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Inherited form of short-limbed dwarfism often seen among the Old Order Amish community in Lancaster County, Pennsylvania (USA).

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Chondroectodermal Dysplasia; Mesoectodermal Dysplasia Syndrome.

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Genetic skeletal dysplasia first described by Richard W.B. Ellis (1902-1966) from Edinburgh and Simon van Creveld (1895-1971) from Amsterdam. Together with Jeune Syndrome, it is grouped into the nonlethal short rib-polydactyly syndromes.

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Approximately 250 cases have been described. No sexual predilection has been reported.

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Autosomal recessive with linkage of the Ellis-van Creveld (EVC) phenotype to genetic markers on the short arm of chromosome 4p16.

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Unknown; however, the cartilage of long bones and vertebrae of fetuses with EVC syndrome shows disorganization of the chondrocytes in the physeal growth zone and retardation of the short columellar arrangements in the physis.

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Dwarfism with profound shortening of the distal parts of the extremities (mesomelic shortening), already identifiable at birth. Skeletal histopathology via fetoscopy and ultrasound can be used for prenatal diagnosis.

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Features may include micrognathia, polydactyly, and abnormalities of the ectoderm (onychodystrophy, anomalies in the upper lip variously called “partial hare lip” or “lip tie,” and cleft lip/palate), and dysodontiasis (congenital teeth, partial anodontia, malpositioned teeth). Of particular importance are the presence of cardiac malformations in 60% of affected patients (commonly a septal defect or single atrium). Respiratory distress is frequent in neonates as a result of hypoplastic lungs within a narrow dysplastic thorax with extremely short ribs. Hypoplasia of the tracheobronchial cartilage tends to result in collapse of the tracheobronchial tree causing tension lobar emphysema and may further exacerbate any respiratory compromise. Dandy-Walker malformation, hydrocephalus, and mental retardation occur occasionally. Genital anomalies are common (epispadias and hypospadias, cryptorchism, megaureter, hydronephrosis, renal agenesis). Management consists of dental care, plastic surgery for treatment of polydactyly, and correction of cardiac defects.

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Assess the airway for difficult management secondary to the presence of cleft lip/palate and micrognathia. Check for cardiac lesions including cor pulmonale (clinical examination, electrocardiography, and echocardiography). Evaluate for signs of airway collapse (stridor) and assess pulmonary function (clinical examination, chest radiographs, arterial blood gas analysis, and pulmonary function tests). Assess renal function (serum concentrations of electrolytes, creatinine, and urea). Check for signs of increased intracranial pressure.

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Intravenous access can be difficult secondary to excessive lax skin and subcutaneous tissue. If difficult airway management is suspected, spontaneous ventilation should be maintained until the airway has been secured. In patients with pulmonary hypertension, anesthetic management should aim to avoid any further increase in pulmonary artery pressure (avoid acidosis, hypercarbia, and hypoxia). Ventilation may require assistance to some degree during an induction with maintained spontaneous ventilation to prevent significant hypercapnia with consequently increased pulmonary vascular resistance (PVR). The patient's weight rather than the age best predicts endotracheal tube size. Airway collapse as a result of bronchial cartilage hypoplasia may complicate general anesthesia. Avoid high airway pressures during controlled ventilation to minimize barotrauma ...

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