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1.
J Pediatr Genet ; 13(3): 167-174, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39086440

ABSTRACT

Spondylocarpotarsal synostosis syndrome (SCT) is a very rare skeletal dysplasia characterized by vertebral, carpal, and tarsal fusion; growth retardation; and mild dysmorphic facial features. Variants in FLNB, MYH3, and RFLNA have been implicated in this dysplasia. We report the clinical and radiological follow-up of seven SCT pediatric cases associated with biallelic FLNB variants, from four Argentinian families. The seven cases share previously described facial characteristics: round facies, large eyes, and wide based nose; all of them had variable height deficit, in one case noted early in life. Other findings included clinodactyly, joint limitation without bone fusion, neurosensorial hearing loss, and ophthalmological compromise. All cases presented with spinal fusion with variable severity and location, carpal bones coalition, and also delay in carpal ossification. The heterozygous carrier parents had normal height values to -2.5 score standard deviation, without skeletal defects detected. Three different FLNB variants, one nonsense and two frameshift, were detected, all of which were predicted to result in a truncated protein or are degraded by nonsense mediated decay. All cases had at least one copy of the nonsense variant, c.1128C> G; p. (Tyr376*), suggesting the presence of a common ancestor.

2.
Childs Nerv Syst ; 40(9): 2801-2809, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38856746

ABSTRACT

PURPOSE: Sagittal synostosis is the most common isolated craniosynostosis. Surgical treatment of this synostosis has been extensively described in the global literature, with promising outcomes when it is performed in the first 12 months of life. However, in some cases, patients older than 12 months arrive at the craniofacial center with this synostosis. A comprehensive study on efficacy and perioperative outcomes has yet to be fully explored in this population. This systematic review and meta-analysis aimed to assess the available evidence of surgical outcomes for the treatment of sagittal synostosis among older patients to analyze the efficacy and safety of synostosis surgery in this unique population. METHODS: PubMed, Embase, and Scopus were searched for studies published from inception to March 2024 reporting surgical outcomes of synostosis surgery in older patients (> 12 months) with isolated sagittal synostosis. The main outcome was the reoperation rate, with secondary endpoints including transfusion rates, aesthetic outcomes, and surgical complications. RESULTS: Nine studies were included in the final analysis. The pooled proportion of the reoperation rate was 1%. The rate of excellent aesthetic results was 95%. The need for transfusion associated with the procedures was 86%, and finally, surgical complications attained a pooled ratio of 2%, indicating minimal morbidity associated with the surgical repair. CONCLUSION: Sagittal synostosis surgery is a safe and effective procedure to perform in older patients; this meta-analysis suggests that open surgery confers a significant rate of excellent aesthetic results with a low reoperation rate and minimal complications associated with the intervention. Future research with direct comparisons among different techniques will validate the findings of this study, which will all contribute to the rigor of synostosis management.


Subject(s)
Craniosynostoses , Humans , Craniosynostoses/surgery , Infant , Treatment Outcome , Child, Preschool , Plastic Surgery Procedures/methods , Plastic Surgery Procedures/adverse effects , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Reoperation/statistics & numerical data , Reoperation/methods
3.
Rev Bras Ortop (Sao Paulo) ; 58(3): 532-537, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37396085

ABSTRACT

Synostosis is a generic term to indicate the union of two originally separated bones. At the elbow, humeroradial or longitudinal synostosis causes significant disability, which varies depending on hand function, elbow positioning, adjacent joints mobility and contralateral limb function. It is estimated that, to date, a little more than 150 patients have been described with this deformity, which is more common in subjects with deficient ulnar formation or affected by conditions such as Antley-Bixler and Hermann syndromes. The lack of the elbow joint, with the formation of a longer bone due to humerus-radius fusion, results in stiffness. As such, it is assumed that fractures in this topography are not uncommon. However, since synostosis is rare, this lesion was only described twice in the literature. We report two patients with a fracture of the single bone formed by a humeroradial synostosis and Bayne type-IV ulnar formation failure. Both patients were treated surgically with success. We emphasize the need for adequate treatment to not compromise the daily activities of patients who are adapted to their deformity, thus avoiding worsening the function of a previously affected limb.

4.
Rev. Bras. Ortop. (Online) ; 58(3): 532-537, May-June 2023. tab, graf
Article in English | LILACS | ID: biblio-1449831

ABSTRACT

Abstract Synostosis is a generic term to indicate the union of two originally separated bones. At the elbow, humeroradial or longitudinal synostosis causes significant disability, which varies depending on hand function, elbow positioning, adjacent joints mobility and contralateral limb function. It is estimated that, to date, a little more than 150 patients have been described with this deformity, which is more common in subjects with deficient ulnar formation or affected by conditions such as Antley-Bixler and Hermann syndromes. The lack of the elbow joint, with the formation of a longer bone due to humerus-radius fusion, results in stiffness. As such, it is assumed that fractures in this topography are not uncommon. However, since synostosis is rare, this lesion was only described twice in the literature. We report two patients with a fracture of the single bone formed by a humeroradial synostosis and Bayne type-IV ulnar formation failure. Both patients were treated surgically with success. We emphasize the need for adequate treatment to not compromise the daily activities of patients who are adapted to their deformity, thus avoiding worsening the function of a previously affected limb.


Resumo Sinostose é um termo genérico utilizado para indicar a união de dois ossos originalmente separados. No cotovelo, a sinostose rádio-umeral ou longitudinal causa importante incapacidade, que varia a depender da função da mão, da posição do cotovelo, da mobilidade das articulações adjacentes e da função do membro contralateral. Estima-se que um pouco mais de 150 pacientes foram descritos até hoje com essa deformidade, sendo mais frequente em portadores de deficiência de formação ulnar ou podendo fazer parte de síndromes como de Antley-Bixler e de Hermann. Devidoàrigidezcausadapelaausênciadaarticulaçãodocotovelo,queresultana formação de um osso mais longo com a fusão do úmero no rádio, presume-se que fratura nessa topografia não seja incomum. No entanto, pela raridade dessa patologia, tal lesão apresenta apenas duas descrições prévias na literatura. Relatamos os casos de dois pacientes com fratura do osso único formado pela sinostose entre o úmero e o rádio portadores de falha de formação ulnar do tipo IV de Bayne. Ambos os pacientes foram tratados de forma cirúrgica e evoluíram bem. Salientamos a necessidade do tratamento adequado para não comprometer as atividades da vida de um paciente já adaptado à deformidade, evitando piorar a função de um membro já alterado.


Subject(s)
Humans , Male , Child , Middle Aged , Radio , Synostosis/surgery , Congenital Abnormalities , Ulna/abnormalities
5.
Appl Neuropsychol Child ; : 1-7, 2023 Feb 25.
Article in English | MEDLINE | ID: mdl-36840597

ABSTRACT

This study aimed to determine the cognitive profile of preschool children undergoing surgery to correct non-syndromic craniosynostosis, compare them with typically developing children, and analyze possible cognitive deficits in the most prevalent subtypes: sagittal and unicoronal. Thirty-one children aged 3 years to 5 years and 11 months with non-syndromic craniosynostosis (11 sagittal, 9 unicoronal, 4 metopic, 3 lambdoid, 4 multisutural) who underwent surgery were compared with thirty-one typically developing children. The Wechsler Preschool and Primary Scale of Intelligence-Third Edition (WPPSI-III) was used to assess cognitive function. Children with non-syndromic craniosynostosis scored below the typically developing children in the Verbal Intelligence Quotient (VIQ) and Full-Scale Intelligence Quotient (FISQ). When specific subtypes were compared, children with sagittal synostosis scored similarly to the typically developing children; in contrast, children with unicoronal synostosis had lower performance in the Processing Speed Quotient and FISQ. The proportion of participants scoring below one standard deviation on the VIQ, General Language Composite, and FISQ was greater in the non-syndromic craniosynostosis group. This study supports the finding that children with non-syndromic craniosynostosis, particularly those with unicoronal synostosis, have more cognitive difficulties than those with normal development. Assessing cognition at preschool age in children with non-syndromic craniosynostosis is important in order to detect difficulties before they become more apparent at school age.

6.
Medisan ; 26(3)jun. 2022. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1405812

ABSTRACT

Se presenta el caso clínico de un lactante de 11 meses de edad, quien fue remitido a la consulta de Genética Clínica del Centro Provincial de Genética Médica de la provincia de Holguín, por presentar dismorfias faciales asociadas a retardo motor, cuello corto y disminución de movimientos. Se realizó interrogatorio, examen físico exhaustivo y estudios radiológicos de columna cervical, que mostraron la fusión de vértebras cervicales, lo cual permitió diagnosticar el síndrome de Klippel-Feil. Se proyectó habilitación con ejercicios para fortalecer los músculos paravertebrales y se brindó asesoramiento genético a la familia.


The case report of an 11 months infant is presented, who was referred to the Clinical Genetics Service of the Medical Genetics Provincial Center in Holguín province, due to facial dysmorphias associated with motor retardation, short neck and decreasing movements. Interrogation, exhaustive physical exam and radiological studies of cervical column were carried out that showed the fusion of cervical vertebras, which allowed to diagnose the Klippel-Feil syndrome. A qualification with exercises was projected to strengthen the paravertebral muscles and genetic advice to the family was provided.


Subject(s)
Infant , Klippel-Feil Syndrome , Synostosis , Cervical Vertebrae
7.
J Clin Neurosci ; 99: 73-77, 2022 May.
Article in English | MEDLINE | ID: mdl-35255360

ABSTRACT

Scaphocephaly (SC) is defined as an elongation of the anteroposterior axis of the skull resulting from the abnormal fusion of the sagittal suture. This study describes the "Peau d'ours" technique and results for correcting SC. We conducted a consecutive and retrospective analysis of patients treated from 2011 to 2016. We evaluated the gender, age, and surgical outcomes. A total of 53 patients were enrolled with a mean age of 19 months old. The advantages of this technique are healthy coronal and lambdoid suture preservation and symmetrical parietal bone flap opening. This technique is safe and simple to reproduce, allowing good surgical outcomes with a low incidence of secondary craniosynostosis. This technique is ideal for patients older than six months old.


Subject(s)
Craniosynostoses , Cranial Sutures/surgery , Craniosynostoses/surgery , Humans , Infant , Mexico , Retrospective Studies , Skull/surgery
9.
Orthop Res Rev ; 9: 101-106, 2017.
Article in English | MEDLINE | ID: mdl-30774482

ABSTRACT

Post-traumatic radioulnar synostosis is a rare complication after forearm or elbow injury that can result in loss of motion and significant disability. Risk factors include aspects of the initial trauma and of the surgical treatment of that trauma. Surgical intervention for synostosis is the standard of care and is determined based on the location of the bony bridge. Surgical timing is recommended between 6 months and 2 years with recent advocacy for the 6- to 12-month period after radiographs demonstrate bony maturation but early enough to prevent further stiffness and contractures. For most types of synostosis, surgical resection with interposition graft is recommended. The types of materials used include synthetic, allograft, and vascularized and non-vascularized materials, but currently there is no consensus on which is the most preferable. Adjuvant therapy is not considered necessary for all cases but can be beneficial in patients with high risk factors such as recurrence or traumatic brain injury. Postoperative rehabilitation should be performed early to maintain range of motion.

10.
Metro cienc ; 24(2): 59-63, 01 de Diciembre del 2016.
Article in Spanish | LILACS | ID: biblio-981968

ABSTRACT

Generalidades: la sinostosis congénita radiocubital proximal se caracteriza por un déficit de segmentación entre el radio y el cúbito que forma un puente óseo o fibroso que limita la supinación y pronación del antebrazo. Objetivo: describir de la técnica quirúrgica de osteotomía desrotadora para el tratamiento de sinostosis congénita radiocubital proximal y los resultados obtenidos en los pacientes. Materiales y métodos: entre febrero de 2013 y junio de 2015 se realizó osteotomía desrotadora para el tratamiento de sinostosis congénita radiocubital proximal en el Hospital Pediátrico Docente "Baca Ortiz" a 7 niños con un total de 12 antebrazos; 5 bilaterales y 2 unilaterales derechos; con un promedio de edad de 5 años 3 meses. El promedio de seguimiento fue de 1 año 4 meses. Los resultados incluyen el grado de fijación de pronación de la deformidad, el rango de movimiento pre y postoperatorio de supinación y pronación. Resultados: se obtuvo 9 antebrazos (75%) con resultados excelentes, 2 (16.7%) con resultados buenos y 1 (8.3%) con resultado regular. Una ganancia de rango de movimiento de supinación en promedio de 50.8º y una reducción de rango de movimiento de pronación en promedio de 85.8º. Conclusiones: la osteotomía desrotadora es una técnica quirúrgica efectiva para tratar la sinostosis congénita radiocubital proximal. (AU)


Background: The Congenital Proximal Radioulnar Sinostosis is characterized by a lack of segmentation between the radio and ulna, which constitute a osseous bridge or fibrous union that borders the supination and pronation of the forearm. Objective: To describe the surgical technique of derotational osteotomy for the treatment of Congenital Proximal Radioulnar Sinostosis, as well as evaluate the observed results in patients. Materials and Methodology: from February 2013 to June 2015, an derotational osteotomy for the treatment of Congenital Proximal Radioulnar Sinostosis was applied on seven children, for a total of twelve forearms; five bilateral, and two right unilateral; with an age average of 5 years and 3 months. The average follow-up time was 1 year and four months. The results include the degree of fixation in pronation of the deformity, the range of pre and post surgical movement of supination and pronation. Results: We obtained nine foreams (75%) with excellent results, two (16.7%) with good results and one (8.3%) with regular results. A gain in the range of movement of supination, on average, of 50,8º, and a reduction in the range of movement of pronation, on average, of 85.8º. Conclusions: The derotational osteotomy is a surgical technique effective for the treatment of Congenital Proximal Radioulnar Sinostosis.(AU)


Subject(s)
Humans , Osteotomy , Synostosis , Bone Resorption
11.
Acta neurol. colomb ; 32(3): 216-221, jul.-set. 2016. ilus, tab
Article in Spanish | LILACS | ID: biblio-827684

ABSTRACT

El ataque cerebrovascular recurrente (ACV) es una complicación rara del síndrome del opérculo torácico arterial. Presentamos un paciente de 24 años con isquemia del miembro superior derecho y ACV recurrente en territorio vertebro basilar secundario a estenosis y aneurisma de la arteria subclavia, causado por sinostosis de la primera y segunda costillas torácicas. El paciente fue tratado quirúrgicamente con costocondrectomía y escalenectomía bilateral, resección de aneurisma de la arteria subclavia derecha y anastomosis primaria. Se analizó el caso y se revisó la literatura pertinente sobre ACV y síndrome de opérculo torácico arterial.


Stroke is a rare complication of arterial thoracic outlet syndrome. We present a 24-year old man with right arm ischemia and recurrent vertebrobasilar stroke caused by synostosis of the first and second thoracic ribs. The patien was treated with supraclavicular resection of both first ribs and bilateral scalenectomy, aneurysmal resection and primary anastomosis of the right subclavian artery. We analize this case and review the pertinent literature on stroke and arterial thoracic outlet syndrome.

12.
Univ. salud ; 18(1): 182-189, ene.-abr. 2016.
Article in Spanish | LILACS | ID: lil-783688

ABSTRACT

Las craneosinostosis consisten en el cierre prematuro parcial o total de una o más suturas craneales, con una incidencia de 1 de cada 1000 a 3000 nacidos vivos, con mayor prevalencia en varones. Dentro del contexto de las craneosinostosis primaria, la escafocefalia o craneosinostosis sagital es la forma más frecuente y conocida. Al presentarse en un período de vida donde el crecimiento cráneo cerebral es muy importante, ocasiona en los niños una deformidad craneal característica que debe ser corregida, ya que en caso contrario y al ser progresiva, la afectación estética puede ser muy indeseable; las alteraciones funcionales que se pueden presentar van desde aumento de la presión intracraneana, hasta convulsiones, entre otras. Se realizó una búsqueda en bases de datos como PUDMED, RIMA, MEDLINE, MEDSCAPE de revisiones de temas, guías de manejo, artículos y análisis estadísticos, en idioma inglés, donde se encontraron 1.469 referencias. Después de una primera mirada de los artículos a través de sus resúmenes comprendidos en el periodo de tiempo año 2000 a 2014, finalmente se seleccionaron 50 artículos en texto completo abarcando el tema en su totalidad que cumplían los requisitos de búsqueda.


The craniosynostosis consist of full or partial premature closure of one or more cranial sutures, with an incidence of 1 in 1000 3000 live births, with higher prevalence in males. Within the context of primary craniosynostosis, sagittal craniosynostosis scaphocephaly or is the most common and known form. To occur over a period of life where growth cranium is very important causes in children a characteristic skull deformity should be corrected, since otherwise and being progressive, aesthetic involvement can be very undesirable; functional alterations that may occur include increased intracranial pressure, seizures and others. A search was conducted in databases such as PUBMED, RIMA, MEDLINE, Medscape reviews issues, management guides, articles and statistical analysis, in english, where they found 1,469 references. After a first look at the articles through their summaries included in the period 2000 to 2014, finally 50 articles were selected in full text covering the subject fully meeting the conditions search.


Subject(s)
Synostosis , Cranial Sutures , Craniosynostoses
13.
Childs Nerv Syst ; 32(2): 337-44, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26409882

ABSTRACT

PURPOSE: The purpose of this study was to quantify the changes in frontal morphology in patients with scaphocephaly treated with a modified Pi procedure. METHODS: Consecutive scaphocephalic patients (n = 13) who underwent surgery before 12 months of age that had more than 1 year of follow-up and standard preoperative, 3-month, and 1-year photographs were included. Anthropometric measurements were used to document the craniofacial index. Computerized photogrammetric analyses of five craniofacial angles (bossing angle, nasofrontal angle, angle of facial convexity, and angle of total facial convexity) were also performed. RESULTS: Comparisons of the preoperative and postoperative direct anthropometric measurements of the cephalic index showed a significant (all p < 0.05) increase in the postoperative period, with no significant differences in early versus late postoperative period comparisons. Comparisons of the preoperative and postoperative computerized photogrammetric measurements of the craniofacial angles showed a significant (all p < 0.05) reduction (bossing angle, angle of facial convexity, and angle of total facial convexity) and increase (nasofrontal angle) in the early and late postoperative periods. CONCLUSIONS: Frontal morphology significantly changed over the first year of the modified Pi procedure.


Subject(s)
Craniosynostoses/surgery , Craniotomy/methods , Facial Bones , Frontal Bone , Photogrammetry , Female , Follow-Up Studies , Humans , Infant , Male , Neurosurgical Procedures , Prospective Studies , Treatment Outcome
14.
Am J Med Genet A ; 170A(2): 403-409, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26566760

ABSTRACT

Approximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report a girl and a boy with craniosynostosis, developmental delay and other congenital anomalies. Karyotyping and molecular analysis including Multiplex Ligation dependent probe amplification (MLPA) and Array Comparative Genomic Hybridization (aCGH) were performed in both patients. We detected a 13.1 Mb pure deletion at 10q26.12-q26.3 in the girl and a 10.9 Mb pure deletion at 10q26.13-q26.3 in the boy, both encompassing about 100 genes. The clinical and molecular findings in these patients reinforce the importance of the DOCK1 smallest region of overlap I (SRO I), previously suggested to explain the clinical signs, and together with a review of the literature suggest a second 3.5 Mb region important for the phenotype (SRO II). Genotype-phenotype correlations and literature data suggest that the craniosynostosis is not directly related to dysregulated signaling in suture development, but may be secondary to alterations in brain development instead. Further, genes at 10q26 may be involved in the molecular crosstalk between brain and cranial vault.


Subject(s)
Brain/abnormalities , Chromosome Deletion , Chromosomes, Human, Pair 10/genetics , Craniosynostoses/etiology , Learning Disabilities/etiology , Sutures/adverse effects , Adult , Brain/pathology , Comparative Genomic Hybridization , Craniosynostoses/pathology , Facies , Female , Humans , Infant, Newborn , Learning Disabilities/pathology , Male , Prognosis
15.
Rev. argent. radiol ; 77(4): 0-0, dic. 2013. ilus, tab
Article in Spanish | LILACS | ID: lil-750617

ABSTRACT

Las sinostosis tarsales son uniones fi brosas, cartilaginosas u óseas entre dos o más huesos del tarso, que modifi can la biomecánica del pie y pueden producir dolor. Reportamos el caso de un paciente pediátrico con metatarsalgia bilateral al que se le diagnosticó una fusión ósea completa entre la base del cuneiforme intermedio y el segundo metatarsiano en ambos pies. Al respecto, existen escasos reportes en la literatura. Las sinostosis cuneo-metatarsianas deben ser consideradas entre los dignósticos diferenciales de la metatarsalgia en niños.


Tarsal coalitions are fi brous, cartilaginous or bony unions between two or more tarsal bones that change the biomechanics of the foot and can cause pain. We report the case of a pediatric patient with bilateral metatarsalgia, who was diagnosed with a complete osseous coalition between the second metatarsal base and the second cuneiform. There are few reports in the literature. Cuneo-metatarsal synostosis should be considered in the differential diagnosis of metatarsalgia in children.

16.
Rev. mex. ing. bioméd ; 34(2): 157-173, Apr. 2013. ilus, tab
Article in Spanish | LILACS-Express | LILACS | ID: lil-740154

ABSTRACT

En este trabajo se presenta un nuevo conjunto de indicadores de severidad que combinan diversos rasgos craneales para cuantificar las craneosinostosis aisladas de tipo sagital y metópica. La utilidad de los indicadores se evaluó examinando las tomografías computarizadas del cráneo de un grupo de infantes afectados por craneosinostosis aislada y un grupo de infantes no afectados. La base de datos contiene estudios de 90 pacientes con craneosinostosis sagital, 40 con craneosinostosis metópica y 60 pacientes no afectados. Los indicadores de severidad se obtienen a partir de un conjunto de indices de severidad por medio de un método estadístico de regresión logística regularizada conocido como red elástica. Los índices de severidad son medidas univariadas de forma que se calculan a partir de tres planos de análisis. Los planos se estiman a partir de referencias anatómicas cerebrales radiológicamente identificables. El desempeño de los indicadores se midió estimando el grado de separación lineal (GSL), que cuantifica la capacidad de un indicador para distinguir cráneos sagitales o metópicos de cráneos no afectados. Los indicadores de severidad propuestos alcanzan un GSL del 95.83% y 98.9% en las poblaciones sagitales vs. controles y metópicos vs. controles, respectivamente. Los resultados obtenidos en este trabajo sugieren que es posible construir indicadores multivariables de severidad que son clínicamente reproducibles y cuantifican efectivamente aspectos de la morfología craneal codificada por medio de un conjunto de índices de severidad.


This work develops a new set of severity scores that combine several cranial features in order to quantify sagittal and metopic craniosynostosis. Computed tomography head scans were obtained from 90 children affected with single-suture sagittal synostosis, 40 children with single-suture metopic synostosis, and 60 age-matched nonsynostotic controls. Tridimensional reconstructions of the skull were used to trace image analysis planes defined in terms of skull-base plane and internal landmarks. For each patient, a new set of descriptive measures or severity indices of skull shape malformation were computed. A statistical classification approach (regularized logistic regression) was used for combining individual severity indices into summarizing severity scores. The linear separation index that measures the ability of a classification function to separate the affected (sagittal or metopic) and nonsynostotic populations was used to evaluate the severity scores. The proposed scores are sensitive measures of the calvarial malformation that achieve linear separation indices of 95.83% and 98.9% for sagittal vs. control and metopic vs. control populations, respectively. As opposed to individual severity indices, the summarizing severity scores encapsulate a number of distinctive calvarial features associated with sagittal and metopic synostoses crania. The proposed scores enable quantitative analysis in clinical settings of skull features observed in isolated sagittal and metopic synostoses that may not be accurately detected by separate analysis of individual severity indices.

17.
Medicina (Guayaquil) ; 16(4): 301-306, 2011.
Article in Spanish | LILACS | ID: lil-652667

ABSTRACT

El síndrome de sinostosis espondilocarpotarsal es un desorden genético muy raro, ocasionado por la mutación del gen de la Filamina B que produce una displasia esquelética. Se hereda de forma autosómica recesiva y en el mundo entero se han reportado apenas 25 casos desde que fue descrito por primera vez. El objetivo de este trabajo es resaltar la importancia de la consanguinidad como factor de riesgo de las enfermedades genéticas recesivas y contribuir con la escasa bibliografía existente a nivel mundial. Se presenta un paciente masculino de 21 años de edad con inteligencia normal que se manifiesta clínicamente con un dismorfismo facial leve, cifoescoliosis severa, luxación de cadera y tobillos bilaterales, hipoacusia neurosensorial, retinitis pigmentaria y ameliogénesis imperfecta. Proviene de padres y abuelos consanguíneos de tercer grado. Debido a la rareza de esta enfermedad, este paciente no fue diagnosticado por sus tratantes y si bien es cierto no existe cura para ella, es importante su reconocimiento oportuno para evitar complicaciones y decidir el tratamiento adecuado.


Espondilocarpotarsal synostosis syndrome is a very rare genetic disorder, caused by the mutation of the filamin B gene which produces a skeletal dysplasia. It is inherited in an autosomal recessive form, and in the world there have been only 25 cases reported since it was first described. The objective of this paper is to highlight the importance of consanguinity as a risk factor for recessive genetic diseases and to contribute to the scarce literature on this topic worldwide. We present a male patient, 21 years of age with normal intelligence clinically showing mild facial dysmorphism, severe kyphoscoliosis, hip and bilateral ankle dislocation, sensorineural hearing loss, retinitis pigmentosa, and ameliogenesis imperfecta. His parents and grandparents are third-degree blood relatives. Due to the rarity of this disease, this patient was not diagnosed by his physicians, and although there is no cure for it, its early recognition is important to avoid complications and to decide on the appropriate treatment.


Subject(s)
Male , Young Adult , Congenital Abnormalities , Genetic Diseases, Inborn , Infant, Newborn, Diseases , Synostosis , Consanguinity
18.
Int. j. morphol ; 27(2): 469-473, June 2009. ilus
Article in English | LILACS | ID: lil-563096

ABSTRACT

The observation of the stage of ossification of the sagittal suture has been adopted as possible approach of age evaluation in anthropology and legal medicine, as area of cranial pathologies: craniosynostosis and scaphocephaly and as diagnosis resource in tomographies. Regarding it, we found many controversies in the specialized literature, thus we decided to accomplish this research with the following objectives: to examine the ossification of the external surface of the sagittal suture, observing eventual differences due to age, sex and ethnic group. Our material consists of 88 dry craniums of variable ages, both sexes belonging to the ethnic groups: white and black. In that material we observed that: with progression of age, the relation between age and stage of ossification of the sagittal suture stops existing. The statistical analysis didn't demonstrate significant differences between sexes and ethnic groups in the stages of ossification of the sagittal suture. The ossification of the sagittal suture starts developing from the posterior third.


La observación de los estados de osificación de la sutura sagital han sido adoptados como posibles criterios de evaluación de la edad en Antropología y Medicina Legal, como un área de patologías craneales: craneosinostosis, escafocefalia y como recursos diagnóstico en tomografias. Encontramos muchas controversias en la literatura especializada, por lo tanto, decidimos realizar esta investigación con el objetivo de examinar la osificación de la superficie externa de la sutura sagital, observando eventuales diferencias debidas a la edad, sexo y grupo étnico. Nuestro material se componía de 88 cráneos secos de individuos de diferentes edades, de ambos sexos, pertenecientes a los grupos étnicos blancos y negros. En el material se observó: progresión de la edad y relación entre la edad y la etapa de osificación de la sutura sagital. El análisis estadístico no demostró diferencias significativas entre sexos y grupos étnicos en las etapas de la osificación de la sutura sagital. La osificación de la sutura sagital comienza a producirse desde el tercio posterior.


Subject(s)
Humans , Male , Adolescent , Adult , Female , Middle Aged , Aged, 80 and over , Skull/anatomy & histology , Superior Sagittal Sinus/anatomy & histology , Cranial Sutures/anatomy & histology , Cranial Sutures/physiology , Age Factors , Cultural Factors , Osteogenesis/genetics
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