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1.
Childs Nerv Syst ; 37(7): 2139-2146, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33934204

RESUMO

PURPOSE: This paper reviews the plausible etiological mechanisms, clinical features, preoperative analysis, and documented modern-day craniopagus parasiticus surgical separation attempts as well as an historical review of the few cases documented in the literature. METHODS: We describe the successful separation of a 28-week preterm newborn from its parasite sibling twin bearing lethal congenital anomalies associated to Cantrell's pentad and sirenomelia. Description of the case, plausible explanations on the mechanisms of conjointment along with the associated congenital abnormalities of the deceased twin are examined along with an historical revision of craniopagus parasiticus and their separation attempts with special attention to the previously undocumented attempt of the Dominican CP separation surgery by Lazareff et al. RESULTS: The use of the deceased twin cranial vault tissues (skin, bone, and duramater) as an autologous implant due to the identical genetical profile served to remodel and close the skull of the surviving twin with good esthetic results and no tissue rejection. To our knowledge, this is the youngest preterm set of craniopagus parasiticus separated in an emergency fashion with good functional and esthetic outcome. CONCLUSIONS: Craniopagus parasiticus is an infrequent subvariant of this rare form of twin conjointment which may require urgent separation due to the associated malformations of the parasitic twin; therefore, the fact that both siblings are genetically identical may prove as an advantage to use duramater, bone, and soft tissues from the parasitic twin as ideal grafts for covering the resultant defect after the separation has been performed.


Assuntos
Ectromelia , Parasitos , Gêmeos Unidos , Animais , Humanos , Recém-Nascido , Irmãos , Crânio/cirurgia , Gêmeos Unidos/cirurgia
2.
Am J Med Genet C Semin Med Genet ; 187(2): 151-156, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33982428

RESUMO

Symmelia (alias sirenomelia, mermaid malformation) is one of the most distinctive malformations which, not surprisingly, has attracted the attention of many artists, writers and other observers of the human condition. Works of art depicting symmelia date back at least two millennia. Some are anatomically based while others are more fanciful creations intended to stir the imagination. The figure of Atargatis as a mermaid on a first century BC coin is one of the earliest known images of symmelia. A nearly 2000-year-old Native American pottery figure representing an infant with symmelia is another.


Assuntos
Ectromelia , Humanos , Lactente
3.
J Med Case Rep ; 15(1): 217, 2021 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-33902682

RESUMO

BACKGROUND: Sirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000-70,000 pregnancies. Sirenomelia is mainly characterized by the fusion of lower limbs and is widely associated with severe urogenital and gastrointestinal malformations. The presence of a single umbilical artery derived from the vitelline artery is the main anatomical feature distinguishing sirenomelia from caudal regression syndrome. First-trimester diagnosis of this disorder and induced abortion may be the safest medical option. In this report, two cases of sirenomelia that occurred in an white family will be discussed. CASE PRESENTATION: We report two white cases of sirenomelia occurring in a 31-year-old multigravid pregnant woman. In the first pregnancy (18 weeks of gestation) abortion was performed, but in the third pregnancy (32 weeks) the stillborn baby was delivered by spontaneous vaginal birth. In the second and fourth pregnancies, however, she gave birth to normal babies. Three-dimensional ultrasound imaging showed fusion of the lower limbs. Neither she nor any member of her family had a history of diabetes. In terms of other risk factors, she had no history of exposure to teratogenic agents during her pregnancy. Also, her marriage was non-consanguineous. CONCLUSION: This report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring.


Assuntos
Ectromelia/diagnóstico por imagem , Imageamento Tridimensional , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal , Aborto Induzido , Adulto , Feminino , Humanos , Gravidez
5.
Am J Med Genet A ; 185(5): 1379-1387, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33522143

RESUMO

Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenomelia, VACTERL association, OEIS complex, limb-body wall defect (LBWD), urorectal septum malformation (URSM) sequence, and MURCS association, all of which predominantly affect caudal structures. On the basis of the overlap of the component malformations, the co-occurrence in individual fetuses, and the findings on fetal examination, a common pathogenesis is proposed for these patterns of malformation. The presence of a single artery in the umbilical cord provides a visible clue to the pathogenesis of all cases of sirenomelia and 30%-50% of cases of VACTERL association, OEIS complex, URSM sequence, and LBWD. The single artery is formed by a coalescence of arteries that supply the yolk sac, arises from the descending aorta high in the abdominal cavity, and redirects blood flow from the developing caudal structures of the embryo to the placenta. This phenomenon during embryogenesis is termed vitelline vascular steal.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Anormalidades Múltiplas/diagnóstico , Canal Anal/anormalidades , Anormalidades Congênitas/diagnóstico , Ectromelia/diagnóstico , Esôfago/anormalidades , Cardiopatias Congênitas/fisiopatologia , Rim/anormalidades , Deformidades Congênitas dos Membros/fisiopatologia , Ductos Paramesonéfricos/anormalidades , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/fisiopatologia , Anormalidades Múltiplas/fisiopatologia , Canal Anal/irrigação sanguínea , Canal Anal/fisiopatologia , Anus Imperfurado/fisiopatologia , Aorta/patologia , Artérias/patologia , Anormalidades Congênitas/fisiopatologia , Ectromelia/fisiopatologia , Embrião de Mamíferos , Esôfago/irrigação sanguínea , Esôfago/fisiopatologia , Extremidades/irrigação sanguínea , Extremidades/embriologia , Extremidades/crescimento & desenvolvimento , Feminino , Feto , Hérnia Umbilical/fisiopatologia , Humanos , Rim/irrigação sanguínea , Rim/fisiopatologia , Ductos Paramesonéfricos/irrigação sanguínea , Ductos Paramesonéfricos/fisiopatologia , Gravidez , Escoliose/fisiopatologia , Coluna Vertebral/irrigação sanguínea , Coluna Vertebral/fisiopatologia , Tronco/irrigação sanguínea , Tronco/fisiopatologia , Traqueia/irrigação sanguínea , Traqueia/fisiopatologia , Cordão Umbilical/irrigação sanguínea , Cordão Umbilical/fisiopatologia , Anormalidades Urogenitais/fisiopatologia
6.
Medicine (Baltimore) ; 100(1): e24229, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33429820

RESUMO

RATIONALE: Sirenomelia is a rare congenital malformation that threatens fetal survivals. The cases in which twin with sirenomelia and chromosomal abnormality have been seldomly reported. We reported a dichorionic twin case in which one twin had sirenomelia, the other twin had a normal phenotype, and they had different chromosomal abnormalities. PATIENT CONCERNS: The abnormal twin was found at 22 weeks by ultrasound. The sirenomelia fetus was complicated with a thoracic stenosis, enlarged rectum without anal opening, the absence of bilateral kidneys, a single umbilical artery, a single lower limb, the abnormal curvature of spine, double outlet of right ventricle, which were the indicatives of the chromosome detection. DIAGNOSIS: The copy number variation of the sirenomelia fetus was detected as a deletion of 4.8Mb in 11p11.12-11q11. The co-twin was found with del(Y)(q11.223q11.23), which was as the same as his father's. The mother had normal chromosome. The parents had normal phenotypes. It was firstly reported a microdeletion with sirenomelia fetus. INTERVENTIONS: There was no specific treatments for the twins. OUTCOMES: Intrauterine death of the sirenomelia fetus was found at 27 weeks and postnatal death after inevitable abortion happened to the co-twin. LESSONS: Prenatal ultrasound was responsible for recognizing sirenomelia, and the detailed ultrasound scanning and chromosome detection should be done for the co-twin. The etiology of sirenomelia remains unclear, and genetic detection is also necessary for its pathogenesis research.


Assuntos
Aberrações Cromossômicas , Ectromelia/diagnóstico , Gravidez de Gêmeos , Ultrassonografia Pré-Natal , Adulto , Diagnóstico Diferencial , Ectromelia/diagnóstico por imagem , Ectromelia/genética , Feminino , Morte Fetal , Humanos , Gravidez , Segundo Trimestre da Gravidez
7.
J Pediatr Orthop ; 41(2): e103-e104, 2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33017336

RESUMO

The painting, "The First Act of Mercy" shows a subject with complex lower limb anomalies. The probable diagnosis is discussed.


Assuntos
Pinturas/história , Anormalidades Múltiplas , Ectromelia , Deformidades Congênitas do Pé , Deformidades Congênitas da Mão , História do Século XVI , Humanos , Nariz/anormalidades , Ortopedia
8.
Z Geburtshilfe Neonatol ; 225(3): 279-282, 2021 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-32992402

RESUMO

Tetra-amelia is extremely rare with an incidence of 2.4 per 10,000,000 births. It describes the absence of all 4 outer extremities and can be associated with other malformations. The boy presented here was diagnosed at 22 1/7 weeks of gestation by sonography in 2D and 3D mode. The parents decided to continue the pregnancy; vaginal birth occurred after external rotation at 38 1/7 weeks of pregnancy. Postnatally, surgical closure of a cleft of the soft palate was performed. External abnormalities manifested themselves increasingly in the area of the spine and the face. The anatomically limited psychomotor development of the child is supported by physiotherapy, occupational therapy, and speech therapy. Various aids enable the child to participate in activities appropriate to his age.


Assuntos
Ectromelia , Criança , Feminino , Humanos , Incidência , Masculino , Pais , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
10.
J Craniofac Surg ; 32(1): e23-e25, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32833836

RESUMO

ABSTRACT: Roberts syndrome (RBS) is a rare craniofacial anomaly associated with tetraphocomelia, growth and mental retardation, cardiac and renal abnormalities. The RBS is caused by homozygous mutation in the ESCO2 gene on chromosome 8p21. In this report, the authors describe a 5-year-old female infant with RBS and bilateral cleft lip and cleft palate, an extremely rare condition.


Assuntos
Fenda Labial , Fissura Palatina , Acetiltransferases , Pré-Escolar , Proteínas Cromossômicas não Histona , Fenda Labial/genética , Fenda Labial/cirurgia , Fissura Palatina/genética , Fissura Palatina/cirurgia , Anormalidades Craniofaciais , Ectromelia , Feminino , Humanos , Hipertelorismo
11.
Wien Med Wochenschr ; 171(3-4): 79-81, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33315162

RESUMO

BACKGROUND: Little is known about pregnancy rates and outcome in women with motoric disabilities like cerebral palsy (CP) and even less in phocomelia. OBJECTIVE: To show complications and psychosocial issues in relation to pregnancy burdened by impaired mobility in CP and phocomelia. CASE REPORT: We present an overview of the pregnancy outcome in two cases of sisters with cerebral palsy and phocomelia. We show complications and psychosocial issues in relation to pregnancy burdened by impaired mobility. Both sisters had a successful pregnancy outcome. CONCLUSION: There is a need to increase awareness, education, support, and advocacy in order to optimize pregnancy course and outcome in women with CP and phocomelia.


Assuntos
Paralisia Cerebral , Ectromelia , Ectromelia/genética , Feminino , Humanos , Gravidez , Resultado da Gravidez
12.
PLoS Genet ; 16(12): e1009219, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33382686

RESUMO

Roberts syndrome (RBS) is a rare developmental disorder that can include craniofacial abnormalities, limb malformations, missing digits, intellectual disabilities, stillbirth, and early mortality. The genetic basis for RBS is linked to autosomal recessive loss-of-function mutation of the establishment of cohesion (ESCO) 2 acetyltransferase. ESCO2 is an essential gene that targets the DNA-binding cohesin complex. ESCO2 acetylates alternate subunits of cohesin to orchestrate vital cellular processes that include sister chromatid cohesion, chromosome condensation, transcription, and DNA repair. Although significant advances were made over the last 20 years in our understanding of ESCO2 and cohesin biology, the molecular etiology of RBS remains ambiguous. In this review, we highlight current models of RBS and reflect on data that suggests a novel role for macromolecular damage in the molecular etiology of RBS.


Assuntos
Acetiltransferases/genética , Proteínas Cromossômicas não Histona/genética , Anormalidades Craniofaciais/genética , Dano ao DNA , Ectromelia/genética , Hipertelorismo/genética , Acetiltransferases/metabolismo , Animais , Proteínas Cromossômicas não Histona/metabolismo , Anormalidades Craniofaciais/metabolismo , Ectromelia/metabolismo , Instabilidade Genômica , Humanos , Hipertelorismo/metabolismo
13.
Anaesthesiol Intensive Ther ; 52(4): 352-353, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33165889

RESUMO

Choosing the right anaesthetic technique and postoperative analgesia after major surgery can be a great challenge for paediatric anaesthetists, especially when younger children are concerned. The simultaneous use of systemic analgesics with adjuncts in combination with single-shot blocks performed at the right time may facilitate the patient's recovery and result in a comfortable postoperative period.


Assuntos
Anestesia Epidural/métodos , Bloqueio Nervoso/métodos , Dor Pós-Operatória/prevenção & controle , Ectromelia/cirurgia , Feminino , Humanos , Lactente , Manejo da Dor/métodos
14.
Arch Oral Biol ; 119: 104918, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32977150

RESUMO

OBJECTIVE: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. A homozygous mutation in ESCO2 has recently been reported to cause Juberg-Hayward syndrome. Our objective was to investigate the molecular etiology of Juberg-Hayward syndrome in two affected Lisu tribe brothers. MATERIALS AND METHODS: Two patients, the unaffected parents, and two unaffected siblings were studied. Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, Western blot analysis, and chromosome testing were performed. RESULTS: Two affected brothers had characteristic features of Juberg-Hayward syndrome, except for the absence of microcephaly. The elder brother had bilateral cleft lip and palate, short stature, humeroradial synostosis, and simple partial seizure with secondary generalization. The younger brother had unilateral cleft lip and palate, short stature, and dislocation of radial heads. The homozygous (c.1654C > T; p.Arg552Ter) mutation in ESCO2 was identified in both patients. The other unaffected members of the family were heterozygous for the mutation. The presence of humeroradial synostosis and radial head dislocation in the same family is consistent with both being in the same spectrum of forearm malformations. Chromosome testing of the affected patients showed premature centromere separation. Western blot analysis showed reduced amount of truncated protein. CONCLUSION: Our findings confirm that a homozygous mutation in ESCO2 is the underlying cause of Juberg-Hayward syndrome. Microcephaly does not appear to be a consistent feature of the syndrome.


Assuntos
Acetiltransferases/genética , Proteínas Cromossômicas não Histona/genética , Anormalidades Craniofaciais/genética , Ectromelia/genética , Hipertelorismo/genética , Síndromes Orofaciodigitais/genética , Humanos , Masculino , Mutação
15.
Am J Med Genet A ; 182(11): 2793-2796, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32783269

RESUMO

Roberts syndrome (also known as Roberts-SC phocomelia syndrome) is an autosomal recessive developmental disorder, characterized by pre- and postnatal growth retardation, limb malformations including bilateral symmetric tetraphocomelia or mesomelia, and craniofacial dysmorphism. Biallelic loss-of-function variants in ESCO2, which codes for establishment of sister chromatid cohesion N-acetyltransferase 2, cause Roberts syndrome. Phenotypic spectrum among patients is broad, challenging clinical diagnosis in mildly affected individuals. Here we report a 3-year-old boy with a mild phenotype of Roberts syndrome with bilateral elbow contractures, humeroradial synostosis, mild lower limb disparity, and facial dysmorphism. Trio whole-exome sequencing identified the novel biallelic splice variant c.1673+1G>A in ESCO2 in the patient. Aberrant ESCO2 pre-mRNA splicing, reduced relative ESCO2 mRNA amount, and characteristic cytogenetic defects, such as premature centromere separation, heterochromatin repulsion, and chromosome breaks, in patient cells strongly supported pathogenicity of the ESCO2 variant affecting one of the highly conserved guanine-thymine dinucleotide of the donor splice site. Our case highlights the difficulty in establishing a clinical diagnosis in individuals with minor clinical features of Roberts syndrome and normal intellectual and social development. However, next-generation sequencing tools allow for molecular diagnosis in cases presenting with mild developmental defects.


Assuntos
Acetiltransferases/genética , Proteínas Cromossômicas não Histona/genética , Contratura/congênito , Anormalidades Craniofaciais/patologia , Ectromelia/patologia , Cotovelo/patologia , Úmero/anormalidades , Hipertelorismo/patologia , Mutação , Splicing de RNA , Rádio (Anatomia)/anormalidades , Sinostose/patologia , Pré-Escolar , Contratura/complicações , Contratura/genética , Contratura/patologia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/genética , Ectromelia/complicações , Ectromelia/genética , Homozigoto , Humanos , Úmero/patologia , Hipertelorismo/complicações , Hipertelorismo/genética , Masculino , Fenótipo , Rádio (Anatomia)/patologia , Sinostose/complicações , Sinostose/genética
16.
Medisan ; 24(4)jul.-ago. 2020. ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1125142

RESUMO

Se describe el caso clínico de una paciente de 28 años de edad, que a las 23,4 semanas de gravidez fue ingresada en el Hospital Ginecoobstétrico Docente Tamara Bunke Bider de Santiago de Cuba con el objetivo de interrumpir el embarazo, por sugerencia de los especialistas del Centro Provincial de Genética Médica, quienes habían detectado una malformación fetal (focomelia de los miembros superiores) en la ecografía del segundo trimestre. A la gestante se le realizó una histerotomía; al ser extraído el feto, se confirmó el diagnóstico ecográfico.


The case report of a 28 years patient is described, she was admitted to Tamara Bunke Bider Teaching Gynaecoobstetric Hospital in Santiago de Cuba at the 23.4 weeks of pregnancy with the objective of interrupting pregnancy, due to the specialists of the Provincial Center of Medical Genetics suggestion who had detected a fetal malformation (phocomelia of the upper limbs) in the echography of the second trimester. When the fetus was removed, a hysterectomy was carried out and the echographic diagnosis was confirmed.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Ectromelia/diagnóstico por imagem , Segundo Trimestre da Gravidez , Ultrassonografia , Genética Médica
17.
J Craniofac Surg ; 31(6): e574-e577, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32569048

RESUMO

Roberts Syndrome is an extremely rare syndrome reporting about 150 cases in the literature, with a very low survival rate. The authors present a case of a female patient with Roberts Syndrome who also had a coronal craniosynostosis. The aim of this case report is to present a case of a patient with Roberts Syndrome with a brachycephaly that required management of fronto-orbital advancement. In conclusion Roberts Syndrome is a rare disease, which can have different skeletal variations. This syndrome can manifest itself with craniosynostosis, with the requirement of a comprehensive management to correct it and avoid compression of the brain with endocranial hypertension.


Assuntos
Anormalidades Craniofaciais/cirurgia , Ectromelia/cirurgia , Osso Frontal/cirurgia , Hipertelorismo/cirurgia , Órbita/cirurgia , Craniossinostoses/cirurgia , Feminino , Humanos , Lactente , Procedimentos Cirúrgicos Reconstrutivos
18.
Turk Patoloji Derg ; 36(3): 256-260, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32525213

RESUMO

Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and one of the rare and lethal congenital malformations. The anomalies that might be seen in this syndrome include pelvic-sacral dysplasia, genital anomalies, bilateral pelvic renal fusion accompanied by renal dysplasia, colon atresia, unilateral umbilical artery, and imperforated anus. The incidence of sirenomelia is 0.8-1 cases in 60,000-100,000 deliveries and the male/female ratio is 2.7-3:1. The case reported in the present study was a 13-week-old male fetus 30 g in weight with a macerated appearance. The upper extremities had a relatively normal appearance but the lower extremities were conjoined and there was a single lower extremity consisting of conjoined feet and toes. In the face, the nasal bridge was sunken, the ears had a low position, and there were cleft palate and cleft lip. Examination of the external genital organs revealed that the penile part was in the anal region. There was no anus opening. The crown-rump length was 8.5cm, the heel-toe length was approx. 1cm, and the rump-heel length was approx. 3.7cm. There were none of the two kidneys, ureter, bladder, urethra, or rectum. In the umbilical cord, there were 2 venous structures, one of which was the artery. Perivillous congestion and hyperemia, perivillous calcification, deciduitis, and focal infarct regions were observed in placental tissues. This report aims to discuss this very rare case together with the literature.


Assuntos
Anormalidades Múltiplas/patologia , Ectromelia/patologia , Feminino , Feto , Humanos , Masculino , Gravidez
19.
Int. j. morphol ; 38(3): 793-798, June 2020. graf
Artigo em Inglês | LILACS | ID: biblio-1098321

RESUMO

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.


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Anormalidades Múltiplas , Ectromelia/complicações , Ectromelia/diagnóstico , Doenças Fetais/diagnóstico , Canal Anal/anormalidades , Síndrome , Traqueia/anormalidades , Evolução Fatal , Esôfago/anormalidades , Rim/anormalidades
20.
JBJS Case Connect ; 10(1): e0267, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32224648

RESUMO

CASE: A 20-year-old man with a history of right lower extremity fibular hemimelia previously treated with PRECICE femoral nail lengthening presented with a broken magnetic nail and a displaced fracture through an ununited distraction osteogenesis site. Using a combination of techniques, we removed the broken implant while maintaining the achieved limb length and preserving the native biology without bone grafting. CONCLUSION: The unique challenges associated with the removal of a broken PRECICE femoral nail are described, with a technique for implant removal that preserves the achieved length, the innate biology of the distraction osteogenesis site, and promoting union without bone grafting.


Assuntos
Remoção de Dispositivo/métodos , Desigualdade de Membros Inferiores/cirurgia , Osteogênese por Distração/instrumentação , Pinos Ortopédicos/efeitos adversos , Ectromelia/cirurgia , Humanos , Masculino , Adulto Jovem
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