RESUMO
Diprosopus is a congenital anomaly in which partial or complete duplication of craniofacial structures occurs. Because it is rare, the mortality rate is high, and information concerning this anomaly is scarce. This study describes a case of human diprosopus in a 9-year-old male individual, who has severe complications associated with the central nervous, cardiovascular, respiratory, and digestive systems. Since birth, he has been monitored in a specialized hospital environment, where he has undergone several surgeries and multidisciplinary treatments. Regarding the craniofacial aspects, he had agenesis of the corpus callosum, floor of the nasal cavity, and floor of the anterior cranial fossa, in addition to the presence of bone dysplasia, ocular hypertelorism and cleft palate with nasal and oral teratoma. Regarding dental characteristics, the patient has duplication of the maxilla, mandible, tongue, and some teeth. After complementary imaging exams, several supernumerary teeth were found, with some being impacted and in complex regions, with an indication for extraction due to the risks of impaction, irruptive deviation, root resorption, and associated cystic or tumoral lesions. Because of the numerous complications, knowledge, and preparation of the entire team is necessary for the correct management of the case.
Assuntos
Anormalidades Craniofaciais , Humanos , Masculino , Criança , Agenesia do Corpo Caloso , Fissura Palatina , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/cirurgia , Teratoma/congênito , Teratoma/cirurgia , Teratoma/diagnóstico por imagem , Hipertelorismo , Anormalidades Múltiplas , Cavidade Nasal/anormalidades , Cavidade Nasal/diagnóstico por imagemRESUMO
BACKGROUND: Opitz GBBB syndrome (GBBB) is an X-linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias. METHODS: Targeted exome sequencing analysis of a 380-gene panel associated with cardiovascular disease was performed on the propositus. Interpretative analysis of the exome results was conducted, and 3D models of the protein changes were generated. RESULTS: We identified a NM_000381.4:c.608G>A;p.(Arg203Gln) change in MID1, affecting the conformation of the B-box 2 domain of the protein, with a zinc finger structure and associated protein interactions. This clinical phenotype is consistent with GBBB; however, the type of congenital heart disease observed in this case has not been previously reported. CONCLUSION: A new likely pathogenic variant on MID1 c.608G>A was found to be associated with Opitz GBBB syndrome.
Assuntos
Doenças Genéticas Ligadas ao Cromossomo X , Hipertelorismo , Hipospadia , Humanos , Masculino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hipertelorismo/genética , Hipospadia/genéticaRESUMO
ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.
RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.
Assuntos
Humanos , Masculino , Criança , Anormalidades Múltiplas , Doenças do Nervo Óptico/fisiopatologia , Esotropia/fisiopatologia , Nistagmo Patológico/fisiopatologia , Miopia/fisiopatologia , Erros Inatos do Transporte Tubular Renal , Síndrome , Acidose Tubular Renal , Descolamento Retiniano , Criptorquidismo , Síndrome de Fanconi/fisiopatologia , Agenesia do Corpo Caloso/fisiopatologia , Hérnias Diafragmáticas Congênitas , Perda Auditiva Neurossensorial , Hipertelorismo/fisiopatologiaAssuntos
COVID-19 , Hipertelorismo , Anormalidades Múltiplas , Canal Anal/anormalidades , Coloboma , Humanos , Prognóstico , Estudos Prospectivos , SARS-CoV-2RESUMO
BACKGROUND: Craniofrontonasal dysplasia (CFND) is a rare congenital craniofacial syndrome characterized by single suture synostosis, hypertelorism, other clinical facial features, and abnormalities in the upper extremities. There are only a few studies in the applicable literature that address hypertelorism management for CFND patients and outcomes and complication rates. METHODS: A retrospective study was performed on consecutive late presenting CFND patients referred to our hospital with substantially completed craniofacial skeleton growth, who underwent hypertelorism correction between 2007 and 2019 following intracranial pressure screening, and who received at least 1 year of follow-up care. None of the patients in this study underwent prior craniofacial surgery. Only those patients with a confirmed mutation of the EFNB1 gene were included in this study. All patients in this study underwent hypertelorism correction by facial bipartition or box osteotomy. RESULTS: A total of ten late presenting CFND patients (all female) were treated at our hospital during the study period. None of the patients presented signs of elevated intracranial pressure. The average patient age at hypertelorism correction was 13.4 ± 7.68 years of age. Major complications, defined as complications requiring a return to the operating room, were limited to infection of the frontal bone, which required partial bone removal, and cerebrospinal fluid (CSF) leak, which was completely resolved by insertion of a lumbar shunt for a 7-day period. CONCLUSION: The absence of elevated intracranial pressure enables hypertelorism correction in late presenting CFND patients via facial bipartition or box osteotomy without the need for additional operations that provide for cranial expansion.
Assuntos
Anormalidades Craniofaciais , Hipertelorismo , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/cirurgia , Feminino , Osso Frontal , Humanos , Hipertelorismo/cirurgia , Estudos RetrospectivosRESUMO
Se describe el caso clínico de un adolescente de 18 años con antecedente patológico de una operación por hipertelorismo en su primer año de vida, quien fue asistido en el Servicio de Nefrología del Hospital Infantil Docente Norte Dr. Juan de la Cruz Martínez Maceira de Santiago de Cuba, debido a una disminución marcada de la función renal, por lo cual requirió terapias sustitutivas. Su estado persistió por más de 3 meses y se consideró como una insuficiencia renal crónica en fase terminal. Se realizaron varios exámenes complementarios en busca de la causa y se interconsultó con otras especialidades, como la de Genética Clínica, por la presencia de trastornos dismórficos; finalmente, se diagnosticó el síndrome de Robinow. El paciente permaneció con hemodiálisis por 2 años hasta que su condición fue estable para recibir un trasplante de riñón.
The case report of an 18 years adolescent is described with pathological history of a surgery due to hypertelorism in his first year of life who was assisted in the Nephrology Service of Dr. Juan de la Cruz Martínez Maceira Northern Teaching Children Hospital in Santiago de Cuba, due to a marked decrease of the renal function, reason why he required substitute therapies. His condition persisted for more than 3 months and it was considered as a chronic kidney failure in end stage. Several complementary exams were carried out to find out the cause and other specialties participated in the diagnosis, as Clinical Genetics, due to the presence of dysmorphic disorders; finally, Robinow syndrome was diagnosed. The patient remained with hemodialysis for 2 years until her condition was stable to receive a renal transplant.
Assuntos
Insuficiência Renal Crônica , Genética , Falência Renal Crônica , Diálise Renal , Transplante de Rim , HipertelorismoRESUMO
Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy. The complete understanding of the mechanisms by which thalidomide affects the embryo development has not yet been obtained. The phenotypic similarity makes TE a phenocopy of syndromes caused by mutations in ESCO2, SALL4 and TBX5 genes. Recently, SALL4 and TBX5 were demonstrated to be thalidomide targets. To understand if these genes act in the TE development, we sequenced them in 27 individuals with TE; we verified how thalidomide affect them in human pluripotent stem cells (hPSCs) through a differential gene expression (DGE) analysis from GSE63935; and we evaluated how these genes are functionally related through an interaction network analysis. We identified 8 variants in ESCO2, 15 in SALL4 and 15 in TBX5. We compared allelic frequencies with data from ExAC, 1000 Genomes and ABraOM databases; eight variants were significantly different (p < 0.05). Eleven variants in SALL4 and TBX5 were previously associated with cardiac diseases or malformations; however, in TE sample there was no association. Variant effect prediction tools showed 97% of the variants with potential to influence in these genes regulation. DGE analysis showed a significant reduction of ESCO2 in hPSCs after thalidomide exposure.
Assuntos
Acetiltransferases/genética , Proteínas Cromossômicas não Histona/genética , Predisposição Genética para Doença , Proteínas com Domínio T/genética , Teratogênese/genética , Talidomida/efeitos adversos , Fatores de Transcrição/genética , Anormalidades Múltiplas/induzido quimicamente , Anormalidades Múltiplas/genética , Brasil , Linhagem Celular , Anormalidades Craniofaciais/induzido quimicamente , Anormalidades Craniofaciais/genética , Conjuntos de Dados como Assunto , Síndrome da Retração Ocular/induzido quimicamente , Síndrome da Retração Ocular/genética , Ectromelia/induzido quimicamente , Ectromelia/genética , Feminino , Perfilação da Expressão Gênica , Frequência do Gene , Cardiopatias Congênitas/induzido quimicamente , Cardiopatias Congênitas/genética , Comunicação Interatrial/induzido quimicamente , Comunicação Interatrial/genética , Humanos , Hipertelorismo/induzido quimicamente , Hipertelorismo/genética , Hanseníase/tratamento farmacológico , Deformidades Congênitas das Extremidades Inferiores/induzido quimicamente , Deformidades Congênitas das Extremidades Inferiores/genética , Masculino , Mutação , Células-Tronco Pluripotentes , Polimorfismo de Nucleotídeo Único , Gravidez , Complicações na Gravidez/tratamento farmacológico , Mapas de Interação de Proteínas/genética , Teratogênese/efeitos dos fármacos , Deformidades Congênitas das Extremidades Superiores/induzido quimicamente , Deformidades Congênitas das Extremidades Superiores/genéticaRESUMO
PURPOSE: To identify and determine variations on eye distance in patients with bilateral nasal polyposis (BNP) compared to a healthy control group. METHODS: This is a case-control study that included 20 BNP patients and 40 healthy controls. We included all patients with BNP confirmed by pathology and a computed tomography scan. A healthy control group was admitted, filtered by the exclusion criteria of nasal polyposis, craniofacial malformations, and encephalocele. Paranasal sinus CT scans were performed in all participants, and two measures were evaluated, the interoptic (soft tissue) and the interzygomatic (bone structure) distances. RESULTS: A total of 20 BNP subjects, 13 (65%) male and 7 (35%) female, with a mean age of 38.8 years, and 40 healthy controls, 16 (40%) male and 24 (60%) female with a mean age of 43.2 years, were included. The mean interoptic distance was 69.7 mm (71.9 mm men, 66.4 mm women) and interzygomatic distance was 103.1 mm (104.5 mm men, 100.6 mm women). A significant increase of the interoptic (p < 0.001) and interzygomatic (p < 0.002) measurements was found in patients with polyposis compared to the controls. In the receptor operative curve analysis, the interoptic distance had an area under a curve of 96% and the threshold that maximizes the sensitivity and specificity was 59.85 mm (sensitivity 90%, specificity 95%, PPV 90%, NPV 95%). CONCLUSIONS: An increase in ocular and orbital distances was identified in patients with BNP. Polyposis may be identified by measuring eye separation. The established cut point distance identifies patients that may benefit from follow-up. Further research in this study line is suggested.
Assuntos
Hipertelorismo/diagnóstico , Pólipos Nasais/diagnóstico , Zigoma/diagnóstico por imagem , Adulto , Pesos e Medidas Corporais/métodos , Pesos e Medidas Corporais/estatística & dados numéricos , Estudos de Casos e Controles , Correlação de Dados , Feminino , Humanos , Masculino , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/métodosAssuntos
Disostose Craniofacial/diagnóstico , Hipertelorismo/diagnóstico , Órbita/anatomia & histologia , Pediatria/história , Adolescente , Adulto , Antropometria , Cefalometria , Criança , Pré-Escolar , Anormalidades Craniofaciais/fisiopatologia , Olho/anatomia & histologia , História do Século XX , História do Século XXI , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Órbita/fisiopatologia , Valores de Referência , Adulto JovemRESUMO
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient's eyelids resolved her signs and symptoms.