- I’m a pediatric radiologist interested in developing new imaging technologies.edit
The most common pediatric extragonadal pelvic cancers include germ cell tumors, sacrococcygeal teratomas, and rhabdomyosarcomas (arising from the urinary bladder, prostate, paratesticular tissues, vagina, uterus, and perineum). This... more
The most common pediatric extragonadal pelvic cancers include germ cell tumors, sacrococcygeal teratomas, and rhabdomyosarcomas (arising from the urinary bladder, prostate, paratesticular tissues, vagina, uterus, and perineum). This manuscript describes the radiological and nuclear medicine features of these entities and provides consensus-based recommendations for the assessment at diagnosis, during and after treatment.
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Research Interests: Pediatrics, Medicine, Pregnancy, Humans, Neuroradiology, and 13 moreFemale, Male, Pediatric radiology, Newborn Infant, Adult, Rickets, Hyperparathyroidism, Chronic Kidney Failure, Bone and Bones, Secondary Hyperparathyroidism, Pregnancy complications, renal insufficiency, and Paediatrics and reproductive medicine
Background Radiologists have difficulty distinguishing benign from malignant bone lesions because these lesions may have similar imaging appearances. The purpose of this study was to develop a deep learning algorithm that can... more
Background Radiologists have difficulty distinguishing benign from malignant bone lesions because these lesions may have similar imaging appearances. The purpose of this study was to develop a deep learning algorithm that can differentiate benign and malignant bone lesions using routine magnetic resonance imaging (MRI) and patient demographics. Methods 1,060 histologically confirmed bone lesions with T1- and T2-weighted pre-operative MRI were retrospectively identified and included, with lesions from 4 institutions used for model development and internal validation, and data from a fifth institution used for external validation. Image-based models were generated using the EfficientNet-B0 architecture and a logistic regression model was trained using patient age, sex, and lesion location. A voting ensemble was created as the final model. The performance of the model was compared to classification performance by radiology experts. Findings The cohort had a mean age of 30±23 years and was 58.3% male, with 582 benign lesions and 478 malignant. Compared to a contrived expert committee result, the ensemble deep learning model achieved (ensemble vs. experts): similar accuracy (0·76 vs. 0·73, p=0·7), sensitivity (0·79 vs. 0·81, p=1·0) and specificity (0·75 vs. 0·66, p=0·48), with a ROC AUC of 0·82. On external testing, the model achieved ROC AUC of 0·79. Interpretation Deep learning can be used to distinguish benign and malignant bone lesions on par with experts. These findings could aid in the development of computer-aided diagnostic tools to reduce unnecessary referrals to specialized centers from community clinics and limit unnecessary biopsies. Funding This work was funded by a Radiological Society of North America Research Medical Student Grant (#RMS2013) and supported by the Amazon Web Services Diagnostic Development Initiative.
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CASE A 5-month-old girl was diagnosed with congenital bilateral absence of the L4 pedicles and an absent right kidney. She developed a right thoracic scoliosis at age 3 that was treated with a brace. At her most recent follow-up at age... more
CASE A 5-month-old girl was diagnosed with congenital bilateral absence of the L4 pedicles and an absent right kidney. She developed a right thoracic scoliosis at age 3 that was treated with a brace. At her most recent follow-up at age 16, she was skeletally mature and had a residual 20° right thoracic scoliosis. She was pain-free, had a normal neurological examination, and was fully active. CONCLUSION This case presents a long-term follow-up of a patient with congenital bilateral absence of L4 pedicles. She developed scoliosis that was successfully treated with bracing. No other significant issues developed over 15 years of follow-up.
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A 13-year-old boy presented to the authors’ institution with a 6-month history of a mass in his left calf. The mass had not decreased in size despite the patient’s use of cold compresses and compression bandages. The patient denied... more
A 13-year-old boy presented to the authors’ institution with a 6-month history of a mass in his left calf. The mass had not decreased in size despite the patient’s use of cold compresses and compression bandages. The patient denied experiencing pain when walking or with knee flexion, although the mass was painful if accidentally bumped. The patient did not complain of fevers, chills, nausea, or vomiting. He otherwise was healthy and his medical and family history were unremarkable. On physical examination, the patient was a healthy appearing, well-developed 13-year-old boy in no apparent distress. The patient had good motor strength and function in all extremities. A soft tissue mass, approximately 8 6 cm in diameter, was palpated along the proximal and GLOSSARY
PURPOSE Many novel therapies for relapsed and refractory neuroblastoma require tumor tissue for genomic sequencing. We analyze our experience with image-guided biopsy in these patients, focusing on safety, yield, adequacy for... more
PURPOSE Many novel therapies for relapsed and refractory neuroblastoma require tumor tissue for genomic sequencing. We analyze our experience with image-guided biopsy in these patients, focusing on safety, yield, adequacy for next-generation sequencing (NGS), and correlation of tumor cell percent (TC%) with quantitative uptake on 123I-meta-iodobenzylguanidine (MIBG) single-photon emission computed tomography with computed tomography (SPECT/CT). MATERIALS AND METHODS An 11-year retrospective review of image-guided biopsy on 66 patients (30 female), with a median age of 8.7 years (range, 0.9-49 years), who underwent 95 biopsies (55 bone and 40 soft tissue) of relapsed or refractory neuroblastoma lesions was performed. RESULTS There were seven minor complications (7%) and one major complication (1%). Neuroblastoma was detected in 88% of MIBG- or fluorodeoxyglucose-avid foci. The overall NGS adequacy was 69% (64% in bone and 74% in soft tissue, P = .37). NGS adequacy within neuroblastom...
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e22521 Background: Relapsed and refractory neuroblastoma (NBL) is a prime target for novel therapies targeting specific mutations. The genomic landscape of NBL can change between time of initial diagnosis and relapse, necessitating... more
e22521 Background: Relapsed and refractory neuroblastoma (NBL) is a prime target for novel therapies targeting specific mutations. The genomic landscape of NBL can change between time of initial diagnosis and relapse, necessitating subsequent biopsy and next generation sequencing (NGS) to detect mutations within the relapsed neoplasm. Tissue of insufficient quality and quantity leads to specimen failure during NGS. Thus the goal of this study is to review core needle biopsy for relapsed and refractory NBL in a pediatric interventional radiology department and explore factors that enhance biopsy adequacy. Methods: Retrospective review of clinical records and images for 66 patients (36M, 30F) with median age 8.7 years (range 0.9 – 49.3 y) who underwent 95 biopsies (55 bone, 40 soft tissue) over a 12-year period. Results: Biopsy yield for neuroblastic tissue from 123I mIBG-avid masses was 89.7% overall, 84.9% in bone, and 91.6% in soft tissue. 87/95 masses were mIBG-avid; 2 non-avid ma...
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Objective To examine the association between rachitic changes and vitamin D levels in children less than 2 years old with fractures. Methods Children less than 2 years old who were admitted to a large children’s hospital for a fracture... more
Objective To examine the association between rachitic changes and vitamin D levels in children less than 2 years old with fractures. Methods Children less than 2 years old who were admitted to a large children’s hospital for a fracture and underwent a skeletal survey were included. Two pediatric radiologists blinded to the children’s vitamin D levels independently reviewed the skeletal surveys for the following rachitic findings: demineralization, widened sutures, rachitic rosary, Looser zones, and metaphyseal changes. Kappa coefficients were calculated to assess inter-rater agreement. Logistic regression was used to test the association between vitamin D level and rachitic findings. Results There were 79 subjects (40 female and 39 male) with a median age of 4 months. Vitamin D levels ranged from 11.6 to 88.9 ng/ml and were low in 27. Questionable demineralization was noted in seven subjects; mild to moderate demineralization was observed in four subjects. Widened sutures were noted in seven subjects, many also with concurrent intracranial hemorrhage. Lower vitamin D levels were associated with increased odds of demineralization after adjusting for age, gender, and prematurity ( P < 0.015). An association was not found between the vitamin D level and suture widening ( P = 0.07). None of the cases demonstrated Looser zones, rachitic rosary, or metaphyseal changes of rickets. Conclusions Infants and toddlers with fractures frequently have suboptimal vitamin D levels, but radiographic evidence of rickets is uncommon in these children.
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Congenital Hyperinsulinism (HI) causes severe hypoglycemia in neonates and children. We reviewed our experience with pancreatectomy for the various types of HI. From 1998 to 2018, 500 patients with HI underwent pancreatectomy: 246 for... more
Congenital Hyperinsulinism (HI) causes severe hypoglycemia in neonates and children. We reviewed our experience with pancreatectomy for the various types of HI. From 1998 to 2018, 500 patients with HI underwent pancreatectomy: 246 for focal HI, 202 for diffuse HI, 37 for atypical HI (16 for Localized Islet Nuclear Enlargement [LINE], 21 for Beckwith-Wiedemann Syndrome), and 15 for insulinoma. Focal HI neonates were treated with partial pancreatectomy. Patients with diffuse HI who failed medical management underwent near-total (98%) pancreatectomy. Atypical HI patients had pancreatectomies tailored to the PET scan and biopsy findings. The vast majority of pancreatectomies for focal HI were < 50%, and many were 2%-10%. 97% of focal HI patients are cured. For diffuse disease patients, 31% were euglycemic, 20% were hyperglycemic, and 49% required treatment for hypoglycemia; the incidence of diabetes increased with long-term follow-up. All 15 insulinoma patients were cured. Our approa...
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Kaposiform hemangioendothelioma (KHE) is a rare vascular tumor characterized by aggressive local invasion and a syndrome of platelet trapping known as Kasabach-Merritt phenomenon that, through deposition of platelet derived growth... more
Kaposiform hemangioendothelioma (KHE) is a rare vascular tumor characterized by aggressive local invasion and a syndrome of platelet trapping known as Kasabach-Merritt phenomenon that, through deposition of platelet derived growth factors, may perpetuate the growth of the tumor. Although many cases of KHE are successfully treated with local control or low-intensity chemotherapy, some cases are often refractory even to aggressive treatment. Herein, we describe a patient with a refractory, recurrent KHE despite multiple attempts at local control and intensive chemotherapy, that ultimately was successfully treated with rationally designed and low-intensity combination therapy of sirolimus and aspirin.
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Physicians have an ethical and legal mandate to identify abused children so that they may be protected from further harm and are simultaneously required to think broadly and objectively about differential diagnoses. The medical literature... more
Physicians have an ethical and legal mandate to identify abused children so that they may be protected from further harm and are simultaneously required to think broadly and objectively about differential diagnoses. The medical literature is replete with examples of medical diseases that mimic abuse, potentially leading to misdiagnoses and subsequent harm to children and families. This review highlights some of the common and uncommon diseases that mimic physical and sexual abuse of children.
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Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen.... more
Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand. We propose a new vHL screening paradigm similar to existing approaches, with important modifications for some tumor types, placing an emphasis on risks in childhood. This includes advancement in the timing of surveillance initiation and increased frequency of screening evaluations. Another neuroendocrine-related familial condition is the rapidly expa...
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Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a... more
Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed...
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Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4,... more
Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw tumor (HPT-JT) syndromes. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13.1), and the HPT-JT syndrome is due to pathogenic CDC73 variants (1q25). Although each of these genetic syndromes share the presence of neuroendocrine tumors, each syndrome has a slightly different tumor spectrum with specific surveillance recommendations based upon tumor penetrance, including the age and location for which specific tumor types most commonly present. Although the recommended surveillance strategies for each syndrome contain s...
Research Interests: Adolescent, Medicine, Humans, Child, Risk factors, and 3 moreRisk Factors, Hyperparathyroidism, and Adenoma
Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome, associated with both benign and malignant adrenal findings. Literature review and an institutional case series elucidate the wide spectrum of... more
Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome, associated with both benign and malignant adrenal findings. Literature review and an institutional case series elucidate the wide spectrum of adrenal findings in BWS patients. The altered expression of the 11p15 region is likely related to adrenal gland hyperplasia and growth dysregulation. Given the absence of guidelines for managing adrenal findings in BWS, we propose a systematic approach to adrenal findings in BWS patients, to allow for maximum detection of potentially malignant pathology without posing additional risk to patients.
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The International Neuroblastoma Response Criteria (INRC) require serial measurements of primary tumors in three dimensions, whereas the Response Evaluation Criteria in Solid Tumors (RECIST) require measurement in one dimension. This study... more
The International Neuroblastoma Response Criteria (INRC) require serial measurements of primary tumors in three dimensions, whereas the Response Evaluation Criteria in Solid Tumors (RECIST) require measurement in one dimension. This study was conducted to identify the preferred method of primary tumor response assessment for use in revised INRC. Patients younger than 20 years with high-risk neuroblastoma were eligible if they were diagnosed between 2000 and 2012 and if three primary tumor measurements (antero-posterior, width, cranio-caudal) were recorded at least twice before resection. Responses were defined as ≥ 30% reduction in longest dimension as per RECIST, ≥ 50% reduction in volume as per INRC, or ≥ 65% reduction in volume. Three-year event-free survival for all patients (N = 229) was 44% and overall survival was 58%. The sensitivity of both volume response measures (ability to detect responses in patients who survived) exceeded the sensitivity of the single dimension measur...
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... Conference. Calf Mass in a 2-Year-Old Boy. Schaffer, Alyssa BA*; Erol, Bulent MD**; States, Lisa MD; Pawel, Bruce MD; Dormans, John P. MD**. Article Outline. Collapse Box Author Information. ... References. 1. Austin RM, Mack.
Research Interests: Humans, Male, Orthopedics, Clinical Sciences, Leg, and 4 moreLIPOMA, Related, Nino, and Child preschool
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Research Interests: Medicine, Humans, Child, Lung Diseases, Lung, and 3 moreClinical Sciences, Angiography, and Hemorrhage
Research Interests: Magnetic Resonance Imaging, Leukemia, Adolescent, Metabolic Bone Disease, Humans, and 15 moreChild, Infant, Lead Poisoning, Diagnostic Imaging, Hypothyroidism, Clinical Sciences, Infiltration, Rickets, Renal Osteodystrophy, Beta Thalassemia, Nuclear Magnetic Resonance Imaging, Gaucher Disease, Nino, Child preschool, and Hypophosphatasia
Primary lymphomas of the bone are rare in children, but have an excellent response to therapy. Evaluating patients for remission and recurrence can be challenging given the difficulties of distinguishing healing bone from residual tumor... more
Primary lymphomas of the bone are rare in children, but have an excellent response to therapy. Evaluating patients for remission and recurrence can be challenging given the difficulties of distinguishing healing bone from residual tumor on imaging. A review of imaging in patients treated for primary bone lymphoma (PBL) in one center was performed in an effort to determine best practice. Twelve cases of PBL diagnosed and treated from 2000 to 2011 at the Children&amp;amp;amp;amp;amp;amp;amp;amp;#39;s Hospital of Philadelphia were identified. Information about presentation, histology, imaging, treatment, and outcomes was collected. There were no recurrences of the primary bone tumor after therapy. One patient developed therapy-related AML. Although PET-avid lesions usually fell below a SUVmax of 3 within 3 months, low-level SUVmax lesions often remained up to 12 months post-therapy. At no point during therapy did radiographs, MRI, bone scans or CT of bones normalize, most remaining abnormal for several months to years. Patients were exposed to significant ionizing radiation, with estimated levels ranging from 9.5 to 183.1 mSv per patient. Over 10% of scans had incidental findings, which led to 17 extra imaging studies and 4 biopsies, but no clinically significant outcomes. In our cohort, frequent imaging did not affect or improve outcome. Due to the low risk of relapse and high rate of repeated imaging for incidental findings, minimization of post-therapy imaging should be considered. This modification in practice will significantly reduce radiation exposure, as well as potentially decrease parent and patient anxiety.
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North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Annual Meeting, October 19-22, 2006, Orlando, Florida: Abstracts: POSTER SESSION I, THURSDAY, OCTOBER 19, 2006, 5 pm-7 pm: Pancreas/Cystic Fibrosis: 59
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Fetal magnetic resonance imaging is becoming more used in the evaluation of complex fetal abnormalities. Rapid advances in the technology and application of fetal magnetic resonance imaging necessitate a review of this subject.... more
Fetal magnetic resonance imaging is becoming more used in the evaluation of complex fetal abnormalities. Rapid advances in the technology and application of fetal magnetic resonance imaging necessitate a review of this subject. Diffusion-weighted imaging, magnetic resonance spectroscopy and functional magnetic resonance imaging may allow assessment of fetal brain even before anatomical abnormalities are demonstrated. We discuss the uses of fetal magnetic resonance imaging in better assessment of pulmonary hypoplasia, congenital diaphragmatic hernia and renal anomalies. The additional information from fetal magnetic resonance imaging, beyond that obtained by ultrasound, is invaluable in prenatal counseling, delivery planning and planning for pre- or postnatal intervention. As intrauterine and neonatal surgery evolve, so will the utilization of fetal magnetic resonance imaging.
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317 A 13-year-old boy reported right knee pain for 3 weeks before presenting to the authors’ institution. He previously was admitted to another institution for evaluation, where plain radiographs and magnetic resonance imaging (MRI) scans... more
317 A 13-year-old boy reported right knee pain for 3 weeks before presenting to the authors’ institution. He previously was admitted to another institution for evaluation, where plain radiographs and magnetic resonance imaging (MRI) scans were taken. Radiologic studies revealed a destructive bone lesion on the right proximal fibula, and subsequently the patient was referred to the current authors’ institution for additional evaluation. The knee pain gradually had worsened with time, and the patient could not bear weight on his right leg. The patient presented to the emergency room of the authors’ institution before the date of appointment because of severe knee pain. The child otherwise was healthy with no previous major illnesses, injuries, or surgeries. He was the product of a full-term, uncomplicated pregnancy, and his developmental and family histories were noncontributory. On physical examination, the patient was a healthy appearing boy who reported moderate to severe pain over the area of the right proximal fibula. He was unable to bear weight on his right lower extremity. The neurovascular Orthopaedic • Radiology • Pathology Conference CME ARTICLE
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323 A 13-year-old girl reported low back pain and unintentional 15 lb weight loss for 7 months before presenting to the authors’ institution. She had been admitted to another institution for evaluation, where radioisotope bone scanning,... more
323 A 13-year-old girl reported low back pain and unintentional 15 lb weight loss for 7 months before presenting to the authors’ institution. She had been admitted to another institution for evaluation, where radioisotope bone scanning, MRI, and CT scanning were done. A CT-guided biopsy of the pelvis was done at the outside institution and revealed atypical lymphoid cells without a final diagnosis. On the day of presentation to the authors’ institution, the patient continued to complain of a mild low back pain. The patient was healthy otherwise with no previous injuries, major illnesses, or surgeries. Developmental, social, and family histories were noncontributory. On physical examination, the patient was a chronically ill, pale appearing girl who reported mild pain over the lumbosacral region. There was no numbness or tingling of the lower extremities. The neurovascular examination was normal. No soft tissue mass or tender area was detected. The patient had full ROM of both hips. Her gait was normal. Her abdomen was soft and nontender without masses or hepatosplenomegaly. There was no lymphadenopathy noted. Laboratory tests revealed a leukocyte count of 11,800 mL (normal, 4500–13,500 mL), a hemoglobin level of 9.6 g/dL (normal, 11.5–15.5 g/dL), a platelet count of 348,000 (normal, 140,000–440,000), and an erythrocyte sedimentation rate of 47 mm per hour (normal, 0–20 mm/hour). Prothrombin time and international normalized ratio were 14.6 seconds (normal, 9.4–12.5 seconds), and 1.3 (normal, 2.0–3.5), respectively. Biochemical and urine profiles were within normal levels. Plain radiographs, MRI scans, CT scans of the patient’s pelvis, and a radioisotope bone scan obtained before the first CT-guided biopsy are shown in Figures 1 through 6. Based on the history, physical examination, laboratory tests, and imaging studies, what is the differential diagnosis? Orthopaedic • Radiology • Pathology Conference
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From the 1 Clinical Research Coordinator, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA; 1 Attending Physician, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia,... more
From the 1 Clinical Research Coordinator, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA; 1 Attending Physician, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA; 1 Attending Radiologist, Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, PA; 1 Assistant Professor of Pathology and Laboratory Medicine University of Pennsylvania Staff Pathologist, The Children's Hospital of Philadelphia, Philadelphia, PA; and 1 Chief, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA.
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Here we describe three subjects with mosaic genome-wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity of findings and the... more
Here we describe three subjects with mosaic genome-wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity of findings and the presence of additional features, SNP array testing was performed, which demonstrated mosaic GWpUPD. Comparing these individuals to 10 other live-born subjects reported in the literature, the predominant phenotype is that of pUPD11 and notable for a very high incidence of tumor development. Our subjects developed non-metastatic tumors of the adrenal gland, kidney, and/or liver. All three subjects had pancreatic hyperplasia resulting in HI. Notably, our subjects to date display minimal features of other diseases associated with paternal UPD loci. Both children who survived the neonatal period have displayed near-normal cognitive development, likely due to a favorable tissue distribution of the mosaicism. To understand the range of UPD mosaicism levels, we studied multiple tissues using SNP array analysis and detected levels of 5-95%, roughly correlating with the extent of tissue involvement. Given the rapidity of tumor growth and the difficulty distinguishing malignant and benign tumors in these GWpUPD subjects, we have utilized increased frequency of ultrasound (US) and alpha-fetoprotein (AFP) screening in the first years of life. Because of a later age of onset of additional tumors, continued tumor surveillance into adolescence may need to be considered in these rare patients.
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The chromosome abnormality, deletion of 22q11.2, is one of the most common genetic syndromes. The 22q11.2 deletion syndrome encompasses a wide spectrum of abnormalities including cardiac, palate, and immunological anomalies. The purposes... more
The chromosome abnormality, deletion of 22q11.2, is one of the most common genetic syndromes. The 22q11.2 deletion syndrome encompasses a wide spectrum of abnormalities including cardiac, palate, and immunological anomalies. The purposes of the current study were (1) to define and determine the frequency of variations of the occiput and cervical spine on plain radiographs in patients with the 22q11.2 deletion syndrome and (2) to postulate the potential clinical importance of these variations. Seventy-nine consecutive patients with the 22q11.2 deletion underwent clinical and radiographic evaluation of the occiput and cervical spine. Radiographic studies included lateral plain radiographs of the cervical spine in neutral, flexion, and extension; anteroposterior radiographs; and open-mouth odontoid radiographs. At least one developmental variation of the occiput or cervical spine was observed in every patient. The occipital variations were platybasia in fifty-two (91%) of the fifty-sev...