyly were identified, resulting in a prevalence rate of 15.19 per 10,000 live births. Risk factors associated with polydactyly included male newborn sex, pregestational diabetes, and a family history of malformation among first-degree relatives. CONCLUSION: These findings highlight the importance a surveillance system aimed to characterize populations with congenital abnormalities, providing a better option for analyzing risk factors, help improving prevention, diagnosis, notification, and optimal treatment in patients.

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BACKGROUND: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. OBJECTIVES: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. METHODS: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. RESULTS: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. CONCLUSIONS: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.

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El síndrome de Bardet-Biedl (SBB) es una entidad poco frecuente, con gran heterogeneidad clínica y genética. Pertenece a las ciliopatías y tiene un modo de herencia autosómico recesivo. Hasta la fecha se han identificado más de 26 genes asociados. Afecta múltiples sistemas con compromiso oftalmológico, renal, cognitivo, esquelético, gonadal y ponderal. Su diagnóstico se basa en criterios clínicos y se confirma mediante estudios genéticos específicos. Presentamos el caso de un paciente de 2 años y 7 meses de edad, con polidactilia, obesidad, retraso del neurodesarrollo y afección renal en quien se arribó al diagnóstico clínico de SBB con posterior confirmación mediante estudio molecular. Se detectó una variante patogénica en homocigosis en el gen BBS2. La sospecha y confirmación diagnóstica permitieron el manejo adecuado del paciente, planificar el seguimiento apropiado y completar el asesoramiento genético familiar

Bardet-Biedl syndrome (BBS) is a rare entity that holds a great clinical and genetic heterogeneity. It is a ciliopathy and has an autosomal recessive inheritance. To this day more than 26 associated genes have been identified. It affects multiple aspects predominantly ophthalmological, renal, cognitive, skeletal, gonadal and weight. The diagnosis is based on clinical criteria and confirmed by specific genetic studies. We describe a case of a 2-year-and 7 month old patient with polydactyly, obe39 sity, neurodevelopmental delay and kidney dysplasia in which clinical diagnosis was suspected by criteria and subsequently has confirmation by molecular study. An homozygous pathogenic variant was detected in the BBS2 gene. The diagnostic suspicion and later confirmation allowed the proper management of this patient as well as an appropriate follow-up and complete genetic family counseling

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OBJECTIVE: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. CASE DESCRIPTION: This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis. COMMENTS: Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.

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BACKGROUND: Congenital anomalies represent an important global health issue. Data on the prevalence and pattern of congenital anomalies in the Caribbean region are scarce and lacking altogether in Aruba, Bonaire and Curaçao (ABC islands). METHODS: We performed a population-based surveillance study to determine the prevalence of structural congenital anomalies in the ABC islands, including all live births and stillbirths between January 1, 2008 and December 31, 2017 with major congenital anomalies according to EUROCAT guide 1.5. Terminations of pregnancy for fetal anomaly were included as well. Cases were identified by active case ascertainment, using multiple sources including pediatric patient files and discharge letters, delivery records, and clinical genetic patient files. Total and subgroup prevalence rates were compared between the three islands and to the French West Indies and Northern Netherlands. RESULTS: Total prevalence of congenital anomalies on the ABC islands was 242.97 per 10,000 births. Total prevalence of congenital anomalies in Bonaire (325.15 per 10,000 births) was higher compared to Aruba (233.29 per 10,000 births) and Curaçao (238.58 per 10,000 births), which was mainly attributable to a higher prevalence of limb anomalies, in particular polydactyly, in Bonaire. Total prevalence of congenital anomalies on the ABC islands was comparable to the French West Indies (248.69 per 10,000 births) but significantly lower compared to the Northern Netherlands (298.98 per 10,000 births). In the subgroup prevalence analysis, the prevalence of polydactyly and atrial septal defect on the ABC islands was significantly higher compared with the French West Indies and the Northern Netherlands, while the prevalence of congenital anomalies of the kidney and urinary tract and genetic disorders was significantly lower. CONCLUSIONS: This is the first study to establish the prevalence and pattern of congenital anomalies on the ABC islands, which is important to inform healthcare managers and policymakers and to provide a basis for continuous surveillance of congenital anomalies.

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El síndrome de Bardet Biedl es un síndrome genético de herencia autosómica recesiva con compromiso multisistémico y gran variabilidad en su presentación clínica; son características la obesidad, la polidactilia, el hipogonadismo y las alteraciones renales, visuales y cognitivas. Pertenece a las llamadas ciliopatías. El diagnóstico es clínico y puede ser confirmado por estudios genéticos. No existe un tratamiento específico de la patología; se requiere un abordaje multidisciplinario. Se presenta el caso de una paciente de 13 años con obesidad e hiperfagia, diabetes tipo 2, hipotiroidismo, polidactilia, alteraciones del aprendizaje y alteraciones visuales. Se le realizó un panel genético para obesidad en el que se detectaron dos variantes heterocigotas patológicas en el gen BBS2.

Bardet Biedl syndrome is an autosomal recessive ciliopathie. It is a pleiotropic disorder characterised by retinal dystrophy, renal dysfunction, polydactyly, obesity, cognitive deficitand hypogenitalism. Diagnosis is based on clinical features. Molecular genetic testing is available. There is no specific treatment, a multidisciplinary approach is required. We report the case of a 13-year-old female patient with obesity and hyperphagia, type 2 diabetes, hypothyroidism, polydactyly,cognitive deficit and visual impairment. A multigenic panel allowed the identification of two heterozygous pathogenic variants in the BBS2 gene.

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Bardet Biedl syndrome is an autosomal recessive ciliopathie. It is a pleiotropic disorder characterised by retinal dystrophy, renal dysfunction, polydactyly, obesity, cognitive deficit and hypogenitalism. Diagnosis is based on clinical features. Molecular genetic testing is available. There is no specific treatment, a multidisciplinary approach is required. We report the case of a 13-year-old female patient with obesity and hyperphagia, type 2 diabetes, hypothyroidism, polydactyly, cognitive deficit and visual impairment. A multigenic panel allowed the identification of two heterozygous pathogenic variants in the BBS2 gene.

El síndrome de Bardet Biedl es un síndrome genético de herencia autosómica recesiva con compromiso multisistémico y gran variabilidad en su presentación clínica; son características la obesidad, la polidactilia, el hipogonadismo y las alteraciones renales, visuales y cognitivas. Pertenece a las llamadas ciliopatías. El diagnóstico es clínico y puede ser confirmado por estudios genéticos. No existe un tratamiento específico de la patología; se requiere un abordaje multidisciplinario. Se presenta el caso de una paciente de 13 años con obesidad e hiperfagia, diabetes tipo 2, hipotiroidismo, polidactilia, alteraciones del aprendizaje y alteraciones visuales. Se le realizó un panel genético para obesidad en el que se detectaron dos variantes heterocigotas patológicas en el gen BBS2.

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Spontaneous polydactyly has been described in several species, but only one report about it in Swiss mice. The aim of the current study was to report the spontaneous occurrence of pre-axial polydactyly in Swiss mice. Clinical examination showed one extra toe laterally to the first digit, in the plantar region, alopecia in the back, altered face growth anatomy and changed perineal region anatomy. Pre-axial polydactyly in the tibial side, fused metatarsals and Y-shaped free phalanges were evidenced in the radiographic images. Pre-axial polydactyly observed in the plantar region differed from that in reports on albino Swiss mice with post-axial polydactyly (Po/Po+) phenotype featured by one extra toe in the ulnar side of one, or both, front limbs, which is the dominant feature. The observed findings highlight the importance of both clinical examinations and close attention by professionals involved in rodents’ breeding on physical changes resulting from different causes, including the genetic ones, since they reveal mutations and, sometimes, new biomodels.

A polidactilia espontânea foi descrita em várias espécies, mas há apenas um relato em camundongos Swiss. O objetivo do presente estudo foi relatar uma ocorrência de polidactilia pré-axial em camundongos Swiss. O exame clínico revelou um dedo extra lateralmente ao primeiro dedo na região plantar, alopecia dorsal, anatomias facial e da região perineal alteradas. Nas imagens radiográficas foram evidenciados polidactilia pré-axial no lado tibial, metatarsos fundidos e falanges livres em forma de Y. A polidactilia pré-axial observada diferiu do relato existente de polidactilia pós-axial (Po/Po+) caracterizado por um dedo extra no lado ulnar de um ou ambos os membros anteriores e de característica dominante. Os achados observados destacam a importância dos exames clínicos e da atenção cuidadosa dos profissionais envolvidos na criação de roedores sobre as alterações físicas decorrentes de diferentes causas, inclusive as genéticas, em revelar mutações e, às vezes, novos biomodelos.

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Spontaneous polydactyly has been described in several species, but only one report about it in Swiss mice. The aim of the current study was to report the spontaneous occurrence of pre-axial polydactyly in Swiss mice. Clinical examination showed one extra toe laterally to the first digit, in the plantar region, alopecia in the back, altered face growth anatomy and changed perineal region anatomy. Pre-axial polydactyly in the tibial side, fused metatarsals and Y-shaped free phalanges were evidenced in the radiographic images. Pre-axial polydactyly observed in the plantar region differed from that in reports on albino Swiss mice with post-axial polydactyly (Po/Po+) phenotype featured by one extra toe in the ulnar side of one, or both, front limbs, which is the dominant feature. The observed findings highlight the importance of both clinical examinations and close attention by professionals involved in rodents breeding on physical changes resulting from different causes, including the genetic ones, since they reveal mutations and, sometimes, new biomodels.(AU)

A polidactilia espontânea foi descrita em várias espécies, mas há apenas um relato em camundongos Swiss. O objetivo do presente estudo foi relatar uma ocorrência de polidactilia pré-axial em camundongos Swiss. O exame clínico revelou um dedo extra lateralmente ao primeiro dedo na região plantar, alopecia dorsal, anatomias facial e da região perineal alteradas. Nas imagens radiográficas foram evidenciados polidactilia pré-axial no lado tibial, metatarsos fundidos e falanges livres em forma de Y. A polidactilia pré-axial observada diferiu do relato existente de polidactilia pós-axial (Po/Po+) caracterizado por um dedo extra no lado ulnar de um ou ambos os membros anteriores e de característica dominante. Os achados observados destacam a importância dos exames clínicos e da atenção cuidadosa dos profissionais envolvidos na criação de roedores sobre as alterações físicas decorrentes de diferentes causas, inclusive as genéticas, em revelar mutações e, às vezes, novos biomodelos.(AU)

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La incurvación anterolateral congénita de la tibia asociada con polidactilia (congenital anterolateral tibial bowing associated with polydactyly) es una deformidad extremadamente rara. Solo se han documentado 21 casos en la bibliografía inglesa. Aunque existe una estrecha relación entre la incurvación anterolateral de la tibia, la seudoartrosis congénita de la tibia y la neurofibromatosis tipo 1, la incurvación anterolateral congénita de la tibia asociada con polidactilia es una entidad específica con un pronóstico más favorable. Comunicamos otro caso y también revisamos los casos de este cuadro ya reportados con respecto a las deformidades asociadas, el diagnóstico y el tratamiento. Nivel de Evidencia: IV

The congenital anterolateral tibial bowing associated with polydactyly (CABTP) is an extremely rare deformity. To the best of our knowledge, only 21 cases have been documented in the English literature. Although there is a strong relationship between anterolateral bowing of the tibia, congenital pseudoarthrosis of the tibia (CPT), and neurofibromatosis type 1 (NF1), CATBP is a specific entity associated with a more favorable prognosis. We report a new CABTP case and our literature review on the previously reported cases of CABTP concerning its associated deformities, diagnosis, and treatment. Level of Evidence: IV

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