Manu Kundra, MD

A 13-year-old Hispanic boy presented to emergency department with a 1-day history of red eyes. The eye changes were not associated with vision changes, increased tearing, discharge, pain, fever, or trauma.

The boy's parents reported that the patient had multiple episodes of vomiting and diarrhea for 4 days when he and his family returned home after a few weeks in Mexico.

On examination, we found a well-developed alert boy in no distress. Results of the systemic examination were completely normal except for extensive "redness" of his eyes (

). Eye examination revealed extensive bilateral subconjunctival hemorrhage without eye discharge, photophobia, or limitation of eye movement. Fundus findings and visual acuity were normal.

A number of conditions can cause subconjunctival hemorrhage (SCH) in children. These include:

Blunt or any penetrating injury can directly cause SCH. Asphyxiating trauma can also cause petechial hemorrhages in the head and neck along with SCH.

When SCH is detected in infants and young children, a thorough clinical examination is warranted. Evidence of non-accidental trauma or child abuse may be revealed.

 A funduscopic examination is indicated to check for retinal hemorrhages.

Eye infections, especially conjunctivitis, can lead to SCH. Symptoms in conjunctivitis may include itching, watering, photophobia, and eye discharge (purulent or non-purulent). Chemosis may also be present.

Conjunctivitis associated with symptoms of cough, cold, and upper respiratory tract infection usually has a viral cause. Otitis media with concurrent conjunctivitis (otitis-conjunctivitis syndrome) is often caused by 

 Community-wide epidemics of viral conjunctivitis with consequent SCH have been reported.

 and respiratory tract viral infections are the chief viral causes of conjunctivitis that may lead to SCH.

 are the leading causes of bacterial conjunctivitis.

Anticoagulant therapy and thrombocytopenia can lead to SCH.

Straining during sneezing, coughing (pertussis, pertussis coughing),

 can all cause SCH. SCH can develop in the newborn after normal vaginal delivery: the hemorrhages resolve spontaneously.

Therapy involves the identification and treatment of the underlying condition (eg, bacterial conjunctivitis, herpetic infection, or bleeding diathesis). SCH secondary to elevated intraocular pressure usually resolves spontaneously within a few days to a week once the underlying cause is addressed. Symptoms such as vomiting, coughing, and retching should be appropriately managed whenever identified.

As noted, our patient had no other eye symptoms (ie, lacrimation, photophobia, or vision changes) and clinical examination findings were normal. The SCH was thought to be the result of excessive vomiting and retching, which led to an intraocular pressure rise and subsequent rupture of the small vessels in the conjunctiva. The patient was hospitalized for acute gastroenteritis; as the vomiting and diarrhea resolved, the hemorrhages spontaneously resolved within a few days.

 Yeong EK, Chen MT, Chu SH. Traumatic asphyxia. 

 Kleemann WJ, Wiechern V, Schuck M, Troger HD. Intrathoracic and subconjunctival petechiae in sudden infant death syndrome (SIDS). 

 Buznach N, Dagan R, Greenberg D. Clinical and bacterial characteristics of acute bacterial conjunctivitis in children in the antibiotic resistance era. 

 Kosrirukvongs P, Kanyok R, Sitritantikorn S, Wasi C. Acute hemorrhagic conjunctivitis outbreak in Thailand, 1992. 

Southeast Asian J Trop Med Public Health. 

 Aoki K, Kawana R, Matsumoto I, et al. Viral con-junctivitis with special reference to adenovirus type 37 and enterovirus 70 infection. 

 Martins MG, Matos KT, da Silva MV, de Abreu MT. Ocular manifestations in the acute phase of leptospirosis. 

 Sodhi PK, Jose R. Subconjunctival hemorrhage: the first presenting clinical feature of idiopathic thrombocytopenic purpura. 

 Superstein R, Gomolin JE, Hammouda W, et al. Prevalence of ocular hemorrhage in patients receiving warfarin therapy. 

 Groomer AE, Terry JE, Westblom TU. Subconjunctival and external hemorrhage secondary to oral anticoagulation.

 Reisli I, Keles S, Kamis U, et al. Picture of the month: coughing paroxysms associated with subconjunctival hemorrhage and dellen. 

 Weinstein HD, Halabis JA. Subconjunctival hemorrhage in bulimia.

12.Katzman GH. Pathophysiology of neonatal subconjunctival hemorrhage. 

Articles

Case In Point: Subconjunctival Hemorrhages in a Teenage Boy

Chest pain in children evokes anxiety in patients and their parents--and prompts frequent visits to the pediatrician's office, urgent care facility, or emergency department (ED). In a prospective study, Selbst and colleagues

 reported that chest pain accounted for 6 in 1000 visits to an urban pediatric ED.

Pediatric chest pain is often benign. Studies have shown that without a specific indication, routine tests--including echocardiography and exercise stress testing--are of no benefit in determining the cause of chest pain.

 Nevertheless, chest pain is one of the leading reasons for referral to a cardiologist.

Here we provide a comprehensive review of the causes of chest pain in children. We also suggest a clinical approach to the evaluation, diagnosis, and management of pediatric chest pain (

). Such an approach will help ensure that unnecessary investigations are avoided and rare but potentially life-threatening disorders are identified.

Chest pain in children is rarely the result of cardiac abnormalities or life-threatening conditions.

 Chest pain may be associated with pathology of any of the pain-sensitive structures in the chest, neck, and abdomen. It may arise from the chest wall, lungs (pleura), heart, mediastinum, esophagus, or trachea, and it has no sex predilection.

 Structures in the chest wall are the most common source of chest pain in children.

 Muscle injuries or strain in the pectoral, shoulder, or back muscles secondary to trauma or physical activity are frequent causes of chest pain. Repeated use of chest wall muscles during protracted coughing leads to muscle discomfort from strain.

Costochondritis usually presents as chronic sharp pain in the anterior chest wall that may radiate to the back or abdomen. The pain is exacerbated by deep breathing and physical activity and may be preceded by upper respiratory infections or exercise. Pain related to costochondritis may last for months; typically, it is reproducible by the application of pressure at the costochondral junction. Infections from coxsackie virus may also cause chest pain (pleurodynia). Herpes zoster (shingles) causes pain in the chest wall that may precede the typical vesicular rash eruption.

 Patients with pleuritis have sharp chest pain that makes them catch their breath. Deep breathing and coughing usually exacerbate the pain. Pleuritic pain is sometimes referred to the abdomen and shoulder because of the common sensory nerve supply.

 A rub may or may not be audible on chest auscultation.

Pneumothorax, another cause of chest pain of acute onset, may be spontaneous or secondary to lung pathology or trauma. The patient usually presents with breathlessness and pain of variable severity. Spontaneous pneumothorax is more common in children and adolescents who have marfanoid features (tall, thin build and arachnodactyly).

 Acute asthma exacerbations may also cause chest pain.

 Inflammation of the upper GI tract (gastritis, esophagitis) accounts for 5% to 10% of pediatric chest pain.

 The pain typically is located retrosternally and is aggravated when the child eats or leans forward. Gastritis often coexists with esophagitis and is a more likely diagnosis if the child is taking oral cortico- steroids or NSAIDs. Also consider the possibility of foreign-body impaction in the esophagus, especially in younger children or in children with developmental delays.

Cholecystitis and choledocholithiasis may be seen in obese adolescents and patients with hematologic disorders such as sickle cell disease and hereditary spherocytosis. This pain is often localized to the epigastrium, lower right rib cage, back, or right shoulder.

Hepatitis is often associated with pain in the right upper quadrant of the abdomen. Reproducible tenderness may be noticed in the intercostal spaces of the overlying chest wall.

Chest pain attributable to cardiovascular lesions occurs in only about 4% to 6% of children with chest pain

 but is the scenario that is most feared by the patient, family, and pediatrician. Although such lesions are potentially life-threatening, early identification can prevent morbidity and mortality. Be especially vigilant with children who have a history of such disorders as Kawasaki disease and aortic valve stenosis. These conditions may present with symptoms and laboratory and ECG findings that suggest myocardial infarction.

 causes a stabbing, sharp pain that may worsen when the patient is supine and improve with sitting. The presence of a frictionrub is a useful but variable sign in acute pericarditis. Larger fluid collections in the pericardium may lead to absence of a rub, and muffled and distant heart sounds may be the only auscultatory findings. Still larger collections may lead to cardiac tamponade with neck vein distention, narrow pulses, tachypnea, and tachycardia. Pulsus paradoxus can be elicited in patients with cardiac tamponade.

Typical ECG findings include generalized low voltage from the damping effect of fluid. Generalized ST-segment elevation may result from fluid pressure on the myocardium. Electrical alternans, characterized by variable QRS amplitude, may be observed. 

Chest radiographic findings vary according to the volume of pericardial fluid. Larger collections typically cause the heart to appear globular or assume the classic "money bag" shape. Emergency pericardiocentesis can be a life-saving procedure in cardiac tamponade. Biochemical and microbiologic evaluation of the tapped pericardial fluid often reveals the underlying cause of pericardial effusion.

Myocarditis, either alone or in association with pericarditis, may cause chest pain. Depending on the area of myocardium involved, the ECG may show arrhythmias or ST- segment changes.

 a familial condition, can present with syncope and angina-like chest pain in children and adolescents and is a known cause of sudden cardiac death.

 Suspicion of this disorder usually emergesduring the evaluation of a cardiac murmur or an assessment of fatigue, dyspnea on exertion, palpitations, syncope, or angina-like symptoms. There may be a family history of sudden, unexplained death.

The examination findings include hyperdynamic precordium, double apical impulse, and ejection systolic murmur. Immediate postexercise evaluation may show increased murmur intensity. ECG findings generally include left ventricular hypertrophy with or without ST-segment changes and Q wave changes consistent with a left ventricular strain pattern. Chest radiography typically shows a slight left ventricular cardiac enlargement. Echocardiography usually reveals asymmetric interventricular septal hypertrophy.

 Electrocardiography is warranted in a patient who has syncope with a suspected cardiac cause. If the age-corrected QT interval is prolonged--whether or not there is a family history of sudden death--consider a diagnosis of long QT syndrome.

Premature coronary artery diseases are rarely seen in adolescents with hypercholesterolemia and uncontrolled diabetes, although there may be a family history of sudden death from premature coronary artery disease. Case reports of lymphocytic myocarditis in adolescents with angina-like clinical and laboratory findings have also been published.

 The incidence of pediatric chest pain that has a psychogenic or psychiatric cause is 5% to 17%.

 Although these causes represent a diagnosis of exclusion, a trusting relationship between the family and the pediatrician is essential to help elucidate the underlying problems. A variety of psychosocial causes may contribute to psychogenic chest pain; these include a death in the family, familial discord, poor school performance, and social isolation. Psychogenic chest pain is generally seen in children older than 12 years and is more prevalent in girls.

 A thorough history taking and physical examination can help rule out organic and psychiatric causes of chest pain. Nevertheless, a precise cause cannot be identified in many children. The pain typically has a chronic course and often resolves spontaneously.

 Patients with sickle cell disease frequently present with chest pain as a manifestation of vaso-occlusive episodes.

 Cocaine abuse is a known cause of angina-like pain, especially in adolescents.

 Pubertal breast changes and diseases such as mastalgia and fibrocystic disease may cause chest pain in teenagers.

 Male breast enlargement (gynecomastia) sometimes produces pain and tenderness.

 Mediastinal and chest wall tumors are a rare cause of chest pain in children.

Taking a thorough history is important for an accurate diagnosis (

). The mnemonic "PQRST" is helpful in describing pain: 

It is also important to elicit factors that aggravate and relieve pain, as well as associated symptoms.

A history of exertional chest pain associated with palpitations and syncope may indicate a cardiac origin. A family history of sudden premature death, heart disease, hypertension, or hypercholesterolemia may also suggest possible cardiac risk factors.

Pain that is associated with eating may point to a gastric or duodenal source. Typically, eating tends to relieve pain that is of duodenal origin, but it can also aggravate gastritic pain. GI pathology is suggested by a history of melena, hematochezia, or hematemesis.

Chest pain that is aggravated or relieved when the patient changes position may offer helpful clues. For example, a patient with pericarditis experiences relief when sitting or leaning forward and exacerbation when lying down.

A history of the use of medication (prescription and nonprescription) and drugs of abuse is important, especially because cocaine use is known to cause angina-like pain.

 A history of fever, cough, hemoptysis, or dyspnea points to a likely respiratory source. Pain that worsens with deep inspiration may suggest pleuritis or occult rib fracture. Children who participate in contact sports should also be asked about a history of injuries that may cause chest pain, such as overt or occult rib fracture.

A detailed social history that focuses on the child's relationship with peers, school performance, family dynamics, and potential life stressors should be elicited. A family or personal history of psychiatric disorder is often helpful in determining the cause of chest pain in patients in whom a psychogenic cause is suspected.

A thorough physical examination can often reveal the cause of chest pain. Examine the vital signs for indications of fever, tachycardia, tachypnea, or age-corrected abnormalities in blood pressure. Whenever possible, have the patient score the pain using a standard pain scale.

Physical examination should include identification of marfanoid features, such an atypically long arm span. Reproducibility of chest pain on application of pressure suggests a musculoskeletal origin. Palpate the breasts for tenderness. Bruises or point tenderness may indicate accidental or nonaccidental trauma.

The respiratory evaluation should include assessment of retractions, air entry, and abnormal lung sounds (crepitations and wheezes). Evaluate the heart rate and rhythm and check for the presence of murmurs. Hypotension, hypertension, or gallop rhythm may indicate a potential cardiac cause of chest pain. Vasculitic or photosensitive rashes may indicate an autoimmune cause.

SUGGESTED LABORATORY EVALUATION AND WORKUP

A careful history taking and physical examination usually reveals the cause of chest pain and helps guide subsequent evaluation. A focused workup, rather than exhaustive laboratory evaluation, should be the first step. For example, chest radiography is reasonable if one suspects a fracture or respiratory cause. Chest radiography can detect air-space disease, pneumothorax (

), soft tissue swelling, and fractures and identify cardiac size and silhouette abnormalities. Performing a complete blood cell count and blood cultures is reasonable in patients with suspected lung infections. Elevated erythrocyte sedimentation rate is a nonspecific marker of inflammation.

If the history and physical examination suggest a likely cardiac cause, an ECG and pediatric cardiology referral may be indicated. Psychological evaluation and counseling are warranted if psychosomatic causes are likely. A urine drug screen may be useful if cocaine use is suspected.

Identification of the cause of chest pain will determine appropriate treatment. Costochondritis and other musculoskeletal conditions are usually managed with analgesics, especially NSAIDs. Patients with pneumonia are treated with antibiotics and supportive care.Gastritis, peptic ulcers, and gastroesophageal reflux may require pharmacologic treatment; dietary modification may help in uncomplicated cases. In rare cases of potentially life-threatening cardiac causes, inpatient hospitalization with cardiorespiratory monitoring and evaluation by a pediatric cardiologist may be required. Antiarrhythmic medications may be indicated in rare cases that involve arrhythmias or long QT syndrome. Psychological or psychiatric evaluation is sometimes necessary.

Occasionally, even after frequent reassurance and after an organic cause has been ruled out, patients continue to experience symptoms. Analgesics may offer relief during exacerbations. Many children with chest pain experience spontaneous resolution.

  Selbst SM, Ruddy RM, Clark BJ, et al. Pediatric chest pain: a prospective study. 

  Fyfe DA, Moodie DS. Chest pain in pediatric pa-tients presenting to cardiac clinic. 

  Pantell RH, Goodman BW Jr. Adolescent chest pain: a prospective study. 

  Evangelista JA, Parsons M, Renneburg AK. Chest pain in children: diagnosis through history and physical examination. 

  Coleman WL. Recurrent chest pain in children. 

Gray's Anatomy: The Anatomical Basis of Clinical Practice.

 39th ed. New York: Elsevier Churchill Livingstone; 2005:1664.
 

  Hall JR, Pyeritz RE, Dudgeon DL, Haller JA Jr. Pneumothorax in the Marfan syndrome: prevalence and therapy. 

  Wiens L, Sabath R, Ewing L, et al. Chest pain in otherwise healthy children and adolescents is frequently caused by exercise-induced asthma. 

  David DG, Benjamin H. Nontraumatic musculoskeletal disorders: shoulder pain. In: Tintinalli JE, ed. 

Emergency Medicine: A Comprehensive Study Guide.

 6th ed. New York: McGraw-Hill; 2004:283.
 

  Walsh CA. Syncope and sudden death in the adolescent. 

  Azzano O, Bozio A, Sassolas F, et al. Natural history of hypertrophic obstructive cardiomyopathy in young patients: apropos of 40 cases [in French]. 

Chest pain in children evokes anxiety in patients and their parents--and prompts frequent visits to the pediatrician's office, urgent care facility, or emergency department (ED). In a prospective study, Selbst and colleagues reported that chest pain accounted for 6 in 1000 visits to an urban pediatric ED.

Pediatric Chest Pain: Keys to the Diagnosis

A 12-year-old African American boy presented to the emergency department with a painless swelling on the left side of his head that had gradually progressed over a month. There was no history of pain, trauma, or fever. Findings from a review of all other systems were normal.

The patient had no significant medical or surgical history. He was well-built and well-nourished. He was afebrile and his vital signs were within normal limits.

The 5-cm swelling on the left frontoparietal region of the scalp was nontender, nonfluctuant, and soft to firm in consistency. There were no signs of inflammation. A circular bony defect approximately 3 cm in diameter was appreciated underneath the swelling.

There was no clinical evidence of similar lesions elsewhere. The patient did not have a rash, lymphadenopathy, hepatosplenomegaly, or bony tenderness.

X-ray films of the skull showed a circular defect and an overlying soft tissue swelling (

). CT scans of the head confirmed the solitary bone defect in the skull without any involvement of the brain (

). The complete blood cell count was within normal limits.

The differential diagnosis included chronic osteomyelitis and eosinophilic granuloma (EG).

A biopsy specimen of the lesion revealed Langerhans cells, which were positive for the CD1a marker. Based on this finding, Manu Kundra, MD, and Helene Tigchelaar, MD, of Children's Hospital of Michigan in Detroit made the diagnosis of EG.

EG belongs to a group of disorders collectively called childhood histiocytosis. These disorders are all caused by the proliferation and accumulation of cells derived from monocyte-macrophage lineage.

 Based on histopathology, immunology, and electronic microscopic findings, the histiocytoses have been categorized into 3 classes.

Langerhans cell histiocytosis (LCH) belongs to class 1; a number of diseases, including EG, are in this category. LCH most commonly affects the skeletal system--especially in older children, such as this patient. The skull is affected in 80% of cases.

 Patients with EG may have solitary or multiple skull lesions. Symptoms vary depending on the site or extent of involvement or on secondary effects, such as pathologic fractures of the spine leading to cord compression

 or mastoid bone involvement causing otorrhea.

Therapeutic options include excision of the lesion, corticosteroid injection into the lesion, and low-dose radiation. In this patient's case, local curettage was therapeutic. The child will be followed up every 6 months for 3 years. He is currently asymptomatic. Recurrence is unlikely if no new lesions appear after a year.

 Ladisch S. Histiocytosis syndromes of childhood. In: Behrman RE, Kleigman RM, Jenson HB, eds. 

 16th ed. New York: WB Saunders Co; 2000:1570-1572.
 

 Fernando Ugarriza L, Cabezudo JM, Porras LF, Lorenzana LM. Solitary eosinophilic granuloma of the cervicothoracic junction causing neurological deficit. 

 Hadjigeorgi C, Parpounas C, Zarmakoupis P, Lafoyianni S. Eosinophilic granuloma of the temporal bone: radiological approach in the pediatric patient. 

Photoclinic: Eosinophilic Granuloma

A 4-day-old boy was transferred to our institution for evaluation of multiple anomalies. He was born to a gravida 2 para 1 mother at 38 weeks of gestation. He weighed 3288 g at birth. Antenatal ultrasonograms at 5, 6, and 7 months had revealed short bones in the legs. The mother was subsequently lost to follow-up--until now.

Both parents were of Amish ancestry, with no history of consanguinity between them. They both were of normal stature, as was their firstborn son.

The neonate weighed 3400 g (90th percentile), head circumference was 33 cm (50th percentile), and length was 46 cm (25th percentile). The ratio of upper segment to lower segment was 1.78 (normal, 1.70). He had low-set ears, normal eyes, and 2 natal teeth (mandibular). The upper lip frenulum was attached to the gum line.

Examination of the hands revealed axial polydactyly (7 digits on the left hand and 6 on the right) and syndactyly (fifth and sixth fingers of both hands) (

). In addition, the patient had hypoplasia of fingernails, bilateral simian creases, bilateral short arms and forearms, and overlapping toes. He had a narrow, bell-shaped thoracic cage (

), which was demonstrated on chest films. Results of the abdominal and neurologic examination were normal.

The cardiac echocardiogram revealed an atrioventricular canal defect, atrial septal defect, ventricular septal defect, a large patent ductus arteriosis, and coarctation of the aorta. The skeletal survey also revealed widened coronal sutures, multiple wormian bones, clavicular hooking, short ribs with widened ends, deep costophrenic angles, shortening of the extremities (mostly of the hands and feet, and the arms and legs to a lesser degree), the absence of multiple distal phalanges of toes (

), flared iliac wings, and normal vertebrae.

The infant required ventilatory support: multiple attempts at extubation were unsuccessful. His cardiac lesions were repaired, but eventually, chylous ascites developed, as did recurrent infections and bronchospasm. Coagulation abnormalities also developed; therapy to prevent disseminated intravascular coagulation was started. Analysis of the methylene tetrahydrofolate reductase gene showed heterozygous mutation, which therefore had no connection to the coagulation problem.

Tracheostomy was finally done because of prolonged ventilatory support. The infant's health continued to deteriorate. Support was withdrawn on the 96th day of his life. His parents declined autopsy.

   TO WHAT DIAGNOSIS DO THE FINDINGS OF THORACIC DYSTROPHY AND SHORTENING OF THE RIBS POINT?  

The clinical and radiographic findings of thoracic dystrophy and shortening of the ribs led to the following differential diagnostic considerations:

 Short rib polydactyly syndrome--an autosomal recessive disorder with lethal skeletal dysplasia, markedly short ribs, short limbs, postaxial polydactyly, and multiple anomalies of major organs.

 Jeune syndrome--also called asphyxiating thoracic dystrophy-- which is associated with micromelic limbs, retinal degeneration, and renal failure. Polydactyly or abnormalities of hair/nails/teeth have not been reported.

 Weyers acrodental dysostosis--an autosomal dominant condition that is a milder phenotype of EVC syndrome. In most cases, this condition is nonfamilial.

 Thanatophoric dysplasia--an autosomal dominant condition (mostly newly occurring mutations) with severe growth deficiency, clover-shaped skull, narrow thorax with small ribs, and severely micromelic limbs.

 Barnes syndrome--an autosomal dominant condition characterized by thoraco-laryngo-pelvic dysplasia. This syndrome is not associated with limb abnormalities, polydactyly, or shortening of the ribs.

We based our diagnosis of EVC syndrome on the following:

Ellis and van Creveld first described this syndrome, which is also known as mesoectodermal dysplasia or chondroectodermal dysplasia, in 1940. The chondrodysplasia affects the long bones--mainly the distal end of extremities. The result is short limb dwarfism and hexadactyly of the fingers and (less frequently) toes. The ectodermal dysplasia causes hair and nail abnormalities. Affected children also have multiple congenital heart defects and may have epispadias, cryptorchidism, talipes equinovalgus, and Dandy-Walker syndrome.

The highest incidence of EVC syndrome is seen in the Amish population: there are an estimated 5 cases per 1000 live births. The frequency of carriers in this population may be as high as 13%. Males and females are equally affected.

Histopathologic studies of fetuses with EVC syndrome show chondrocyte disorganization in the physeal growth zone of the cartilage of long bones.

 gene has been mapped to chromosome 4p16, but clinical use for diagnosis is not yet available. The transmission is mainly autosomal recessive. Another gene, 

 may be responsible in persons of Ashkenazi descent.

Because EVC syndrome is an autosomal recessive disease, the family history may reveal parental consanguinity and siblings who also have EVC syndrome. Routine prenatal ultrasonography may show intrauterine growth retardation, skeletal malformations, and cardiac defects. Natal teeth may be present.

 Affected children are of small stature with disproportionately short extremities. Polydactyly of fingers is a consistent finding. Only about 10% of patients have polydactyly of the toes. The 7 fingers seen in our patient have never been described before (

). Polydactyly is usually bilateral and postaxial (an extra digit is located next to the fifth digit). Affected patients have short middle phalanges, hypoplastic distal phalanges, malformed carpals, fused capitate and hamate bones, and extra carpal bones. The nails are hypoplastic, dysplastic, or sometimes complete-ly absent.

 Many affected patients have natal teeth, partial anodontia, small teeth, and delayed eruption. Enamel hypoplasia is common and can result in abnormally shaped teeth, with frequent malocclusion. The labiogingival frenulum sometimes binds the upper lip to the alveolar ridge.

 Cardiac anomalies are reported in about 60% of patients with EVC syndrome and are a major cause of shortened life expectancy. The most common anomaly is either a single atrium or a large atrial septal defect. Pectus carinatum with a long narrow bell-shaped chest may lead to respiratory difficulties.

Anomalies are found in about 22% of those affected. These include hypospadias, epispadias, hypoplastic penis, cryptorchidism, vulvar atresia, focal tubulomedullary dilatation, nephrocalcinosis, and agenesis of kidneys.

Most persons with EVC syndrome are of normal intelligence. Occasional CNS anomalies and mental retardation have been reported.

The diagnosis of EVC syndrome depends on clinical findings. Karyotyping is not helpful because this is a single-gene disorder.

Once this diagnosis is suspected, the child should undergo cardiac echocardiography, chest roentgenography, a skeletal survey, and renal ultrasonography. A multidisciplinary approach is necessary.

Although the bell-shaped thorax and other congenital heart defects are serious, they may not always be lethal. Cardiology and cardiothoracic services will be needed to manage the patient's congenital heart defects.

The unique shape of the chest in children with EVC syndrome may predispose them to poor respiratory function. Surgery can do little to correct this condition. Management involves adequate oxygenation and keeping a close watch on the lung function test results. The usual time of decompensation is early infancy. The condition tends to improve as the patient grows.

 An oral and maxillofacial surgeon will be needed to treat the hypertrophic upper frenulum. A dentist usually treats the oligodontia of the frontal region and the conical crowns with laminated veneers and a dental adhesive cement that facilitates simultaneous etching of both the enamel and dentin. 

 Whether a patient will need such care depends on the complexity of the deformity. Postaxial polydactyly of the foot is most commonly treated with surgical removal of extra digits. Surgery is best deferred, when possible, until the child is 9 to 12 months old in an effort to decrease the risk of anesthesia.

 Because about 25% of affected patients have genitourinary abnormalities, a pediatric urologist may need to get involved.

 Parents should receive appropriate counseling and risk assessment. They should also be advised that the recurrence rate of EVC syndrome in future siblings is about 25%.

EVC syndrome is usually nonlethal. However, complications may be fatal. The overall prognosis is guarded.

 Howard TD,Guttmacher AE, McKinnon W, et al. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. 

 Ide SE, Ortiz de Luna RI, Francomano CA, Polymeropoulos MH. Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. 

 Jones KL. Chondroectodermal dysplasia. In: Jones KL, Smith DW, eds. 

Smith's Recognizable Patterns of Human Malformation. 

5th ed. Philadelphia: WB Saunders Co; 1997:374-375.

 Mahoney MJ, Hobbins JC. Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. 

 McKusick VA, Egeland JA, Eldridge R, Krusen DE. Dwarfism in the Amish, I: the Ellis-van Creveld syndrome. 

 Polymeropoulos MH, Ide SE, Wright M, et al. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. 

 Qureshi F, Jacques SM, Evans MI, et al. Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). 

 Rosemberg S, Carneiro PC, Zerbini MC, Gonzalez CH. Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract. 

 Ruiz-Perez VL, Ide SE, Strom TM, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 

 Torrente I, Mangino M, De Luca A, et al. First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers. 

 Zangwill KM, Boal DK, Ladda RL. Dandy-Walker malformation in Ellis-van Creveld syndrome. 

Manu Kundra, MD

Articles

Case In Point: Subconjunctival Hemorrhages in a Teenage Boy

Pediatric Chest Pain: Keys to the Diagnosis

Photoclinic: Eosinophilic Granuloma

Genetic Disorders: 4-Day-Old Boy With Multiple Abnormalities