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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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INTRODUCTION: Haemophilia B (HB) is associated with pathogenic variants in F9. Hemizygous deletions encompassing the entire F9 and proximate genes may express extra-haematological clinical phenotypes. AIM: To analyse the genotype/phenotype correlations in two unrelated boys with severe early childhood obesity (SCO), global developmental delay (GDD) and similar bleeding phenotype associated with comparable Xq27 deletions spanning the entire F9 and proximate genes, and characterise the pathogenic events estimating the most likely mutational mechanism involved. METHODS: Entire F9-deletions were detected in three hemizygous unrelated probands with HB: two cases, C#1/C#2, presented SCO and GDD and a control patient (Co), who only had severe bleeding symptoms. Dense SNP-array and case-specific STS walking scan allowed characterisation of the deletion breakpoints. Extensive use of bioinformatics, statistics and clinical databases allowed the investigation of genotype-phenotype associations. RESULTS: Patients C#1/C#2 and Co resulted in a complete F9 and additional gene deletions of variable extensions on Xq26.3-Xq27.2 (C#1/C#2/Co: 4.3Mb/3.9Mb/160Kb). C#1/C#2 common deleted gene SOX3 is directly associated with SCO, GDD and pituitary hypothyroidism (PH) whilst C#2 extra-deleted gene MAGEC2 indirectly relates to anal atresia (AA). Breakpoint analysis revealed the involvement of the mechanisms of Alu/Alu recombination for the first time in HB and non-homologous or alternative end-joining. CONCLUSION: Our results represent the first report of unrelated patients with HB, SCO and GDD. This study and the literature update expand the spectrum of clinical findings and molecular insights observed in patients with HB caused by complete F9 and nearby SOX3 and MAGEC2 gene deletions, which may configure a contiguous gene syndrome.

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OBJECTIVE: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex. STUDY DESIGN: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal and rectovestibular fistulas were classified as mild CARMs, all others as severe. If a patient was diagnosed with CARM within 48 hours after birth, this was considered an early diagnosis, all others as late. RESULTS: Seventy-five (58%) girls and 54 (42%) boys were diagnosed with different forms of CARM. More patients had mild rather than severe forms of CARM (67% and 33%, respectively, P <.001). We found that 89% of girls had a mild form of CARM, whereas 65% of boys had severe forms (P <.001). All severe forms were diagnosed early, whereas 54% mild forms were diagnosed early and 46% were diagnosed late. CONCLUSIONS: Girls more often have mild forms of CARM, whereas boys more often have severe forms. Overall, the distribution across the sexes is equal. Because chronic constipation can be the only symptom of mild CARMs, it often requires more time to diagnose than severe forms. Many women are, therefore, diagnosed with CARMs at an older age, or they may go undiagnosed altogether. Subsequently, these women have a greater risk of full rupture during vaginal delivery.

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A atresia anal é uma anormalidade congênita de rara ocorrência em cães e gatos. A cirurgia corretiva é considerada de baixa complexidade porém o prognóstico, desfavorável. Uma cadela, SRD, de 2 meses de idade e 1,8 quilos foi atendida no Hospital Veterinário da Universidade Federal do Tocantins, com queixa de distensão abdominal e eliminação de fezes pela vagina. Após exames físico e radiográfico foi diagnosticada com Atresia Anal tipo II e conduzida à intervenção cirúrgica. Após duas intervenções cirúrgicas e a adoção de medidas particulares, incluindo condutas na divulsão tecidual, escolha do fio cirúrgico e padrão de suturas, pode-se enfim garantir um pós-operatório com adequada cicatrização. Concluiu-se que o sucesso da cirurgia de correção de Atresia Anal é também dependente da adoção de alguns atos cirúrgicos práticos específicos, de sobremaneira relevância.(AU)

Anal atresia is arare congenital abnormality in dogs and cats. Corrective surgery is considered of low complexity but the prognosis is unfavorable. A mixed breed bitch, 2 months old and 1.8 kilos, was attended at the Veterinary Hospital of the Federal University of Tocantins, with clinical signs of abdominal distension and feces elimination by the vagina. After physical and radiographic examinations it was diagnosed with anal atresia type 11 and it was led to surgical intervention. After two surgical interventions and the adoption of particular measures, including actions in the tissue divulsion, choice of surgical thread and suture pattern, and it could be finally ensured a postoperative period with adeguate healing. It was concluded that the success of anal atresia correction surgery is also dependent on the adoption of some specific and particularly relevant surgical procedures.(AU)

Atresia anal es una anormalidad congénita de rara ocurrencia en perros y gatos. La quirurgia de reparación se considera baja complejidad, pero el pronóstico desfavorable. Una perra sin raza definida, 2 meses de edad y un kilo ochocientos gramos fue atendida en el Hospital Veterinário de la Universidade Federal do Tocantins, con distención abdominal y eliminación de las heces por la vagina. Después de la exploración física y radiológica fue diagnosticado Atresia Anal Tipo II y el animal fue conducido a la quirúrgia. Después de los procedimientos quirúrgicos y la adopción de medidas propias que incluye procedimientos en la divulsión tecidual selección, de hilo quirúrgico y patrones de suturas, fue possible asegurar un posoperatorio con correcta cicatrización. Se concluyó que el éxito de la cirugía de reparación de atresia anal también depende de la adopción de algunos procedimientos quirúrgicos prácticos específicos de gran relevancia.(AU)

Assuntos

RESUMO

A atresia anal é uma anormalidade congênita de rara ocorrência em cães e gatos. A cirurgia corretiva é considerada de baixa complexidade porém o prognóstico, desfavorável. Uma cadela, SRD, de 2 meses de idade e 1,8 quilos foi atendida no Hospital Veterinário da Universidade Federal do Tocantins, com queixa de distensão abdominal e eliminação de fezes pela vagina. Após exames físico e radiográfico foi diagnosticada com Atresia Anal tipo II e conduzida à intervenção cirúrgica. Após duas intervenções cirúrgicas e a adoção de medidas particulares, incluindo condutas na divulsão tecidual, escolha do fio cirúrgico e padrão de suturas, pode-se enfim garantir um pós-operatório com adequada cicatrização. Concluiu-se que o sucesso da cirurgia de correção de Atresia Anal é também dependente da adoção de alguns atos cirúrgicos práticos específicos, de sobremaneira relevância.

Anal atresia is arare congenital abnormality in dogs and cats. Corrective surgery is considered of low complexity but the prognosis is unfavorable. A mixed breed bitch, 2 months old and 1.8 kilos, was attended at the Veterinary Hospital of the Federal University of Tocantins, with clinical signs of abdominal distension and feces elimination by the vagina. After physical and radiographic examinations it was diagnosed with anal atresia type 11 and it was led to surgical intervention. After two surgical interventions and the adoption of particular measures, including actions in the tissue divulsion, choice of surgical thread and suture pattern, and it could be finally ensured a postoperative period with adeguate healing. It was concluded that the success of anal atresia correction surgery is also dependent on the adoption of some specific and particularly relevant surgical procedures.

Atresia anal es una anormalidad congénita de rara ocurrencia en perros y gatos. La quirurgia de reparación se considera baja complejidad, pero el pronóstico desfavorable. Una perra sin raza definida, 2 meses de edad y un kilo ochocientos gramos fue atendida en el Hospital Veterinário de la Universidade Federal do Tocantins, con distención abdominal y eliminación de las heces por la vagina. Después de la exploración física y radiológica fue diagnosticado Atresia Anal Tipo II y el animal fue conducido a la quirúrgia. Después de los procedimientos quirúrgicos y la adopción de medidas propias que incluye procedimientos en la divulsión tecidual selección, de hilo quirúrgico y patrones de suturas, fue possible asegurar un posoperatorio con correcta cicatrización. Se concluyó que el éxito de la cirugía de reparación de atresia anal también depende de la adopción de algunos procedimientos quirúrgicos prácticos específicos de gran relevancia.

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This report describes an anal atresia, anatomical urethra alteration (slightly caudal to the udder), thickened joints, and changes in the pelvis in a newborn Holstein cow. Visualization of the final portion of the rectum was not possible by perineal access and laparotomy through the right flank was performed in order for abdominal exploration and colostomy attempt. During the surgical procedure visceral rupture and malformations incompatible with life were observed, so surgeons opted for euthanasia and necropsy. Alterations were confirmed in the genitourinary and gastrointestinal tract. The non-formation of the anus caused dilation of the distal portion of the rectum with fecal content retention, which was drained to the body of the uterus, with the presence of meconium. This amount of anatomical and clinical changes were diagnosed as congenital multiple arthrogryposis.(AU)

Este relato de caso descreve atresia anal, alteração anatômica da uretra (inserida caudalmente ao úbere), articulações espessadas e alterações na pelve em um neonato bovino da raça Holandesa. A visualização da porção final do reto não foi possível pelo acesso perineal, e laparotomia através do flanco direito foi feita para exploração abdominal e realização da colostomia. Durante o procedimento cirúrgico, foram observadas ruptura visceral e malformações incompatíveis com a vida, então os cirurgiões optaram pela eutanásia e necropsia. Alterações foram confirmadas nos tratos geniturinário e gastrointestinal. A não formação do ânus causou dilatação da porção distal do reto com retenção fecal, desviando ao corpo do útero, o qual possibilitou a entrada de mecônio nesse compartimento, além de outras alterações devido à ingestão e alteração no trânsito gastrointestinal. Essa quantidade de alterações anatômicas e clínicas foi diagnosticada como artrogripose congênita múltipla.(AU)

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RESUMO

This report describes an anal atresia, anatomical urethra alteration (slightly caudal to the udder), thickened joints, and changes in the pelvis in a newborn Holstein cow. Visualization of the final portion of the rectum was not possible by perineal access and laparotomy through the right flank was performed in order for abdominal exploration and colostomy attempt. During the surgical procedure visceral rupture and malformations incompatible with life were observed, so surgeons opted for euthanasia and necropsy. Alterations were confirmed in the genitourinary and gastrointestinal tract. The non-formation of the anus caused dilation of the distal portion of the rectum with fecal content retention, which was drained to the body of the uterus, with the presence of meconium. This amount of anatomical and clinical changes were diagnosed as congenital multiple arthrogryposis.(AU)

Este relato de caso descreve atresia anal, alteração anatômica da uretra (inserida caudalmente ao úbere), articulações espessadas e alterações na pelve em um neonato bovino da raça Holandesa. A visualização da porção final do reto não foi possível pelo acesso perineal, e laparotomia através do flanco direito foi feita para exploração abdominal e realização da colostomia. Durante o procedimento cirúrgico, foram observadas ruptura visceral e malformações incompatíveis com a vida, então os cirurgiões optaram pela eutanásia e necropsia. Alterações foram confirmadas nos tratos geniturinário e gastrointestinal. A não formação do ânus causou dilatação da porção distal do reto com retenção fecal, desviando ao corpo do útero, o qual possibilitou a entrada de mecônio nesse compartimento, além de outras alterações devido à ingestão e alteração no trânsito gastrointestinal. Essa quantidade de alterações anatômicas e clínicas foi diagnosticada como artrogripose congênita múltipla.(AU)

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OBJECTIVE: To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. STUDY DESIGN: We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. RESULTS: Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. CONCLUSIONS: The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies.

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El síndrome de Cassamasima se caracteriza por una triada que consiste en alteraciones costo vertebrales, atresia anal y alteraciones genitourinarias, siendo un síndrome de presentación rara y cuya supervivencia estará determinada por la gravedad de las alteraciones. Presentamos el caso de un niño con características típicas de este síndrome.

Cassamasima syndrome is characterized by a triad consisting costo vertebral alterations, anal atresia, and genito urinary disorders, being rare and whose survival is determined by the severity of the disturbances. We report the case of a child with typical features of this syndrome.

RESUMO

Os defeitos congênitos têm se tornado mais frequentes na rotina clínica de grandes animais. A atresia anal é um defeito congênito já relatado em diversas espécies, e normalmente associado a outras malformações, como fístula uretrorretal e pseudo-hermafroditismo, fístula retovaginal, bolsa escrotal acessória, difalia, agenesia renal, fusão renal e ureteral e malformações esqueléticas. Objetivou-se relatar o caso de um bezerro da raça Nelore apresentando múltiplos defeitos congênitos. Algumas alterações observadas no presente caso diferiram das citadas na literatura, sendo a principal a falha na formação de estruturas na linha média ventral do animal. O exame radiográfico foi de grande importância para a confirmação do diagnóstico, e principalmente para a avaliação do comprometimento de outras estruturas. Devido à presença de múltiplas malformações, o prognóstico era desfavorável quanto à vida e função do animal, sendo indicada a eutanásia, razão pela qual se conclui que os casos de atresia anal devem ser investigados mais profundamente, na busca por defeitos concomitantes que possam inviabilizar a vida e/ou produtividade do animal.(AU)

Congenital malformations have become more frequent in large animal clinics. Anal atresia is a congenital malformation that has been previously reported in several species and it is normally associated with other malformations, such as urethrorectal fistula, pseudohermaphoroditism, rectovaginal fistula, accessory scrotum, diphallia, renal agenesis, renal and ureteral fusion and skeletal malformations as well. This case report describes the multiple congenital malformations of a Nellore calf. Some of the malformations observed in this case were different from those reported in the literature, especially the failure in the formation of ventral midline structures of the animal. Radiographic examination was of great importance for the diagnosis and especially to assess the involvement of other structures. Due to multiple malformations and the poor prognosis, the calf was euthanized and it was concluded that cases of anal atresia must be further investigated for associated problems that could risk life or productivity of the animal.(AU)

Assuntos

RESUMO

Os defeitos congênitos têm se tornado mais frequentes na rotina clínica de grandes animais. A atresia anal é um defeito congênito já relatado em diversas espécies, e normalmente associado a outras malformações, como fístula uretrorretal e pseudo-hermafroditismo, fístula retovaginal, bolsa escrotal acessória, difalia, agenesia renal, fusão renal e ureteral e malformações esqueléticas. Objetivou-se relatar o caso de um bezerro da raça Nelore apresentando múltiplos defeitos congênitos. Algumas alterações observadas no presente caso diferiram das citadas na literatura, sendo a principal a falha na formação de estruturas na linha média ventral do animal. O exame radiográfico foi de grande importância para a confirmação do diagnóstico, e principalmente para a avaliação do comprometimento de outras estruturas. Devido à presença de múltiplas malformações, o prognóstico era desfavorável quanto à vida e função do animal, sendo indicada a eutanásia, razão pela qual se conclui que os casos de atresia anal devem ser investigados mais profundamente, na busca por defeitos concomitantes que possam inviabilizar a vida e/ou produtividade do animal.

Congenital malformations have become more frequent in large animal clinics. Anal atresia is a congenital malformation that has been previously reported in several species and it is normally associated with other malformations, such as urethrorectal fistula, pseudohermaphoroditism, rectovaginal fistula, accessory scrotum, diphallia, renal agenesis, renal and ureteral fusion and skeletal malformations as well. This case report describes the multiple congenital malformations of a Nellore calf. Some of the malformations observed in this case were different from those reported in the literature, especially the failure in the formation of ventral midline structures of the animal. Radiographic examination was of great importance for the diagnosis and especially to assess the involvement of other structures. Due to multiple malformations and the poor prognosis, the calf was euthanized and it was concluded that cases of anal atresia must be further investigated for associated problems that could risk life or productivity of the animal.

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Neste trabalho, é descrito o caso de um bezerro mestiço recém-nascido que apresentava atresia anal tipo 2, fístula uretrorretal congênita, bolsa escrotal bífida e pseudo-hermafroditismo masculino. O principal sinal clínico era a eliminação de fezes por meio do óstio prepucial, uma apresentação incomum em casos de fístula uretrorretal em animais machos. Apesar de o quadro de atresia anal ser relativamente comum nessa espécie, os outros defeitos congênitos encontrados são pouco frequentes.

In this study, the case of a newborn calf, which presented type 2 anal atresia, congenital urethrorectal fistula, bifid scrotum and male pseudohermafroditism is described. The main clinical sign was the elimination of feces by the prepucial ostium, an unusual finding in cases of urethrorectal fistula in male animals. Although anal atresia is relatively common in bovines, the other congenital defects found in this case are uncommon.

RESUMO

In this study, the case of a newborn calf, which presented type 2 anal atresia, congenital urethrorectal fistula, bifid scrotum and male pseudohermafroditism is described. The main clinical sign was the elimination of feces by the prepucial ostium, an unusual finding in cases of urethrorectal fistula in male animals. Although anal atresia is relatively common in bovines, the other congenital defects found in this case are uncommon.

Neste trabalho, é descrito o caso de um bezerro mestiço recém-nascido que apresentava atresia anal tipo 2, fístula uretrorretal congênita, bolsa escrotal bífida e pseudo-hermafroditismo masculino. O principal sinal clínico era a eliminação de fezes por meio do óstio prepucial, uma apresentação incomum em casos de fístula uretrorretal em animais machos. Apesar de o quadro de atresia anal ser relativamente comum nessa espécie, os outros defeitos congênitos encontrados são pouco frequentes.

RESUMO

In this study, the case of a newborn calf, which presented type 2 anal atresia, congenital urethrorectal fistula, bifid scrotum and male pseudohermafroditism is described. The main clinical sign was the elimination of feces by the prepucial ostium, an unusual finding in cases of urethrorectal fistula in male animals. Although anal atresia is relatively common in bovines, the other congenital defects found in this case are uncommon.

Neste trabalho, é descrito o caso de um bezerro mestiço recém-nascido que apresentava atresia anal tipo 2, fístula uretrorretal congênita, bolsa escrotal bífida e pseudo-hermafroditismo masculino. O principal sinal clínico era a eliminação de fezes por meio do óstio prepucial, uma apresentação incomum em casos de fístula uretrorretal em animais machos. Apesar de o quadro de atresia anal ser relativamente comum nessa espécie, os outros defeitos congênitos encontrados são pouco frequentes.

RESUMO

In this study, the case of a newborn calf, which presented type 2 anal atresia, congenital urethrorectal fistula, bifid scrotum and male pseudohermafroditism is described. The main clinical sign was the elimination of feces by the prepucial ostium, an unusual finding in cases of urethrorectal fistula in male animals. Although anal atresia is relatively common in bovines, the other congenital defects found in this case are uncommon.

Neste trabalho, é descrito o caso de um bezerro mestiço recém-nascido que apresentava atresia anal tipo 2, fístula uretrorretal congênita, bolsa escrotal bífida e pseudo-hermafroditismo masculino. O principal sinal clínico era a eliminação de fezes por meio do óstio prepucial, uma apresentação incomum em casos de fístula uretrorretal em animais machos. Apesar de o quadro de atresia anal ser relativamente comum nessa espécie, os outros defeitos congênitos encontrados são pouco frequentes.

RESUMO

O presente trabalho teve como objetivo descrever o caso de um felino, que desde o nascimento apresentou atresia anal, ausência de cauda e malformação dos membros pélvicos. Ao exame radiográfico, pôde-se observar presença de agenesia da sétima vértebra lombar, sacro e vértebras coccígeas, espinha bífida, meningocele, hiperflexão dos joelhos e desvio valgo dos tarsos, diagnosticando-se agenesia sacrococcígea associada à atresia anal.

This paper has the objective to report a case of a cat that since birth had anal atresia, absence of tail and malformation of the pelvic member. The radiographic examination revealed agenesis of the seventh lumbar vertebra, sacral and coccygeal vertebrae, spina bifida, meningocele, hyperflexion of the knees and tarsal valgus deviation, diagnosing sacrococcygeal agenesis associated with anal atresia.

RESUMO

This paper has the objective to report a case of a cat that since birth had anal atresia, absence of tail and malformation of the pelvic member. The radiographic examination revealed agenesis of the seventh lumbar vertebra, sacral and coccygeal vertebrae, spina bifida, meningocele, hyperflexion of the knees and tarsal valgus deviation, diagnosing sacrococcygeal agenesis associated with anal atresia.

O presente trabalho teve como objetivo descrever o caso de um felino, que desde o nascimento apresentou atresia anal, ausência de cauda e malformação dos membros pélvicos. Ao exame radiográfico, pôde-se observar presença de agenesia da sétima vértebra lombar, sacro e vértebras coccígeas, espinha bífida, meningocele, hiperflexão dos joelhos e desvio valgo dos tarsos, diagnosticando-se agenesia sacrococcígea associada à atresia anal.

RESUMO

This paper has the objective to report a case of a cat that since birth had anal atresia, absence of tail and malformation of the pelvic member. The radiographic examination revealed agenesis of the seventh lumbar vertebra, sacral and coccygeal vertebrae, spina bifida, meningocele, hyperflexion of the knees and tarsal valgus deviation, diagnosing sacrococcygeal agenesis associated with anal atresia.

O presente trabalho teve como objetivo descrever o caso de um felino, que desde o nascimento apresentou atresia anal, ausência de cauda e malformação dos membros pélvicos. Ao exame radiográfico, pôde-se observar presença de agenesia da sétima vértebra lombar, sacro e vértebras coccígeas, espinha bífida, meningocele, hiperflexão dos joelhos e desvio valgo dos tarsos, diagnosticando-se agenesia sacrococcígea associada à atresia anal.