Prevalence of congenital malformations and deformities of the osteomuscular system in live newborns in Mexico, 2008-2017.

BACKGROUND: From 2009 to 2010 in Mexico. CMDOMS prevalence was 27.4/10,000 births. The first places were congenital deformation of the feet with a prevalence of 8.0 and congenital deformation of the hip with 6.7/10,000 births. OBJECTIVE: To estimate for Mexico the national prevalence of CMDOMS in live births, by state and municipality, as well as to analyze spatial distribution by these same territorial delimitations. METHOD: A database of 20,175,422 newborns (NB) alive from 2008 to 2017 was integrated. Percentages and prevalence were calculated at the national level, federal entities and municipalities, with confidence intervals at 95%. Maps were made and prevalence was stratified. RESULTS: The congenital malformation prevalence rate was 77.8/10,000 NB. CMDOMS were in first place with 40.8% and a prevalence of 31.8/10,000 NB. Prevalence by federal entity presented a range of 8.0-75.8/10,000 NB, were stratified by states and municipalities for presentation on maps. CONCLUSION: In Mexico for the years 2008-2017 an increase in CMDOMS prevalence was observed globally and in particular of some specific causes.

ANTECEDENTES: En México, de 2009 a 2010, la prevalencia de las malformaciones y deformidades congénitas del sistema osteomuscular (MDCSOM) fue de 27.4 por 10,000 nacimientos. Los primeros lugares los ocuparon la deformación congénita de los pies, con una prevalencia de 8.0, y la deformación congénita de la cadera, con 6.7 por 10,000 nacimientos. OBJETIVO: Estimar para México la prevalencia nacional de MDCSOM en nacidos vivos (NV), por entidad federativa y municipio, y analizar su distribución espacial por esas mismas delimitaciones territoriales. MÉTODO: Se integró una base de datos de 20,175,422 NV en 2008-2017. Se calcularon porcentajes y prevalencias por ámbito nacional, entidades federativas y municipios, con intervalos de confianza al 95%. Se elaboraron mapas y se estratificaron las prevalencias. RESULTADOS: La tasa de prevalencia de malformaciones congénitas fue de 77.8 por 10,000 NV. Se ubicaron en el primer lugar las MDCSOM, con un 40.8% y una prevalencia de 31.8 por 10,000 NV. Las prevalencias por entidad federativa presentaron un rango de 8.0 a 75.8 por 10,000 NV; se estratificaron por estados y municipios para su presentación en mapas. CONCLUSIÓN: En México, para los años 2008-2017, se observa un incremento en las prevalencias de las MDCSOM en forma global y en particular por algunas causas específicas.

Expanding the phenome and variome of skeletal dysplasia.

PURPOSE: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized. METHODS: Detailed phenotyping and next-generation sequencing (panel and exome). RESULTS: Our analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average. CONCLUSION: By expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

Klippel-Trenaunay syndrome (KTS), originally described as a triad of cutaneous capillary malformation, bone and soft-tissue hypertrophy, as well as venous and lymphatic malformations, has been considered by dermatologists as a distinct diagnostic entity. However, cases with KTS have also been reported to have neurological disorders, developmental delay and digital abnormalities, indicating multisystem involvement. Recently, a number of overgrowth syndromes, with overlapping phenotypic features with KTS, have been identified; these include MCAP and CLOVES syndromes as well as fibroadipose hyperplasia. These conditions harbour mutations in the PIK3CA gene, and they have been included in the PIK3CA-related overgrowth spectrum (PROS). Based on recent demonstrations of PIK3CA mutations also in KTS, it appears that, rather than being a distinct diagnostic entity, KTS belongs to PROS. These observations have potential diagnostic and therapeutic implications for KTS.

Diagnosis and classification of adult Still's disease.

The cornerstone of adult onset Still's disease is the triad of daily fever, arthritis and rash. This syndrome remains enigmatic and most often a disease of exclusion. There are both musculoskeletal as well as systemic features. More importantly, reactive hemophagocytic syndrome may occur in patients. In this review we attempt to place this syndrome in perspective, including data on geoepidemiology, clinical and laboratory features.

Muscle abnormalities of the chest in Poland's syndrome: variations and proposal for a classification.

PURPOSES: Poland's syndrome (PS) is a rare congenital malformation, which combines anomalies of the chest and the homolateral upper limb. The purposes of the paper are to study the chest musculoskeletal malformations of the syndrome and propose a classification for the thoracic anomalies through our experience and taking into account the literature. METHODS: We reviewed ten patients diagnosed with PS. All of them suffered from anomalies of the thorax and the ipsilateral upper extremity. We proceeded to scan the thorax with 3-D CT for better imaging of the structures and examination of the variations. RESULTS: All patients were young to middle aged: seven women and three men. Both sides of the body were affected to the same extent. Six patients presented with total absence of the pectoralis muscles and variable anomalies of the thoracic skeletal structures. Hypoplasia of the minor pectoralis and retraction of the ribs were observed in two patients, while the two other patients presented with major and minor pectoralis absence as well, except for the clavicular head. CONCLUSIONS: There are many variations of PS with regard to the chest that can be best detected with 3-D CT imaging, which should be used whenever it is available. We propose a simple classification of the musculoskeletal anomalies of the chest in Poland's syndrome that would be a useful tool for the clinicians and especially plastic surgeons to make an easy diagnosis. In combination with 3-D CT imaging, surgeons will be able to achieve the best treatment for each patient.

Thoracic defects: cleft sternum and Poland syndrome.

Defects of the thoracic cage with bone and/or muscle deficit are relatively rare and can present a real risk depending on the severity of manifestations. Cleft sternum results from failed midline fusion of the sternal halves that leaves the heart and great vessels unprotected, and is commonly associated with craniofacial hemangiomas. Correction is recommended during the neonatal period when compliant thorax allows direct suturing of the divided sternum. Sternal foramen requires precaution during biopsy and acupuncture as well as forensic awareness. In addition to the thoracic defect, Poland syndrome can be associated with hand anomalies, dextrocardia, renal agenesia, and various tumors. Age and gender, together with the degree of the defect, define the method of surgical correction.

Clinical features and classification of bipartite or tripartite patella.

The purposes of this study were to report clinical features of the developmental anomaly of ossification type bipartite or tripartite patella using a large series and to propose a new classification for the developmental anomaly of ossification type bipartite or tripartite patella. The first author prospectively examined 111 patients with symptomatic or asymptomatic bipartite (131 knees) or tripartite (8 knees) patellae. Eighty-six (77%) were male and 25 (23%) were female. Forty-three patients (39%) showed right knee involvement and 40 (36%) showed left, while 28 (25%) showed involvement in both knees. Forty-six bipartite and 4 tripartite patellae (36%) were symptomatic and 85 bipartite and 4 tripartite patellae (64%) were asymptomatic at initial examination. The median age at onset of pain of symptomatic patients (50 knees) was 15.6 ± 8.1 years (range, 10-51 years). The most common symptom was pain at the separated fragments during or after strenuous activity in all 50 knees. Physical examination revealed localized tenderness over the separated fragments in all 50 knees. Bipartite or tripartite patellae were classified by evaluating location and number of fragments. One hundred fifteen knees (83%) were classified as supero-lateral bipartite type, 16 (12%) were lateral bipartite type, 6 (4%) were supero-lateral and lateral tripartite type, and 2 (1%) were supero-lateral tripartite type. For the developmental anomaly of ossification type bipartite or tripartite patella, a classification based on both location and number of fragments is simple and easy to understand and applicable to all types of bipartite or tripartite patella.

Prevalence of pectus carinatum and pectus excavatum in students in the city of Manaus, Brazil.

OBJECTIVE: To determine the prevalence of congenital anterior chest wall deformities in 11- to 14-year-old students. METHODS: Students participating in the study were recruited from public schools in the city of Manaus, Brazil. The statistically significant sample (precision, 1%; 95% CI) comprised 1,332 students. Pectus deformities were identified by physical examination of the chest, and the individuals with one of these deformities completed a questionnaire regarding heredity and symptoms resulting from the chest abnormality. RESULTS: The mean age of the participants was 11.7 years. The prevalence of pectus abnormalities was 1.95% (pectus excavatum: 1.275%; pectus carinatum: 0.675%). Of the 26 students with a pectus deformity, 17 (65.4%) had pectus excavatum, and 18 (69.2%) were male. Concomitant scoliosis was observed in 3 cases (11.5%). A family history of pectus was reported by 17 students (65.4%), and 17 (65.4%) reported chest pain, dyspnea or palpitations. CONCLUSIONS: In this study, the prevalence of pectus deformities (1.95%) was lower than that reported in other studies conducted in Brazil (3.6-4.9%) but was higher than that reported in the literature (mean, 1%).

Prevalência de pectus carinatum e pectus excavatum em escolares de Manaus / Prevalence of pectus carinatum and pectus excavatum in students in the city of Manaus, Brazil

OBJETIVO: Determinar a prevalência das deformidades congênitas da parede torácica anterior em escolares de 11 a 14 anos. MÉTODOS: Participaram do estudo escolares da rede estadual de ensino da cidade de Manaus (AM). Para a composição de uma amostra estatisticamente significativa, com precisão de 1 por cento e IC95 por cento, foram incluídos 1.332 escolares. A deformidade pectus foi identificada através de exame físico do tórax, e os indivíduos com esta deformidade responderam a um questionário com questões sobre hereditariedade e sintomatologia decorrente da anomalia torácica. RESULTADOS: A idade média dos participantes foi de 11,7 anos. A prevalência da deformidade pectus foi de 1,95 por cento (pectus excavatum: 1,275 por cento; pectus carinatum: 0,675 por cento). Dos 26 escolares com deformidades pectus, 17 (65,4 por cento) tinham pectus excavatum, e 18 (69,2 por cento) eram do sexo masculino. Houve associação com a escoliose em 3 casos (11,5 por cento). História familiar de pectus foi relatada por 17 escolares (65,4 por cento), e 17 (65,4 por cento) relataram dor torácica, dispneia ou palpitações. CONCLUSÕES: A prevalência das deformidades pectus encontrada neste estudo (1,95 por cento) foi inferior àquela de trabalhos em outras regiões do país (3,6-4,9 por cento), porém, superior àquela relatada na literatura (média, 1 por cento).

OBJECTIVE: To determine the prevalence of congenital anterior chest wall deformities in 11- to 14-year-old students. METHODS: Students participating in the study were recruited from public schools in the city of Manaus, Brazil. The statistically significant sample (precision, 1 percent; 95 percent CI) comprised 1,332 students. Pectus deformities were identified by physical examination of the chest, and the individuals with one of these deformities completed a questionnaire regarding heredity and symptoms resulting from the chest abnormality. RESULTS: The mean age of the participants was 11.7 years. The prevalence of pectus abnormalities was 1.95 percent (pectus excavatum: 1.275 percent; pectus carinatum: 0.675 percent). Of the 26 students with a pectus deformity, 17 (65.4 percent) had pectus excavatum, and 18 (69.2 percent) were male. Concomitant scoliosis was observed in 3 cases (11.5 percent). A family history of pectus was reported by 17 students (65.4 percent), and 17 (65.4 percent) reported chest pain, dyspnea or palpitations. CONCLUSIONS: In this study, the prevalence of pectus deformities (1.95 percent) was lower than that reported in other studies conducted in Brazil (3.6-4.9 percent) but was higher than that reported in the literature (mean, 1 percent).

Antenatal detection of skeletal dysplasias.

OBJECTIVE: To assess the accuracy of the prenatal diagnosis of skeletal dysplasias. METHODS: All antenatally detected anomalies are coded in our ultrasound database, which is linked with a genetics database that includes outcomes. A final diagnosis is sought on the basis of radiographic studies, molecular testing, or both. Our ultrasound and genetics databases were queried for "skeletal dysplasias." All cases were reviewed specifically for the degree of bone shortening and other distinguishing characteristics on antenatal sonography. RESULTS: Thirty-seven cases of skeletal dysplasia were antenatally diagnosed over an 8-year period. Complete follow-up was available in 31 cases. The mean gestational age at diagnosis was 22.7 weeks (range, 14-32.3 weeks). Twenty-one cases were diagnosed before 24 weeks. A final diagnosis was obtained in 80% of cases. The antenatal diagnosis was correct in 20 (65%) of 31 cases. There were 2 false-positive diagnoses. Specific final diagnoses included thanatophoric dysplasia (8), osteogenesis imperfecta (6), Roberts syndrome (2), achondroplasia (3), Ellis-van Creveld syndrome (1), metaphyseal dysplasia (1), spondyloepiphyseal dysplasia (1), distal arthrogryposis (1), caudal regression (1), and glycogen storage disorder (1). The condition was correctly thought to be lethal in 16 of the fetuses on the basis of early severe long bone shortening (13), femur length-abdominal circumference ratio of less than 0.16 (12), hypoplastic thorax (10), marked bowing or fractures (4), short ribs (4), caudal regression (1), and cloverleaf skull (1). The ability to predict lethality was 100%. There were no false-positive findings with respect to lethality. CONCLUSIONS: Accurate antenatal diagnosis of skeletal dysplasias is problematic; in this series, only 20 of 31 cases were correctly diagnosed. However, the antenatal prediction of lethality was highly accurate. The most common predictors of lethal skeletal dysplasias included early and severe shortening of the long bones, femur length-abdominal circumference ratio of less than 0.16, hypoplastic thorax, and certain distinguishing characteristics.

Pouter pigeon breast.

Pouter pigeon breast is a rare congenital deformity of the chest characterized by a protrusion of the manubriosternal junction and premature sternal ossification. The adjacent costal cartilages, usually from the second to fifth, also protrude. One third of the patients with pouter pigeon breast presented with concomitant depression of the lower third of the sternum. Several cardiovascular abnormalities have been associated with premature sternal ossification, with ventricular septal defect being the most common. All patients with pouter pigeon breast should undergo echocardiography in search of occult cardiac lesions. The measurement of the angle of Louis on lateral chest radiograms allows the objective assessment of the deformity and appreciation of the sternal fusion. Surgical correction includes the wide wedge transverse sternotomy at the angle of Louis and subperichondrial resection of the adjacent costal cartilages. When the deformity is part of a syndrome or in cases of severe depression of the lower sternum, we recommend the technique using Marlex mesh support as described by Robicsek. Preferable age for repair is 5 to 7 years old. Long-term outcomes are encouraging.

Protrusion and mixed deformities.

BACKGROUND: Considerable confusion is encountered in the literature relating classification respectively surgical repair of the anterior chest wall deformities in view of the asymmetric types which are arbitrarily ranged in one of the two main groups (impressions, protrusions). METHODS: Out of 420 operations 89 (21%) were performed for pure protrusion, and 64 (15%) for mixed deformities, with asymmetric impression and protrusion present at the same time. Mixed deformities were limited to the parasternal area in 10 and extended to the entire anterior chest wall in 54 cases. Surgery was undertaken for both protrusion and mixed deformities beyond 10 years of age in 9.8%, while for a typical funnel chest deformity in 31% (p<0.001). Correction has been achieved performing double subperichondral excisions of the distorted cartilages and - if necessary - subperiosteal wedge incision of the bony segments, completed by a T shape wedge sternal incision. In order to preserve the repaired position a stainless steel stabiliser was introduced for one year behind the sternum and the entire mobilised wall area. RESULTS AND CONCLUSIONS: This method was used hitherto in 60 patients with mixed, respectively severe funnel chest deformities without any complication. The "pectus index" calculated according to the equation A/Bx100, in which A is the internal sterno-vertebral distance and B is the transverse diameter of the chest at the level of the diaphragms in cm (normal values: 35%-45%) was followed for 7.6+/-4.5 years in 63 patients. The preoperative 53+/-7.6% decreased to 44.2+/-6.3% (p<0.05).

Craniovertebral junction anomalies: diagnosis and management.

The craniovertebral junction is the most complex of the axial skeleton, residing between the skull and the upper cervical spine. Congenital, developmental, and acquired bony abnormalities result in compression and distortion of the neural structures, the vertebrobasilar vascular system, and the cerebrospinal fluid channels. The clinical significance of this has only been recently recognized, and mistaken diagnoses have led to a delayed treatment and at times adverse results. A review of the anatomy, the embryology, and the mechanics of this region is essential to the understanding of the pathophysiology encountered.

Deformidad de Sprengel / Sprengelïs deformity

Se evaluaron 11 pacientes con sindrome de Sprengel, tratados quirurgicamente con la tecnica de Woodward, en el Centro de Escoliosis del Hospital de Niños "Dr. Ricardo Gutierrez". Se realizan consideraciones sobre la embriologia, patologia, evaluacion clinica y tratamiento quirurgico de este tipo de deformidad vertebral