Monodactyly in a patient with CHARGE syndrome: An additional case report.

CHARGE syndrome is a rare autosomal dominant syndrome characterized by multiple congenital anomalies including coloboma, heart defects, ear anomalies, and developmental delay, caused by pathogenic variants in the CHD7 gene. The discovery of the molecular basis of this syndrome increased the number of cases reported and expanded the phenotype and clinical variability. Limb anomalies are occasional clinical findings in this syndrome, present in about 30% of reported cases. The occurrence of limb anomalies in this syndrome suggests that it should be considered as part of the phenotypic spectrum. Here, we describe an individual with CHARGE syndrome presenting unilateral monodactyly.

Deformidad congénita en dedos de manos y pies asociados a camptodactilia. Presentación de una familia afectada / Congenital deformity in fingers and toes associated with camptodactyly. Presentation of an affected family

Las deformidades de los dedos son alteraciones frecuentes y en ocasiones se asocian a camptodactilia. Estas pueden ser congénitas o adquiridas, estar asociadas a teratógenos durante la etapa prenatal o determinado por un gen heredado que provoque este defecto y manifestarse de forma aislada o en varios miembros de una misma familia, segregándose con un patrón de herencia autosómico dominante. Se presenta una familia con tres miembros afectados a partir de una progenitora con el defecto en los dedos de las manos y los pies, que tiene dos descendientes con las mismas deformidades, sin otras alteraciones. Se considera un defecto congénito con implicación estética, en la movilidad de todos los dedos en alguna medida. Resulta necesario el seguimiento multidisciplinario, en conjunto ortopédicos, psicólogos y genetista clínico, para brindar un adecuado asesoramiento genético a la familia, informar el posible tratamiento quirúrgico y la rehabilitación oportuna para elevar la calidad de vida de estos afectados.

Finger deformities are frequent alterations and are sometimes associated with camptodactyly. These can be congenital or acquired, and may be associated with teratogens during prenatal stage or determined by an inherited gene that causes this defect, as well as appear in isolation or in several members of the same family, segregating with an autosomal dominant inheritance pattern. We present a family with three affected members from a mother with a defect in fingers and toes, who has two descendants with the same deformities, without other alterations. It is considered a congenital defect with aesthetic implications, and repercussions, to some extent, on the mobility of all fingers. Multidisciplinary follow-up is necessary, together with orthopedics, psychologists, and clinical geneticists, to provide adequate genetic counseling to the family, inform possible surgical treatment, and timely rehabilitation to improve the quality of life of those affected subjects.

Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature / Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso.

Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura / Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

Does the Presence of Clubfoot delay the Onset of Walking?

Objective Congenital clubfoot (PTC) is a congenital orthopedic condition often requiring intensive treatment; little is known about the impact of such treatment on motor development. The present study assessed whether gait development is later in patients with PTC treated with the Ponseti method in comparison to a control group and analyzed possible related factors. Methods Patients born at term, < 6 months old, not submitted to previous treatment and with a minimum follow-up period of 24 months were included. The control group consisted of patients with no musculoskeletal disorders seen during the present study. Results The study group consisted of 97 patients, whereas the control group had 100 subjects. The mean age at gait start was 14.7 ± 3.2 months in the study group and 12.6 ± 1.5 months in the control group ( p < 0.05). Factors related to late gait included age at beginning of treatment > 3 weeks, number of plaster cast changes > 7, recurrence and nonperformance of Achilles tenotomy. Age at beginning of treatment > 3 weeks was related to a greater number of plaster cast changes. Gender and laterality were not related to late gait development. Conclusion Congenital clubfoot patients treated with the Ponseti method show independent walking approximately 2 months later than the control group. Delayed treatment, higher number of plaster cast changes, recurrence and nonperformance of Achilles tenotomy were related to late gait.

Does the Presence of Clubfoot delay the Onset of Walking? / A presença do pé torto congênito atrasa o início da marcha?

Abstract Objective Congenital clubfoot (PTC) is a congenital orthopedic condition often requiring intensive treatment; little is known about the impact of such treatment on motor development. The present study assessed whether gait development is later in patients with PTC treated with the Ponseti method in comparison to a control group and analyzed possible related factors. Methods Patients born at term, < 6 months old, not submitted to previous treatment and with a minimum follow-up period of 24 months were included. The control group consisted of patients with no musculoskeletal disorders seen during the present study. Results The study group consisted of 97 patients, whereas the control group had 100 subjects. The mean age at gait start was 14.7 ± 3.2 months in the study group and 12.6 ± 1.5 months in the control group (p< 0.05). Factors related to late gait included age at beginning of treatment > 3 weeks, number of plaster cast changes > 7, recurrence and nonperformance of Achilles tenotomy. Age at beginning of treatment > 3 weeks was related to a greater number of plaster cast changes. Gender and laterality were not related to late gait development. Conclusion Congenital clubfoot patients treated with the Ponseti method show independent walking approximately 2 months later than the control group. Delayed treatment, higher number of plaster cast changes, recurrence and nonperformance of Achilles tenotomy were related to late gait.

Resumo Objetivo O pé torto congênito (PTC) é uma das alterações ortopédicas congênitas que mais frequentemente necessita tratamento intensivo, e pouco se sabe o impacto desse tratamento no desenvolvimento motor. O presente estudo buscou avaliar se pacientes portadores de PTC tratados pelo método de Ponseti desenvolvem a marcha mais tardiamente comparado a um grupo controle e analisar possíveis fatores relacionados. Métodos Incluídos pacientes nascidos a termo, com < 6 meses de idade, sem tratamento prévio e com seguimento mínimo de 24 meses. O grupo controle foi de pacientes sem alterações musculoesqueléticas, atendidos no mesmo período da realização do presente estudo. Resultados Um total de 97 pacientes formaram o grupo de estudo e 100 o grupo controle. A média de idade no início da marcha no grupo de estudo foi de 14,7 ± 3,2 meses, e 12,6 ± 1,5 meses (p< 0,05) no grupo controle. Fatores relacionados à marcha tardia foram: idade de início do tratamento > 3 semanas, número de trocas gessadas > 7, recidiva e não realização da tenotomia de Aquiles. Idade de início do tratamento > 3 semanas esteve relacionada a maior número de trocas de gessos. Gênero e lateralidade não tiveram relação com a marcha tardia. Conclusão Pacientes com PTC tratados com o método de Ponseti apresentam marcha independente aproximadamente 2 meses mais tarde do que o grupo controle. Início mais tardio do tratamento, maior número de trocas de gessos, recidiva e não realização da tenotomia de Aquiles foram relacionados com atraso da marcha.

Clinical monitoring of neonatal foal from pregnancy with placentitis / Acompanhamento clínico de potro neonato proveniente de gestação com placentite

Background: The equine placenta is the organ where gas and nutrients are exchanged between the mare and the fetus and, as such presents two main functions: protection and regulation of the fetal environment. Maternal or placental disorders can lead to fetal or neonatal impairment, fetal death, development of abnormalities, dystocia, or to the delivery of premature or dysmature foals. The aim of this work is to report the placental findings, the clinical evaluation and the therapeutic measures adopted during the clinical monitoring of a foal birth from a mare with placentitis.Case: The patient is a Thoroughbred mare, 18 years-old, from a farm in the south region of Brazil. The mare was submitted to colic surgery 90 days prior to delivery. The gestational length was 365 days and the mare did not present any symptoms of placentitis during pregnancy. At delivery both the amniotic fluid and the foal showed meconium staining, suggesting passage of intrauterine meconium. The time lapsed from birth to the observation of postural and behavioral reflexes was: eight min to the adoption of sternal recumbency; 35 min to begin sucking reflexes, and 110 min to stand. After the observation of the sucking reflexes, the foal received 250 mL of colostrum with a bottle. The foal weight at birth was 50 kg. Yellow/brownish stains covering on the allantoic surface to its full extent were identified...

A placenta é um órgão fundamental na relação materno-fetal e deve ser considerada como um reflexo das condições nutricionais, metabólicas, endócrinas e vasculares maternas, além de ser um indicativo da condição clínica e metabólica do neonato [11]. A placenta apresenta duas grandes funções: de proteção e de regulação do ambiente fetal, atuando como órgão de trocas respiratórias e de nutrientes entre a égua e o feto [28]. O impacto das desordens de origem materna ou placentária no ambiente intrauterino, geralmente resulta em comprometimento fetal ou neonatal decorrentes de um ou da combinação de três fatores: hipóxia, infecção e transtorno no desenvolvimento dentro do útero [5].O Comprometimento fetal pode resultar no nascimento de um potro prematuro ou dismaturo, sendo os efeitos do comprometimento neonatal dependentes da natureza, duração, severidade e estágio da gestação no qual ocorreu a condição de estresse [5].Em quadros de hipóxia ocorre uma redistribuição do débito cardíaco para manter os órgãos vitais (coração, cérebro e adrenais), com comprometimento de outros órgãos [28]. O feto equino apresenta um mecanismo de redução da demanda de oxigênio quando exposto a hipó- xia, diminuindo sua taxa de crescimento, podendo levar a um retardo no crescimento intrauterino [25]. Como resultado de uma isquemia intestinal em períodos de hipóxia, ocorre hiperperistaltismo transitório...

Clinical monitoring of neonatal foal from pregnancy with placentitis / Acompanhamento clínico de potro neonato proveniente de gestação com placentite

Background: The equine placenta is the organ where gas and nutrients are exchanged between the mare and the fetus and, as such presents two main functions: protection and regulation of the fetal environment. Maternal or placental disorders can lead to fetal or neonatal impairment, fetal death, development of abnormalities, dystocia, or to the delivery of premature or dysmature foals. The aim of this work is to report the placental findings, the clinical evaluation and the therapeutic measures adopted during the clinical monitoring of a foal birth from a mare with placentitis.Case: The patient is a Thoroughbred mare, 18 years-old, from a farm in the south region of Brazil. The mare was submitted to colic surgery 90 days prior to delivery. The gestational length was 365 days and the mare did not present any symptoms of placentitis during pregnancy. At delivery both the amniotic fluid and the foal showed meconium staining, suggesting passage of intrauterine meconium. The time lapsed from birth to the observation of postural and behavioral reflexes was: eight min to the adoption of sternal recumbency; 35 min to begin sucking reflexes, and 110 min to stand. After the observation of the sucking reflexes, the foal received 250 mL of colostrum with a bottle. The foal weight at birth was 50 kg. Yellow/brownish stains covering on the allantoic surface to its full extent were identified...(AU)

A placenta é um órgão fundamental na relação materno-fetal e deve ser considerada como um reflexo das condições nutricionais, metabólicas, endócrinas e vasculares maternas, além de ser um indicativo da condição clínica e metabólica do neonato [11]. A placenta apresenta duas grandes funções: de proteção e de regulação do ambiente fetal, atuando como órgão de trocas respiratórias e de nutrientes entre a égua e o feto [28]. O impacto das desordens de origem materna ou placentária no ambiente intrauterino, geralmente resulta em comprometimento fetal ou neonatal decorrentes de um ou da combinação de três fatores: hipóxia, infecção e transtorno no desenvolvimento dentro do útero [5].O Comprometimento fetal pode resultar no nascimento de um potro prematuro ou dismaturo, sendo os efeitos do comprometimento neonatal dependentes da natureza, duração, severidade e estágio da gestação no qual ocorreu a condição de estresse [5].Em quadros de hipóxia ocorre uma redistribuição do débito cardíaco para manter os órgãos vitais (coração, cérebro e adrenais), com comprometimento de outros órgãos [28]. O feto equino apresenta um mecanismo de redução da demanda de oxigênio quando exposto a hipó- xia, diminuindo sua taxa de crescimento, podendo levar a um retardo no crescimento intrauterino [25]. Como resultado de uma isquemia intestinal em períodos de hipóxia, ocorre hiperperistaltismo transitório...(AU)

Desvios angulares em potros puro sangue de corrida do nascimento aos 30 dias de vida: origem e incidência

Ninety eight Thoroughbred foals underwent physical (196 joint groups) and radiologic (196 carpi and other joints with clinical ALD) evaluation after birth in order to determine presence and origin of angular limb deformities (ALD). Thirty days later 57 foals were reevaluated. At the physical examination performed at age 1 to 5 days ALD were observed on 94 (48.0%) carpal joints, 12 (6.1%) forelimb fetlocks, 10 (5.1%) tarsal joints and 2 (1.0%) hindlimb fetlocks showing that ALD are a common finding in neonatal foals, specially Carpus valgus. From 196 evaluated carpal joints 52.0% had straight limbs, 28.1% slight valgus deformity and 19.9% moderate valgus. The geometric evaluation of the radiographs showed that 53.1% of carpal joints had angles =5º, 44.4% between > 5 and 10º and 2.5% > 10º. A reduction of ALD was observed at 30 days: 68.5% of the carpus were straight, 24.6% had slight deviation and 7.0% moderate deformities. At X-Ray evaluation 67.5% of the carpal joints had angles =5º, 31.6% between > 5 and 10º and 0.9% > 10º. The spontaneous improvement of the ALD was significant on the clinical and radiologic evaluation (p 0.05).

Noventa e oito potros Puro Sangue de Corrida (PSC) foram avaliados quanto à presença e à origem de desvios angulares (DA) logo após o nascimento. Aos trinta dias, 57 potros foram reavaliados. Na primeira avaliação clínica, observaram-se DA em 94 (48,0%) articulações rádio-carpo-metacarpianas (rcmc), 12 (6,1%) metacarpo-falangianas (mcf), 10 (5,1%) tíbio-tarso-metatarsianas (ttmt) e 2 (1,0%) metatarso-falangianas (mtf), mostrando que DA são comuns em potros recém-nascidos, especialmente na forma de Carpus valgus. Das 196 articulações rcmc examinadas, 52,0% não apresentaram DA, 28,1% tinham DA valgus discreto e 19,9% DA valgus moderado. Aos 30 dias - 114 articulações rcmc (57 potros) - observou-se uma redução clínica nos DA: 68,5% das articulações rcmc não apresentaram DA, 24,6% apresentaram DA discretos e 7,0% DA moderados. A avaliação geométrica das radiografias revelou que 53,1% das articulações rcmc apresentaram ângulos =5º, 44,4% de > 5 - 10º e 2,5% > 10º. Aos 30 dias após o nascimento, 67,5% das articulações rcmc tinham ângulos =5º, 31,6% de > 5 a 10º e 0,9% > 10º. A redução dos DA foi significativa na avaliação clínica e radiológica (p 0,05), indicando um processo de recuperação espontânea.

Desvios angulares em potros puro sangue de corrida do nascimento aos 30 dias de vida: origem e incidência

Ninety eight Thoroughbred foals underwent physical (196 joint groups) and radiologic (196 carpi and other joints with clinical ALD) evaluation after birth in order to determine presence and origin of angular limb deformities (ALD). Thirty days later 57 foals were reevaluated. At the physical examination performed at age 1 to 5 days ALD were observed on 94 (48.0%) carpal joints, 12 (6.1%) forelimb fetlocks, 10 (5.1%) tarsal joints and 2 (1.0%) hindlimb fetlocks showing that ALD are a common finding in neonatal foals, specially Carpus valgus. From 196 evaluated carpal joints 52.0% had straight limbs, 28.1% slight valgus deformity and 19.9% moderate valgus. The geometric evaluation of the radiographs showed that 53.1% of carpal joints had angles =5º, 44.4% between > 5 and 10º and 2.5% > 10º. A reduction of ALD was observed at 30 days: 68.5% of the carpus were straight, 24.6% had slight deviation and 7.0% moderate deformities. At X-Ray evaluation 67.5% of the carpal joints had angles =5º, 31.6% between > 5 and 10º and 0.9% > 10º. The spontaneous improvement of the ALD was significant on the clinical and radiologic evaluation (p 0.05).

Noventa e oito potros Puro Sangue de Corrida (PSC) foram avaliados quanto à presença e à origem de desvios angulares (DA) logo após o nascimento. Aos trinta dias, 57 potros foram reavaliados. Na primeira avaliação clínica, observaram-se DA em 94 (48,0%) articulações rádio-carpo-metacarpianas (rcmc), 12 (6,1%) metacarpo-falangianas (mcf), 10 (5,1%) tíbio-tarso-metatarsianas (ttmt) e 2 (1,0%) metatarso-falangianas (mtf), mostrando que DA são comuns em potros recém-nascidos, especialmente na forma de Carpus valgus. Das 196 articulações rcmc examinadas, 52,0% não apresentaram DA, 28,1% tinham DA valgus discreto e 19,9% DA valgus moderado. Aos 30 dias - 114 articulações rcmc (57 potros) - observou-se uma redução clínica nos DA: 68,5% das articulações rcmc não apresentaram DA, 24,6% apresentaram DA discretos e 7,0% DA moderados. A avaliação geométrica das radiografias revelou que 53,1% das articulações rcmc apresentaram ângulos =5º, 44,4% de > 5 - 10º e 2,5% > 10º. Aos 30 dias após o nascimento, 67,5% das articulações rcmc tinham ângulos =5º, 31,6% de > 5 a 10º e 0,9% > 10º. A redução dos DA foi significativa na avaliação clínica e radiológica (p 0,05), indicando um processo de recuperação espontânea.