Sirenomelia associated with VACTERL and VACTERL-H syndrome / Sirenomelia asociaciada con síndrome de VACTERL y VACTERL-H

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.

La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.

Hemimelia peronea: presentación de un caso / Fibular hemimelia: a case presentation

FUNDAMENTO: la hemimelia peronea es un defecto de los huesos largos que puede ser parcial o total y estar asociada a otras anomalías congénitas de fémur, tibia y pie. OBJETIVO: presentar un caso de hemimelia peronea el cual fue diagnosticado en consulta externa por medio del cuadro clínico y radiografías. CASO CLÍNICO: paciente masculino de 10 años de edad, blanco. Refiere la mamá que el niño nació con un defecto en la pierna y ha llevado tratamiento con calzado ortopédico y al ver que no mejora es traído a consulta externa donde a la exploración física se observó deformidad del tobillo derecho en valgo y claudicación a la marcha. Se indicó radiografía de la pierna anteroposterior y lateral y al observar ausencia de una porción del peroné y deformidad de la articulación del tobillo, se decide ingresar con el diagnóstico de hemimelia del peroné para tratamiento quirúrgico mediante osteotomía interna de la tibia. CONCLUSIONES: la hemimelia del peroné se considera un diagnóstico poco frecuente en nuestro medio, el tratamiento de elección es el quirúrgico para mejorar las manifestaciones clínicas.

BACKGROUND: fibular hemimelia is a defect in the long bones that can be partial or total and can be associated to other congenital anomalies of the femur, tibia and foot. OBJECTIVE: to present a case of fibular hemimelia that was diagnosed in the outpatient clinics based on the clinical manifestations and radiographies. CLINICAL CASE: a ten-year-old, white, male patient. The mother of the patient said that the boy was born with a defect in the leg and had been under treatment with orthopedic footwear but since he did not get better he was taken to the outpatient clinics. During the physical examination, a valgus deformity in the ankle and claudication when walking could be observed. The patient had a lateral and anteroposterior radiography of the leg taken and when the absence of a part of the fibula and a deformity in the ankle articulation were noticed, it was decided to hospitalize the patient with the diagnosis of fibular hemimelia to operate through internal osteotomy of the tibia. CONCLUSIONS: fibular hemimelia is considered an infrequent diagnosis in our area. The most recommended treatment is the surgical in order to improve the clinical manifestations.

Sirenomelia associada a defeitos congênitos raros: relato de três casos / Sirenomelia associated with rare congenital defects: report of three cases

Sirenomelia é um defeito congênito muito raro do campo primário do desenvolvimento, definido pela substituição dos membros inferiores, normalmente pareados por um único membro mediano. Geralmente, associa-se a graus variados de anomalias gênito-urinárias. Relatamos três casos necropsiados dessa entidade, incluindo estudo radiológico do membro inferior único, associados a agenesia renal bilateral, de ureteres e da bexiga, atresia retal, ânus imperfurado, testículos abdominais e ausência de genitália externa, além de outros defeitos congênitos infrequentemente observados, que somente puderam ter seus diagnósticos firmados por meio da necropsia.

Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb. It is commonly associated with varied genitourinary anomalies. We report three cases of sirenomelia including x-ray documentation of the lower limb. Other associated aspects, whose diagnoses were established exclusively through autopsy, included bilateral renal, ureteral and bladder agenesis, rectal atresia, imperforate anus, intra-abdominal testis, absence of external genitalia and other rare congenital abnormalities.

child with roberts syndrome

Roberts syndrome Is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome

Tetra-amelia: a propósito de un caso / Tetra-amelia: a purpose of a case

Amelia es la ausencia de las partes esqueléticas en su totalidad de la extremidades superiores y inferiores. La Amelia total o tetra Amelia es la ausencia total de las cuatro extremidades. La falla en la formación del primordio en etapas tempranas del desarrollo embrionario o una disrupción en el desarrollo normal conllevan a la ausencia de una o mas extremidades. La prevalencia esta alrededor de 0.04-0.15/10000 nacidos. El diagnóstico prenatal se identifica por la ausencia de una o mas extremidades a través de la ultrasonografía. Mútiples defectos orgánicos han sido asociados a la Amelia y su pronóstico depende de la presencia o no de dichas anomalías. Nosotros reportamos nuestra experiencia con un feto diagnosticado por presencia o no de dichas anomalías. Nosotros reportamos nuestra experiencia con un feto diagnosticado por ultrasonografía con tetra-amelia a las 18 semanas y seis días de edad gestacional, con otras anomalías orgánicas.

Bilateral fibular hemimelia with recto-vestibular fistula associated with amniotic bands.

Fibular Hemimelia is a rare congenital disorder of deficiency to complete absence of fibula. It has been associated with post axial skeletal anomalies like shortening of femur, absence of lateral rays of foot and syndactyle, polydactyle etc. We report this case because of associated amniotic constriction bands over both the forearm, suggesting amniotic bands may be one of the causal factors of Fibular Hemimelia due to insult to the growing limb bud.

Sirenomelia.

Sirenomelia is a rare congenital anomaly with incidence of 1.5-4.2 per 100,000 births. Vascular steal phenomenon, posterior axial mesodermal defect or teratogenic defects have been implied in its pathogenesis. The authors present two cases with associated upper limb involvement and vertebral defects and complete absence of one lower limb bones in one case. Autopsy revealed abnormalities in internal organs. Both cases were associated with single umbilical artery and severe oligohyramnios. Sirenomelia should be suspected in antenatal period in cases presenting with severe oligohydramnios and intrauterine growth retardation for a early diagnosis and appropriate management of pregnancy.

An interesting rare case of sirenomelia.

In sirenomelia the caudal tissues of the foetus fail to develop because of the "stealing" of blood by a vitelline vascular shunt from the distal aorta during embryogenesis interfering with foetal development. A 25 years old 2nd gravida delivered one full term premature grossly asphyxiated baby at BS Medical College on 24-10-1998. The examination of the dead foetus revealed no genitalia, no anal nor urethral opening and having a single lower limb with the single thigh and rudimentary leg. Skiagram of the foetus corroborated it to be a case of syrenomelia.

Roberts-SC phocomelia syndrome.

A severely growth retarded baby was born at 38 weeks gestation. He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. He died of recurrent apneas. The autopsy showed left sided multicystic dysplastic kidney and absence of one testis. Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these patients have chromosomal defects and antenatal detection is possible on ultrasound and by chromosome analysis of the amniocytes.

Robinow syndrome.

Robinow syndrome is a rare congenital abnormality. It is characterized by mesomelic brachymelia, hemivertebrae, dysmorphic facies, genital hypoplasia, micropenis, clinodactyly, camptodactly, hypoplastic nails and moderate short stature. We are documenting the case on the account of its rarity and additional features.

Hemimelia paraxial peronea. Tratamiento mediante elongación ósea con distractores Orthofix. (Comunicación preliminar) / Peroneal paraxial hemimelia. Distraction bone lengthening by Orthofix external fixator. Preliminary report

Se analizan 9 pacientes portadores de hemimelias de diversos grados algunas con ausencia total de peroné y de los dos últimos rayos del pie y otras con hipoplasia del peroné, sin lesión de los rayos del pie. Se hace análisis clínico y radiológico de la presencia o no de las deformidades previas para establecer medidas prequirúrgicas como son deformidad del talón en valgo con angulación anterior de la tibia; contractura en flexión de la rodilla y equino del tobillo. En base a la edad cronológica y edad ósea se prevé el crecimiento a futuro de las extremidades para identificar si requiere elongaciones subsecuentes. Se identifican zonas de riesgo para la colocación de los clavos así como para el sitio de la osteotomía y en caso de la angulación de la tibia se realiza corrección de ésta durante la colocación del distractor. Se comparan observaciones obtenidas en nuestra clínica de alargamiento óseo de nuestro Servicio de Ortopedia, con las observaciones de otros autores de reportes internacionales

Amelia universal: reporte de un caso / Universal Amelia: report a case

Se presenta un caso de Amelia universal diagnosticado por ultrasonografía a las 29 semanas de gestación. Se hacen comentarios del diagnóstico y manejo perinatal y se revisa la literatura

report of five cases of paraxial fibular hemimelia with emphasis on conservative management

To elucidate the clinical spectrum of fibular hemimelia and discuss management issues. Design: Retrospective Hospital based case series involving five cases of Paraxial Fibular Hemimelia. Setting: Surgical Ward, Department of Paediatric Surgery, Children's Hospital, P. I. M. S. Subjects: Five consecutive cases of Fibular Hemimelia studied in the Paediatric Surgery Department. Main Outcome Measures: Clinical extent of the limb deformity, functional disability, associated malformations. All the patients were males. Average age of patients at the time of presentation was 4.2 months. 80% [n=4] of the patients had unilateral limb deficiency, while one patient [Case#4] had bilateral limb deficiency. Most of the cases had associated skeletal abnormalities. The most common associated abnormality was absence of lateral rays of foot in the same limb. Conclusions: Management of these patients is a real challenge because of reluctance for any form of ablative surgery and poor facilities for artificial prosthesis. In older children, we advised conservative management with surgical shoes and splints