Comparison Between Surgical Techniques for Correction of Congenital Syndactyly: A Systematic Review and Meta Analysis.

This review aimed to assess which surgical technique has better outcomes to correct one of the most common congenital anomalies of the upper limb: syndactyly. The following databases were used in the search: PubMed, Embase, Cochrane (CENTRAL), LILACS, SciELO, Scopus and Web of Science, on October 27, 2022. Studies that described a surgical technique for correcting syndactyly and evaluated surgical complications were included. Studies about noncongenital or foot syndactyly were excluded. The risk of bias was assessed using a specific method for case reports. For synthesis of results, the characteristics of the studies and techniques were demonstrated by a qualitative analysis. Meta-analysis models were applied for complications, functionality, and aesthetic. 73 studies were included, of which 70 were series or case reports, 27 studies did not use skin grafts and 7 studies used external fixators. To evaluate functional results, 42 studies used only the surgeon's opinion. Meta-analyses showed a higher incidence of scar defects when using skin grafts and of infection when using external fixators. There was no difference for web creep and readmission. Few studies evaluated results using the VSS scale, showing worse scar pigmentation when skin grafts were used, but there was no difference in other parameters (PROSPERO CRD42022368930).

Polybrachysyndactyly in all 4 extremities: Case report.

INTRODUCTION AND IMPORTANCE: Polybrachysyndactyly is the combination of malformations and is considered a congenital anomaly that is very difficult to treat. In addition to presenting as a disabling entity, it is a reason for little acceptance under the aesthetic standards established by society. CASE PRESENTATION: 6-year-old male patient with polybrachysyndactyly in all 4 extremities. The parents rejected surgery at a younger age, however, the social/aesthetic pressure exerted on the patient at school and the child's inability to perform activities in a common way, motivated them to make a new decision. CLINICAL DISCUSSION: Different surgical techniques were used on all four extremities. A soft tissue technique was performed on the pinkies of both feet and ray cuts to correct syndactyly of both thumbs of the feet and middle fingers of both hands, and excision. Extirpations were obtained: one thumb of the right foot, one thumb of the left foot and two middle fingers (one of each hand). He was discharged after recovery from surgery. CONCLUSION: Cases of polysyndactyly are considered extremely rare, the first thing to evaluate is the presence of other signs that could be part of a syndromic association in order to proceed with surgical intervention that allows the patient to lead a life as far away from aesthetic stigmas that could damage his mental health. EVIDENCE BASED MEDICINE RANKING: Level IV.

"Unum digitum":Caracterización clínica y radiológica de la sindactilia. A propósito de una serie de casos / "Unum Digitum": Clinical and Radiological Characterization of Syndactyly. In Relation to a Number of Cases

Resumen La sindactilia es una de las anomalías congénitas más comunes de las extremidades. Consiste en una malformación digital en la que los dedos adyacentes de manos y/o pies están fusionados por una falla en su separación durante el desarrollo gestacional. Esta se puede categorizar como completa hasta la punta de los dedos o incompleta y simple cutánea o compleja con fusión ósea. La forma complicada comprende una alteración importante de la anatomía digital y generalmente es sindrómica. La importancia del diagnóstico y tratamiento oportuno radica en el impacto cosmético y funcional de la mano, siendo la principal herramienta de trabajo del ser humano, y dada su compleja anatomía y función, la que nos diferencia de otras especies, es imperativa la corrección antes de la fase de secuelas, siendo necesario en la gran mayoría de casos el tratamiento quirúrgico.

Abstract Syndactyly is one of the most common congenital anomalies of the extremities. It consists of a digital malformation in which the adjacent fingers and/or toes are fused by a failure to separate them during gestational development. This can be classified as complete up to the fingertips or incomplete and simple cutaneous or complex with bony fusion. The complicated form involves a significant alteration of the digital anatomy and is usually syndromic. The importance of timely diagnosis and treatment lies in the cosmetic and functional impact of the hand, being the main working tool of the human being, and given its complex anatomy and function, which differentiates us from other species, it is imperative the correction before the sequelae phase, being necessary in the vast majority of cases surgical treatment.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.

BACKGROUND: Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. OBJECTIVE: The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. METHODS: In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. RESULTS: The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. STUDY LIMITATION: Gene expression studies are absent that would have strengthened the findings of computational analysis. CONCLUSION: The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. Objective The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. Methods In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. Results The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. Study limitation Gene expression studies are absent that would have strengthened the findings of computational analysis. Conclusion The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

From Mendel laws to whole genetic association study to decipher the swine mulefoot phenotype.

The swine mulefoot (SM) is a rare condition characterized by a non-cloven hoof due to the partial or total fusion of the phalanges. No comprehensive study has been conducted to identify associated markers with this phenotype until now. We aimed to characterize the association between SNP and the mulefoot phenotype using a Genome-Wide Association Study (GWAS). An experimental population was produced using a half-sib mating where the male had the mulefoot phenotype and the females (n = 6) had cloven hoofs. The cross resulted in 27 (47%) animals with the mulefoot characteristic and 30 (53%) normal animals, indicating the possible dominant gene action. Animals were further genotyped using the Illumina PorcineSNP50k BeadChip, and SNPs were tested for associations. Twenty-nine SNPs located on the SSC15, SSC4, and SSCX were associated with the mulefoot phenotype (p-value <5 × 10-5). Six markers were found in the intronic regions of VWC2L, CATIP, PDK3, PCYT1B, and POLA1 genes. The marker rs81277626, on SSC15:116,886,110 bp, is located in the Von Willebrand Factor C Domain (VWC2L), a possible functional candidate gene. The VWC2L is part of a biological process involved with the bone morphogenetic protein (BMP) signaling pathway, previously associated with syndactyly in other species. In conclusion, the identified markers suggest the involvement of the VWC2L gene in the SM phenotype in this population.

Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome

Abstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, is affected, resulting in the loss of voltage-dependent calcium channel inactivation. Relevant clinical characteristics: (1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This study presents the case of a female newborn who suffered a cardiorespiratory arrest, secondary to ventricular arrhythmia. A prolonged QT interval, combined with 2:1 AV block, was also identified, requiring a definitive cardiac pacemaker implant that, during inpatient care, developed pulmonary sepsis, followed by death.

Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.

The purpose of this work was to establish DNA marker frequencies for genetic disorders, colour, horned/polled trait, and major genes of importance for productive and reproductive traits in Blanco Orejinegro (BON) cattle. The Blanco Orejinegro breed is a Colombian creole breed characterized by a white hair coat on black skin with black ears, black hair on the middle part of the legs, and absence of horns. We genotyped 420 animals of Colombia, 70 with the GGP-Bovine 150 K chip and 350 with the GGP-Bovine 50 K chip. The markers were associated with 50 genetic diseases, 52 major gene variants related to productive traits, and 12 variants related to coat coloration, presence of horns, and adaptation, selected from the information contained in the chips. Genotype frequencies were estimated using the R statistical program. Genetic disorder annotations were derived using the Online Mendelian Inheritance in Animals tool (OMIA) and the average inbreeding coefficient (F) (n = 7799) using the MTDFNRM program. Carriers were found for 16 of the genetic disorders evaluated but with low frequencies (0.24 to 2.46%); no homozygous animals were found for the disorders. Carriers were associated with disorders such as bovine leukocyte adhesion deficiency (BLAD), deficiency of uridine monophosphate synthase (DUMPS), syndactyly, and epidermolysis bullosa (EB). The F was 4.41%. Concerning the genes associated with colour (TYR, MC1R, and PMEL), alleles related to black pigmentation, the absence of horns (polledness), and slick coat (an adaptive trait) were highly frequent (> 81.90%). Markers associated with milk production and quality, yellow fat, and fertility showed variable frequencies, indicating selection potential. Allele frequency of genetic disorders in BON cattle was low, suggesting few genetic disorder problems, with syndactyly being the most frequent condition. The markers associated with colour and polledness were almost fixed, with a frequency at or near 100%. Production and reproduction markers showed variability for selection.

Macrodactilia con sindactilia completa compleja en mano: reporte de caso / Macrodactylia with complete complex syndactyly in hand: case report

RESUMEN La macrodactilia es una anormalidad congénita rara que se presenta en el 0.9% de malformaciones en miembro superior. Se caracteriza por un crecimiento excesivo de los tejidos blandos, de los huesos y de los dedos. El principal objetivo del tratamiento es obtener una mano funcional y estéticamente aceptable que permita un desarrollo psicomotor adecuado. Se reporta el caso de paciente con macrodactilia junto con sindactilia compleja por fusión de la falange distal u sinoniquia asociada en dedos medio y anular de mano izquierda en donde a los 3 meses posteriores a la cirugía, hubo mejoría funcional y estética. MÉD.UIS.2021;34(2): 89-95.

ABSTRACT Macrodactyly is a rare congenital abnormality that occurs in 0.9% of upper limb malformations. It is characterized by an overgrowth of the soft tissues, bones, and fingers. The main objective of the treatment is to obtain a functional and aesthetically acceptable hand that allows adequate psychomotor development. The case of a patient with macrodactyly is reported together with complex syndactyly due to fusion of the distal phalanx or associated synonichia in middle and ring fingers of the left hand, where at 3 months after surgery there was functional and aesthetic improvement. MÉD.UIS.2021;34(2): 89-95.

The skin of birds' feet: Morphological adaptations of the plantar surface.

The skin of the foot provides the interface between the bird and the substrate. The foot morphology involves the bone shape and the integument that is in contact with the substrate. The podotheca is a layer of keratinized epidermis forming scales that extends from the tarsometatarsus to the toe extremities. It varies in size, shape, amount of overlap and interacts with the degree of fusion of the toes (syndactyly). A study of toe shape and the podotheca provides insights on the adaptations of perching birds. Our analysis is based on micro-CT scans and scanning electron microscopy images of 21 species from 17 families, and includes examples with different orientations of the toes: zygodactyl (toes II and III forward), anisodactyl (toes II, III, and IV forward), and heterodactyl (toes III and IV forward). We show that in these three groups, the skin forms part of a perching adaptation that involves syndactyly to different degrees. However, syndactyly does not occur in Psittacidae that use their toes also for food manipulation. The syndactyly increases the sole surface and may reinforce adherence with the substrate. Scale shape and toe orientation are involved in functional adaptations to perch. Thus, both bone and skin features combine to form a pincer-like foot.

Lethal and semi-lethal mutations in Holstein calves in Uruguay / Mutações letais e semi-letais em bezerros da raça Holandesa no Uruguai

Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the countrys economy, but high levels of inbreeding have decreased the breeds fertility in recent decades. This study investigated the presence and diffusion of lethal and semi-lethal alleles causing embryo death, abortions, fetal malformations, and neonatal diseases in Holstein calves. Using the GeneSeek® Genomic Profiler Bovine 50K BeadChip, we genotyped 383 calves (1-30 days-old) from 27 farms located in the main dairy region of Uruguay. Results showed a high prevalence of farms (85%) and carrier calves (21%), including one or more of the following semi-lethal or lethal alleles: Syndactylism (4.18%), brachyspina (3.39%), cholesterol deficiency haplotype (2.61%), complex vertebral malformation (2.09%), bovine leukocyte adhesion deficiency (1.04%s), and Holstein haplotypes HH1 (4.44%), HH3 (3.13%), HH4 (1.04%), and HH5 (0.26%). Most of these alleles had not been recognized previously in Uruguay. We concluded that lethal and semi-lethal mutations are widespread in the Holstein breed in Uruguay. More studies are required to determine their impact on dairy cattle fertility.(AU)

Os distúrbios genéticos nos bovinos da raça Holandesa são um problema de saúde que cresceu nos últimos anos a nível mundial, comprometendo a sustentabilidade da produção leiteira moderna. No Uruguai, a produção leiteira com base na raça Holstein é um dos setores mais importantes da economia do país, mas altos níveis de endogamia diminuíram a fertilidade da raça nas últimas décadas. O objetivo deste estudo foi investigar a presença e difusão de alelos letais e semi-letais causando morte de embriões, abortos, malformações fetais e doenças neonatais em bezerros da raça Holandesa. Usando o BeadChip Bovino 50K GeneSeek® Genomic Profiler, genotipamos 383 bezerros (menos de um mês) de 27 fazendas localizadas na principal região leiteira do Uruguai. Os resultados mostraram uma alta prevalência de fazendas (85%) e bezerros portadores (21%), incluindo um ou mais dos seguintes alelos letais ou semi-letais: sindactilismo (4,18%), braquipespina (3,39%), haplótipo de deficiência de colesterol (2,61%), malformação vertebral complexa (2,09%), deficiência de adesão de leucócitos bovinos (1,04% s) e haplótipos de Holstein HH1 (4,44%), HH3 (3,13%), HH4 (1,04%) e HH5 (0,26%). A maioria desses alelos não havia sido reconhecida anteriormente no país. Concluímos que as mutações letais e semi-letais são comuns na raça Holstein no Uruguai. Mais estudos são necessários para determinar seu impacto na fertilidade do gado leiteiro.(AU)

Lethal and semi-lethal mutations in Holstein calves in Uruguay / Mutações letais e semi-letais em bezerros da raça Holandesa no Uruguai

ABSTRACT: Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country's economy, but high levels of inbreeding have decreased the breed's fertility in recent decades. This study investigated the presence and diffusion of lethal and semi-lethal alleles causing embryo death, abortions, fetal malformations, and neonatal diseases in Holstein calves. Using the GeneSeek® Genomic Profiler™ Bovine 50K BeadChip, we genotyped 383 calves (1-30 days-old) from 27 farms located in the main dairy region of Uruguay. Results showed a high prevalence of farms (85%) and carrier calves (21%), including one or more of the following semi-lethal or lethal alleles: Syndactylism (4.18%), brachyspina (3.39%), cholesterol deficiency haplotype (2.61%), complex vertebral malformation (2.09%), bovine leukocyte adhesion deficiency (1.04%s), and Holstein haplotypes HH1 (4.44%), HH3 (3.13%), HH4 (1.04%), and HH5 (0.26%). Most of these alleles had not been recognized previously in Uruguay. We concluded that lethal and semi-lethal mutations are widespread in the Holstein breed in Uruguay. More studies are required to determine their impact on dairy cattle fertility.

RESUMO: Os distúrbios genéticos nos bovinos da raça Holandesa são um problema de saúde que cresceu nos últimos anos a nível mundial, comprometendo a sustentabilidade da produção leiteira moderna. No Uruguai, a produção leiteira com base na raça Holstein é um dos setores mais importantes da economia do país, mas altos níveis de endogamia diminuíram a fertilidade da raça nas últimas décadas. O objetivo deste estudo foi investigar a presença e difusão de alelos letais e semi-letais causando morte de embriões, abortos, malformações fetais e doenças neonatais em bezerros da raça Holandesa. Usando o BeadChip Bovino 50K GeneSeek® Genomic Profiler™, genotipamos 383 bezerros (menos de um mês) de 27 fazendas localizadas na principal região leiteira do Uruguai. Os resultados mostraram uma alta prevalência de fazendas (85%) e bezerros portadores (21%), incluindo um ou mais dos seguintes alelos letais ou semi-letais: sindactilismo (4,18%), braquipespina (3,39%), haplótipo de deficiência de colesterol (2,61%), malformação vertebral complexa (2,09%), deficiência de adesão de leucócitos bovinos (1,04% s) e haplótipos de Holstein HH1 (4,44%), HH3 (3,13%), HH4 (1,04%) e HH5 (0,26%). A maioria desses alelos não havia sido reconhecida anteriormente no país. Concluímos que as mutações letais e semi-letais são comuns na raça Holstein no Uruguai. Mais estudos são necessários para determinar seu impacto na fertilidade do gado leiteiro.

Amniotic Band Syndrome with Placenta-Encephalocele Adhesion: An Uncommon Case.

Amniotic band syndrome is a rare condition that is associated with various malformations. Its etiology is controversial. The neuroimage shown here is of a newborn with placenta-encephalocele adhesion and other malformations that suggest amniotic band syndrome.

Xantoma tendinoso normolipémico múltiple en coexistencia con glaucoma terminal bilateral y sindactilia / Multiple normolipemic tendinous xanthoma in coexistence with bilateral terminal glaucoma and syndactyly

RESUMEN Los xantomas tendinosos están habitualmente asociados con hiperlipidemia, de ahí que son infrecuentes los xantomas tendinosos normolipémicos. La histopatología de este cuadro es característica por la presencia de células espumosas, hendiduras de colesterol y células de Touton. Presentamos el caso de un paciente varón de 22 años portador de xantomas tendinosos normolipémicos, en coexistencia con glaucoma terminal bilateral y sindactilia donde la histología y la inmunohistoquímica fueron de gran utilidad para el diagnóstico definitivo.

ABSTRACT Tendinous xanthomas are usually associated with hyperlipidemia, normolipemic tendinous xanthomas are uncommon. The histopathology of this condition is characterized by the presence of foam cells, cholesterol clefts, and Touton cells. We present a 22-year-old male patient with normolipemic tendon xanthomas, coexisting with bilateral terminal glaucoma and syndactyly, where histology and immunohistochemistry were very useful to reach the definitive diagnosis.

A case of polymelia associated with syndactyly in Didelphis aurita (Wied-Neuwied, 1826) / Relato de caso de polimelia associada a sindactilia em Didelphis aurita (Wied-Neuwied, 1826)

Abstract In January 2018, a young male of Didelphis aurita (Wied-Neuwied, 1826), the Brazilian common opossum, was admitted for veterinary evaluation at the Recovery Clinic of Wild Animals of Estácio de Sá University, CRAS, in Rio de Janeiro, Brazil, due to the presence of a partially duplicated right hind limb. After x-ray evaluation, polymelia associated with syndactyly was diagnosed. The images revealed the following alterations on the right limb: single femur with increased diameter, two tibiae, two fibulae and absence of hallux. The observed malformations were restricted to the hind right limb, which remains functional. This is the first report of such anomalies in an individual of Didelphis aurita.

Resumo Em janeiro de 2018, um macho jovem de Didelphis aurita (Wied-Neuwied, 1826), o gambá-de-orelha-preta, foi recebido para atendimento veterinário na Clínica de Recuperação de Animais Silvestres (CRAS) da Universidade Estácio de Sá, no Rio de Janeiro, por ser portador de membro posterior direito parcialmente duplicado. Após exame radiográfico, constatou-se a ocorrência de polimelia associada a sindactilia. As imagens radiográficas revelaram as seguintes alterações no membro posterior direito: um fêmur com diâmetro aumentado, duas tíbias, duas fíbulas e ausência de hálux. As malformações observadas restringiram-se apenas ao membro posterior direito, o qual mantém sua funcionalidade. Essas alterações nunca antes foram descritas na espécie Didelphis aurita.

Amniotic band syndrome with double encephalocele: A case report.

BACKGROUND: Amniotic band syndrome (ABS) is a rare condition of controversial etiology that is associated with varying degrees of anomalies. This study reports a case of a newborn with ABS associated with double encephalocele in the frontal region. CASE DESCRIPTION: A 29-year-old primiparous woman with no history of prenatal infection or consanguineous marriage had a cesarean section at gestational week 38, giving birth to a newborn who was well but had limb anomalies (constriction rings, amputations, and syndactyly) and craniofacial anomalies, mainly double frontal encephalocele. The patient underwent surgical repair and subsequent placement of a ventriculoperitoneal shunt. CONCLUSION: Studies clarifying this uncommon association with double encephalocele are limited. ABS associated with double encephalocele is rare and even more complex when associated with other anomalies. Thus, the conditions in such children are severe and require multidisciplinary monitoring.

A case of polymelia associated with syndactyly in Didelphis aurita (Wied-Neuwied, 1826) / Relato de caso de polimelia associada a sindactilia em Didelphis aurita (Wied-Neuwied, 1826)

In January 2018, a young male of Didelphis aurita (Wied-Neuwied, 1826), the Brazilian common opossum, was admitted for veterinary evaluation at the Recovery Clinic of Wild Animals of Estácio de Sá University, CRAS, in Rio de Janeiro, Brazil, due to the presence of a partially duplicated right hind limb. After x-ray evaluation, polymelia associated with syndactyly was diagnosed. The images revealed the following alterations on the right limb: single femur with increased diameter, two tibiae, two fibulae and absence of hallux. The observed malformations were restricted to the hind right limb, which remains functional. This is the first report of such anomalies in an individual of Didelphis aurita.(AU)

Em janeiro de 2018, um macho jovem de Didelphis aurita (Wied-Neuwied, 1826), o gambá-de-orelha-preta, foi recebido para atendimento veterinário na Clínica de Recuperação de Animais Silvestres (CRAS) da Universidade Estácio de Sá, no Rio de Janeiro, por ser portador de membro posterior direito parcialmente duplicado. Após exame radiográfico, constatou-se a ocorrência de polimelia associada a sindactilia. As imagens radiográficas revelaram as seguintes alterações no membro posterior direito: um fêmur com diâmetro aumentado, duas tíbias, duas fíbulas e ausência de hálux. As malformações observadas restringiram-se apenas ao membro posterior direito, o qual mantém sua funcionalidade. Essas alterações nunca antes foram descritas na espécie Didelphis aurita.(AU)

Síndrome de Apert. Reporte de caso / Apert syndrome. Case report

RESUMEN Fundamento: El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser hereditaria, secundaria a mutaciones esporádicas del gen FGFR2 y otros genes. Debido a los programas de pesquisaje genético el diagnóstico prenatal de este síndrome posibilita el asesoramiento genético y la asistencia médica multidisciplinaria. Objetivo: Ilustrar la importancia del diagnóstico prenatal del síndrome de Apert como elemento esencial para la atención multidisciplinaria posnatal del futuro niño. Reporte de caso: Se presenta un neonato de sexo masculino, nacido a las 39 semanas de gestación por parto eutócico, con signos de craneosinostosis y sindactilia en las manos y los pies por lo que se le realizó el diagnóstico posnatal de síndrome de Apert. Conclusiones: Los pacientes con el síndrome de Apert deben ser diagnosticados oportunamente durante la pesquisa prenatal, considerando el conjunto de sus signos y alteraciones y no como anomalías aisladas, como puede ocurrir de realizarse el diagnóstico en el período posnatal. De efectuarse el diagnóstico prenatal se lograría el tratamiento de forma multidisciplinaria y se podría garantizar al paciente una calidad de vida superior.

ABSTRACT Background: Apert syndrome consists of a genetic disease with craniofacial anomaly called acrocephalosyndactyly; it produces malformations in the skull such as craniosynostoses, in addition to alterations in the face, hands and feet, it can be inherited, secondary to sporadic mutations of the FGFR2 gene and some other genes. Due to genetic screening programs, the prenatal diagnosis of this syndrome enables genetic counseling and multidisciplinary medical assistance. Objective: To illustrate the importance of prenatal diagnosis of Apert syndrome as an essential element for the postnatal multidisciplinary care of the future child. Case report: A male neonate, born at 39 weeks of gestation by eutocic delivery, with signs of craniosynostoses and syndactyly on the hands and feet, so he was made the postnatal diagnosis of Apert syndrome. Conclusions: Patients with Apert syndrome should be diagnosed appropriately in time during prenatal screening, considering all their signs and alterations and not as isolated abnormalities, as may occur if the diagnosis is made in the postnatal period. If the prenatal diagnosis was made, the treatment would be achieved in a multidisciplinary way and a better quality of life could be guaranteed to the patient.

Síndrome de Apert. Reporte de caso / Apert syndrome. Case report

RESUMEN Fundamento: El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser hereditaria, secundaria a mutaciones esporádicas del gen FGFR2 y otros genes. Debido a los programas de pesquisaje genético el diagnóstico prenatal de este síndrome posibilita el asesoramiento genético y la asistencia médica multidisciplinaria. Objetivo: Ilustrar la importancia del diagnóstico prenatal del síndrome de Apert como elemento esencial para la atención multidisciplinaria posnatal del futuro niño. Reporte de caso: Se presenta un neonato de sexo masculino, nacido a las 39 semanas de gestación por parto eutócico, con signos de craneosinostosis y sindactilia en las manos y los pies por lo que se le realizó el diagnóstico posnatal de síndrome de Apert. Conclusiones: Los pacientes con el síndrome de Apert deben ser diagnosticados oportunamente durante la pesquisa prenatal, considerando el conjunto de sus signos y alteraciones y no como anomalías aisladas, como puede ocurrir de realizarse el diagnóstico en el período posnatal. De efectuarse el diagnóstico prenatal se lograría el tratamiento de forma multidisciplinaria y se podría garantizar al paciente una calidad de vida superior.

ABSTRACT Background: Apert syndrome consists of a genetic disease with craniofacial anomaly called acrocephalosyndactyly; it produces malformations in the skull such as craniosynostoses, in addition to alterations in the face, hands and feet, it can be inherited, secondary to sporadic mutations of the FGFR2 gene and some other genes. Due to genetic screening programs, the prenatal diagnosis of this syndrome enables genetic counseling and multidisciplinary medical assistance. Objective: To illustrate the importance of prenatal diagnosis of Apert syndrome as an essential element for the postnatal multidisciplinary care of the future child. Case report: A male neonate, born at 39 weeks of gestation by eutocic delivery, with signs of craniosynostoses and syndactyly on the hands and feet, so he was made the postnatal diagnosis of Apert syndrome. Conclusions: Patients with Apert syndrome should be diagnosed appropriately in time during prenatal screening, considering all their signs and alterations and not as isolated abnormalities, as may occur if the diagnosis is made in the postnatal period. If the prenatal diagnosis was made, the treatment would be achieved in a multidisciplinary way and a better quality of life could be guaranteed to the patient.

Screening genetic diseases prevalence in Braunvieh cattle.

Heritable abnormalities can cause a reduction in productive performance, structural defects, or death of the animal. There are reports of hereditary abnormalities in Braunvieh cattle from several countries, but no evidence was found on their existence in Mexico. In this study, 28 genes associated with hereditary diseases were screened with the GGP-LD 30K array (GeneSeek®) in 300 Mexican registered Braunvieh animals. Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, syndactyly, Weaver syndrome, crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, Marfan syndrome, and weak calf syndrome. The allelic frequency values were low for all the analysed loci (from 0.0015 to 0.0110), with exception of syndactyly (0.4145). Although homozygous animals for these genetic conditions were detected, no physical or physiological abnormalities associated with the clinical form of the diseases were observed in the sampled animals. Markers associated with a crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, Marfan syndrome, and weak calf syndrome were absent. The studied Mexican Braunvieh population does not present clinical or subclinical effects for ten diseases in homozygous animals. However, since the assessed animals are considered as breeding stock, the monitoring of carrier animals might be periodically necessary.