Shwachman–Bodian–Diamond syndrome (OMIM 260400) was identified in 1964 by pediatricians Harry Shwachman, a leader in cystic fibrosis, and Louis K. Diamond, a hematologist, along with pediatrician and morbid anatomist Martin Bodian. Initially the syndrome’s clinical presentation included exocrine pancreatic insufficiency (lipomatous replacement of the pancreas) and neutropenia. In 1967 skeletal changes of metaphyseal chondrodysplasia were also described, completing the triad of findings; these abnormalities are present in all affected children and should be viewed as an integral feature of the syndrome, also called Shwachman–Diamond syndrome.

Esophageal atresia was first classified by the Boston Children's Hospital radiologist Edward Vogt in 1929 and has been a major challenge in its characterization and management ever since. It defied all attempts at repair until University of Michigan thoracic surgeon Cameron Haight's first successful fistula ligation and primary esophageal anastomosis in 1941. Haight worked with the pediatric radiologist John Holt. This historical review describes advances in pre- and postnatal diagnosis.

Background Midgut volvulus is a complication of malrotation of bowel and mesenteric malfixation. In contrast, primary volvulus of the small bowel is a distinctly different and rare entity characterized by torsion of the entire small bowel with normal mesenteric fixation. Objective To present the clinical and imaging findings in four infants with primary small bowel volvulus and normal bowel fixation in order to improve awareness of this entity among clinicians and radiologists and to discuss the potential etiologies of this entity to distinguish it from other causes of small bowel volvulus. Materials and methods A retrospective review of imaging studies (two ultrasounds and four upper gastrointestinal series) in four infants (three full-term and one premature) from three institutions with surgically proven volvulus of the entire small bowel and normal bowel fixation were reviewed by three board-certified pediatric radiologists and correlated with clinical and surgical reports when available. Results The infants presented during the first week to 6 months of life and were acutely ill. The upper gastrointestinal series showed complete duodenal obstruction with beaking in one and partial duodenal obstruction in three. All studies were interpreted as highly suspicious for malrotation and midgut volvulus. Emergent laparotomy demonstrated primary small bowel volvulus with normal mesenteric fixation in all infants. The base of the small bowel mesentery was described by the operating surgeon as smaller than normal in one infant (case 3). There was no mesenteric defect or other abnormality predisposing to volvulus in the other three. In both infants who had abdominal US, a retroperitoneal position of the third portion of the duodenum was demonstrated. All infants survived. One infant required resection of the necrotic small bowel and currently has short gut syndrome, one has malabsorption and two were lost to follow-up. Conclusion Primary small bowel volvulus with normal fixation is indistinguishable from malrotation with midgut volvulus in the acutely ill infant or child. Radiographic diagnosis can be difficult in patients with intermittent or incomplete small bowel volvulus without malrotation. In these patients, neither an upper gastrointestinal series demonstrating a normal position of the duodenojejunal junction nor the sonographic demonstration of a retromesenteric third portion of the duodenum excludes the diagnosis. In young infants, the clinical and imaging findings may mimic necrotizing enterocolitis. Sonography may be useful to evaluate the bowel for signs of bowel wall compromise or a whirlpool sign.

A 20-month-old female presented with respiratory distress and a right adrenal mass extending into the inferior vena cava and right atrium. The mass was initially thought to be neuroblastoma. Pathology later revealed adrenocortical carcinoma. Inferior vena cava extension is far more common in adrenocortical carcinoma than neuroblastoma, and its presence should prompt clinical and laboratory evaluation for an adrenocortical tumor. The genetic findings in TP53 associated with this disease are discussed.

Simon van Creveld received both the MD and PhD degrees and had a multifaceted medical and scientific education at many hospitals and research institutes in the Netherlands, Germany, and the UK. He and his wife were the first to develop insulin for the Netherlands. His major interests were in hemophilia and hemorrhagic disorders, which accounted for 87 of his publications. In 1934, van Creveld demonstrated that a dispersed protein fraction obtained from serum could reduce the clotting time of hemophilic blood. His interest in glycogen storage disease resulted in van Creveld–von Gierke disease for which van Creveld contributed four published articles. The Ellis–van Creveld syndrome, also known as chondroectodermal dysplasia, was published in 1940 and became well known to medical geneticists. During the Nazi occupation of the Netherlands, van Creveld's professorship was taken away from him because he was Jewish. His visits to hospitals of concentration camps to treat babies and give pediatric advice while wearing a Jewish Yellow Star and interacting with SS Commandants in charge, and then leaving can only be described as amazing. After the war, his professorship was returned, and in the same year as his retirement, he established a large Hemophila Treatment and Research Center now known as the Van Creveld Clinic, which celebrated its 40th anniversary in 2005. © 2014 Wiley Periodicals, Inc.

Background Absent pulmonary valve is a rare cardiovascular anomaly that can result in profound tracheobronchial compression. Objective To demonstrate the advantage of multi-slice CT in diagnosing tracheobronchial compression, its severity as related to the adjacent dilated pulmonary arteries, and associated lung and cardiac lesions. Materials and methods We included children with absent pulmonary valve who were reviewed by multi-slice CT during a 17-year period. The number and locations of stenoses and lung lesions were noted and the severity of stenosis was categorized. The diameter of the pulmonary artery was measured and associated cardiac defects were demonstrated. Results Thirty-one children (14 girls and 17 boys) were included. Of these, 29 had ventricular septal defect and 2 had an intact ventricular septum. Twenty-nine children (94%) had tracheobronchial compression, judged to be mild in nine children (31%), moderate in 10 (34%) and severe in 10 (34%). The different locations of the stenosis (carina, main bronchi, lobar and segmental bronchi) were observed. And the number and location of lung lesions demonstrated that the right middle and left upper and lower lobes were often affected. The diameter of the pulmonary artery in these children was well above normal published values, and Spearman rank correlation analysis showed a correlation between the size of the pulmonary artery and the severity of the tracheobronchial stenosis. Nineteen children (61%) underwent surgery and 4 of these children had a multi-slice CT post-operative follow-up study. Conclusion Absent pulmonary valve can cause significant morbidity and mortality in children. Multi-slice CT can accurately depict areas of tracheobronchial compression, associated lung lesions and cardiac defects, helping to direct the surgeon.

The life of Martin H. Wittenborg was short. During his tenure at Boston Children's Hospital, he wrote brilliant papers based on his observations regarding such entities as intestinal malrotation and vascular rings and slings. He wrote about his extensive experience using radiotherapy in the treatment of neuroblastoma and its effects on the growing spine. This article reflects the memories of some of his students, who describe him as a brilliant teacher. His effect on so many and his contributions are all the more remarkable considering the fact that Wittenborg was deaf.

John O'Connor (everyone called him Jack) was born in Boston on February 2, 1931.At age 4, he contracted poliomyelitis, then known as infantile paralysis; it left him with permanent, near-total paralysis of his left arm and shoulder.He grew up in Dedham, in the Boston suburbs; he spent almost the whole of his life in and around Boston and Cape Cod.In 1959, he married Anne Walsh.Their exceptionally happy marriage led to two daughters and four surviving sons, including one pediatric radiologist and one pediatrician.His medical career was largely spent at the Boston City Hospital and Boston University School of Medicine, where for 21 years he was associate dean for admissions; at one time, he was responsible for the admission of more than half the living graduates of that medical school.Late in life, he developed chronic congestive heart failure and an uncharacterized neurological illness.He died peacefully at his home on Cape Cod, surrounded by friends and relatives, on March 1, 2012.

This historical report focuses on the first clinical description of pseudoachondroplasia and its radiographic findings. Only half a century ago, pseudoachondroplasia was recognized as a genetic disorder with a distinct but variable phenotype of short stature, normal facial features, and progressive joint problems starting in adolescence. Radiologically, the disease is particularly intriguing because the patients appear normal at birth. The patients develop the typical gait disturbances when they begin to walk. Radiographs show the characteristic anterior tongue-shaped lumbar vertebral body changes that develop after the first year of life. This account presents the most well-known group of individuals affected by pseudoachondroplasia, the Ovitz family, who narrowly escaped death in the concentration camp of Auschwitz in 1944 because of SS physician Dr. Josef Mengele’s fascination with dwarfs. It was not until 1995 that the underlying genetic defect in the COMP gene was identified on chromosome 19.

Sir, Recently, an article about Williams-Beuren syndrome [1] appeared in Pediatric Radiology. Characteristic facies, intellectual disability, as well as supravalvular aortic stenosis (SVAS) are typical of Williams syndrome (WS) (OMIM #194050). Familial aortic stenosis, or Eisenberg syndrome [2] (OMIM#185500), represents a separate group of patients with autosomal-dominant SVAS in which affected members have normal facies and average intelligence. The history of Eisenberg-type familial SVAS and WS, once considered part of a single condition, is an interesting one. Because of the commonality of the cardiac lesion in these two groups, advances in the genetic basis of Eisenbergtype familial SVAS led to the discovery that both WS and familial SVAS result from an abnormality in the elastin gene (ELN). In 1993 Keating [3], a molecular geneticist, used linkage analysis to suggest that ELN, located at 7q11.23, was the candidate gene for SVAS. Later publications identified several families with familial SVAS in whom the ELN gene was disrupted by either a small deletion or translocation. Based on the identification of the genetic abnormality present in familial SVAS, fluorescent in situ hybridization (FISH) analysis of patients with the WS phenotype was performed, and complete deletion of the ELN genewas identified. Haploinsufficiency of additional genes has been implicated in the other abnormalities characteristic of WS. The history of familial SVAS and its relationship toWS has been largely forgotten. Recent interest in the genetic cause of WS is directly related to the genetic breakthroughs in patients with isolated familial SVAS. Because of the commonality of the cardiac lesion in these two groups, advances in one disease led to discoveries in the second.

Copper deficiency can cause bone lesions in infants, which might be confused with child abuse. Two extremely low birth weight preterm infants had complicated medical courses requiring prolonged parenteral nutrition for short-gut syndrome, which led to the development of cholestasis. Both had spent their entire lives in the hospital. They had been on prolonged ventilator support for chronic lung disease. They developed signs of copper deficiency between 5 and 6 months of age, initially raising child abuse concerns. Musculoskeletal discomfort led to the recognition of radiographic findings of metabolic bone disease. Included were osteoporosis, metaphyseal changes, and physeal disruptions. Copper levels were low; both low copper parenteral nutrition and gut losses from refeeding diarrhea likely contributed to their deficiency. Therapeutic supplementation with copper corrected their deficits and clinical and radiologic findings. The information from these cases, in particular, their radiologic findings, indicate the need to monitor copper status in at-risk premature infants. These findings may aid prevention and earlier recognition of copper deficiency. Their specific radiologic and clinical findings should aid differentiation of such children from abused infants.

Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.

Narrowing of the abdominal aorta and renal arteries (mid-aortic syndrome) after treatment for neuroblastoma has been attributed to radiation therapy. We present a child with neuroblastoma, successfully treated without radiation therapy, who developed mid-aortic syndrome and hypertension. MR imaging demonstrated encasement of the aorta at presentation. Following successful treatment, long-segment aortic narrowing and narrowing of the proximal renal arteries were present. Hypertension has improved during a 5-year period although renal artery stenosis persists. The incidence of mid-aortic syndrome in children with neuroblastoma is unknown. Etiologies include vascular injury from radiation or chemotherapy, the effect of catecholamines secreted by the tumor on arterial growth, arterial injury at the time of surgery or a constitutional predisposition to the development of both neuroblastoma and mid-aortic syndrome.

An infant with complex cyanotic congenital heart disease was recently encountered whose radiographs seemed to show enhancement of pericardium, peritoneal mesothelium and body wall fascial planes without enhancement of the liver or spleen after very large doses of intravenous contrast. Although patterns of postcontrast enhancement have been described previously, this pattern seems to be unique. We report the unusual postcontrast opacification pattern and speculate about its underlying mechanism.

Although noted in the 19th century, it was not until 1938 that Scheid published the combination of left pulmonary artery sling and narrowing of the airway due to annular tracheal cartilages. Unaware of these prior descriptions, and without a precise preoperative diagnosis, Willis Potts in Chicago performed the first successful sling repair in 1953. In 1976, Cohen and Landing described Scheid’s combination of left pulmonary artery sling and stenosis caused by complete tracheal rings, and the term “ring-sling complex” was introduced by Berdon in 1984. Four years later, Wells and Landing noted characteristic tracheobronchial malformations associated with these lesions and proposed a classification that has been confirmed to be clinically relevant in recent cross-sectional imaging studies.

Background Studies have reported that thoracic CT may provide greater sensitivity compared with radiography in detection of pediatric rib fractures and fracture healing. The additional sensitivity afforded by thoracic CT may have medicolegal implications where abuse is suspected. Objective To determine the additional value of postmortem thoracic CT compared with radiography in detecting pediatric rib fractures, and fracture healing, using autopsy findings as a gold standard. Materials and methods We retrospectively reviewed 56 coroner’s cases with postmortem radiography and CT thoracic survey. All studies underwent primary interpretation by one or two radiologists. The study radiologist independently reviewed all images from 13 patients with positive findings on radiography, CT or autopsy. Sensitivity and specificity between observers and imaging modalities were compared. Results Primary interpretation: Fractures were recognized on radiography in 5/12 patients who had fractures found at autopsy, and on CT in 8/12 patients. In total, 29% (24/83) of fractures were reported on radiography, and 51% (52/101) of fractures were reported on CT. Study radiologist: Fractures were recognized on radiography in 7/12 patients who had fractures found at autopsy, and on CT in 11/12 patients. In total, 46% (38/83) of fractures were reported on radiography, and 85% (86/101) of fractures were reported on CT. Conclusion Postmortem thoracic CT provides greater sensitivity than radiography in detecting pediatric rib fractures, most notably in anterior and posterior fractures. However, the degree of improvement in sensitivity provided by CT might depend on observer experience.

In 1938, Saul Jarcho and Paul Levin from Johns Hopkins Hospital reported cases of thoracic insufficiency due to vertebral and rib anomalies. Nearly 30 years later, in 1966, Norman Lavy and associates from Indiana University reported a similar syndrome in a family from Puerto Rico. Lavy's description was followed by a report by John E. Moseley from New York City, where the name spondylothoracic dysplasia (dysostosis) was first used. For more than half a century, there has been confusion regarding the distinction between these two phenotypically similar syndromes that cause thoracic insufficiency. Spondylocostal dysostosis (SCD), or Jarcho-Levin syndrome, causes mild to moderate respiratory insufficiency, is panethnic and has been linked to genes such as DLL3, which is known to be associated with the Notch pathway. In contrast, spondylothoracic dysostosis (STD), or Lavy-Moseley syndrome, results in more severe respiratory compromise, is largely linked to Puerto Rican cohorts and is thought to be associated to the MESP2 gene, also a Notch pathway gene. Long-term studies of Puerto Rican cohorts with STD contradicts the previously held belief that individuals affected with STD have markedly diminished life expectancy with as many as 25% surviving into later childhood and adult life.