706 results match your criteria bilateral dysplastic

PIEZO1-gene gain-of-function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings.

Am J Med Genet A 2021 Sep 3. Epub 2021 Sep 3.

Service d'Hématologie Biologique, APHP, CHU Bicêtre, Le Kremlin-Bicêtre, France.

Primary lymphedema, a rare disease, has a genetic cause in ~40% of patients. Recently, loss-of-function mutations in PIEZO1, which encodes the mechanotransducer protein PIEZO1, were described as causing primary lymphedema, when gain-of-function PIEZO1 mutations were attributed to dehydrated hereditary stomatocytosis type-1 (DHS), a dominant red cell hemolytic disorder, with ~20% of patients having perinatal edema. Lymphedema was diagnosed in a 36-year-old man from a three-generation DHS family, with a PIEZO1-allele harboring 3 missense mutations in cis. Read More

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September 2021

Revision Total Hip Arthroplasty due to Catastrophic Osteolysis Caused by Massive Chronic Expanding Hematoma.

Arthroplast Today 2021 Oct 16;11:32-37. Epub 2021 Aug 16.

Department of Orthopedic Surgery, Nishinomiya Kaisei Hospital, Nishinomiya City, Hyogo, Japan.

An 84-year-old woman who underwent bilateral cementless total hip arthroplasty (THA) for dysplastic osteoarthritis 22 years ago was subjected to analysis. A huge soft-tissue mass was revealed in her left medial thigh. Plain radiographs of the left hip joint revealed severe osteolysis around the stem, cup, and ischium. Read More

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October 2021

An Inverted Acetabular Labrum Is Predictive of Pavlik Harness Treatment Failure in Children With Developmental Hip Dysplasia.

J Pediatr Orthop 2021 Sep;41(8):479-482

Children's Orthopaedic Center.

Introduction: The failure rate of Pavlik harness treatment for developmental dysplasia of the hip (DDH) has been reported as high as 55%. The purpose of this study is to investigate the effect of an inverted acetabular labrum on outcomes of Pavlik harness treatment for DDH.

Methods: A retrospective review was conducted on DDH patients at a tertiary care pediatric hospital from 2004 to 2016. Read More

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September 2021

Genetic Association and Role of Surgery for the Treatment of Lower Limb Deformities in Diastrophic Dysplasia: A Case Report.

J Orthop Case Rep 2021 Feb;11(2):81-85

Department of Pediatrics, All India Institute of medical Sciences, Rishikesh, Uttarakhand, India.

Introduction: Diastrophic dysplasia (DTD) results from SCN26A2 gene mutation, with autosomal recessive inheritance and widely variable phenotype. The gene has been mapped to chromosome 5q32-q33.1. Read More

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February 2021

Neonatal Renal Failure in the Setting of Anorectal Malformation: A Case Report and Literature Review.

Cureus 2021 May 12;13(5):e14984. Epub 2021 May 12.

Pediatric Surgery, University of Missouri Kansas City School of Medicine, Kansas City, USA.

Anorectal malformations (ARMs) can occur in isolation or in association with other anomalies, most commonly those of the genitourinary systems. Morbidity and mortality are highest among patients who develop end-stage renal disease (ESRD) either from severe congenital anomalies (dysplastic kidneys) or from repeated infections in those who have vesicoureteral reflux or persistent recto-urinary fistulas. We describe our management strategy for a patient born with an ARM and bilateral dysplastic kidneys to highlight the nuances and complex decision-making considerations required in taking care of this complex patient population. Read More

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The correlations of prenatal renal ultrasound abnormalities with pathogenic CNVs in a large Chinese cohort.

Ultrasound Obstet Gynecol 2021 Jun 5. Epub 2021 Jun 5.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control Institute, No59, Xiangzhu Road, Nanning, China.

Objective: Our retrospective study aimed to assess the prenatal clinical utility of chromosome microarray (CMA) and the correlations of pathogenic copy number variants (CNVs) with different types of renal abnormalities detected by prenatal ultrasound screening and help to guide the optimal management for the relative late invasive diagnostic approach for renal abnormalities.

Methods: Fetus at 14-36 weeks of gestation were routinely screened for renal and other structural abnormalities at the Maternal and Child Health Hospital of Guangxi Autonomous Region. 877 fetuses with abnormal renal sonographic findings identified over a period of more than five years were subjected for CMA analysis using materials obtained from chorionic villi sampling, amniocentesis or cordocentesis. Read More

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Hybrid Retroperitoneoscopic Pyeloplasty for Congenital Ureteropelvic Junction Obstruction in Infants Weighing Less than 10 kg.

J Laparoendosc Adv Surg Tech A 2021 Jul 27;31(7):843-848. Epub 2021 May 27.

Division of Pediatric Surgery, Department of Surgery, Taichung Veterans General Hospital, Taichung, Taiwan, Republic of China.

Success rate of laparoscopic pyeloplasty for ureteropelvic junction obstruction (UPJO) in children is comparable with open pyeloplasty. Prolonged ileus and injury to adjacent viscera more often occurred in transperitoneal approach; however, longer operation time is noted in retroperitoneal approach. This study presented a hybrid retroperitoneoscopic pyeloplasty (HRP), for congenital UPJO in infants weighing <10 kg. Read More

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Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery.

BMC Anesthesiol 2021 05 26;21(1):162. Epub 2021 May 26.

Department of Anaesthesiology, Intensive Care Medicine and Pain Therapy, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.

Background: Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and severe mental retardation. Until now, less than 100 cases have been reported.

Case Presentation: A 22-month old male infant with NCBRS underwent elective cleft palate surgery. Read More

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Myelodysplastic syndrome in a 30-year-old man with coronavirus disease 2019 (COVID-19): a diagnostic challenge.

Autops Case Rep 2021 Apr 20;11:e2021274. Epub 2021 Apr 20.

Harbor-UCLA Medical Center, Department of Internal Medicine, Torrance, CA, USA.

Background: Myelodysplastic syndromes (MDS) mainly occur in the elderly but can rarely affect younger individuals too. The correct diagnosis relies on careful morphologic evaluation, cytogenetic/molecular results, and excluding reactive conditions mimicking MDS. We present the clinical, pathologic, cytogenetic, and molecular features of a case of MDS with excess blasts-2 (MDS-EB-2) in a 30-year-old male who was found to have pancytopenia during his hospitalization for coronavirus disease 2019 (COVID-19) and discuss the diagnostic challenges of MDS in patients with COVID-19. Read More

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Postnatal outcome of prenatally-detected "simple" renal cysts: Are they really simple?

Early Hum Dev 2021 Jun 4;157:105382. Epub 2021 May 4.

Department of Paediatric Surgery and Urology, Chelsea and Westminster Hospital NHS Foundation Trust, 369 Fulham Road, London SW10 9NH, UK; Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, Du Cane Road, London W12 0HS, UK. Electronic address:

Background: The majority of simple renal cysts diagnosed postnatally are asymptomatic and rarely require treatment unless they become symptomatic or complex. We hypothesised that prenatally-detected simple renal cysts would have a similar harmless outcome.

Aims: To establish the natural history and postnatal outcome of prenatally-diagnosed simple renal cysts. Read More

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Total hip arthroplasty for dysplastic coxarthrosis using a cementless Wagner Cone stem.

J Orthop Traumatol 2021 Apr 17;22(1):16. Epub 2021 Apr 17.

Department of Basic Medical Sciences, Neuroscience and Organs of Sense, School of Medicine, AOU Policlinico Consorziale, Università Di Bari "AldoMoro", Piazza Giulio Cesare n.11, 70124, Bari, Italy.

Background: Total hip arthroplasty (THA) is currently the best surgical option for hip osteoarthritis secondary to developmental hip dysplasia (DDH); it may be extremely challenging, because of the hypoplasic proximal metaphysis, pathological anteversion, and excessive cervico-diaphyseal angle of the neck at the femoral side. The purpose of this retrospective study was to evaluate the long-term survival and clinical and radiological results of Conus uncemented stems, implanted in patients affected by hip osteoarthritis with Crowe not-type IV secondary to DDH.

Material And Methods: We identified 100 consecutive THAs performed for DDH in 63 women and 24 men, with an average age of 53 years in a single center. Read More

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Predictors of poor neonatal outcomes in fetuses diagnosed with congenital urinary tract anomalie.

Ginekol Pol 2021 Apr 12. Epub 2021 Apr 12.

Clinic for Gynecology and Obstetrics, Clinical Center of Niš, Serbia.

Objectives: Urinary tract anomalies account for approximately one-quarter of all antenatally detected anomalies. The aim of this study was to identify factors associated with severe adverse neonatal outcomes of a prenatally diagnosed urinary tract anomaly.

Material And Methods: A retrospective-prospective study included 101 pregnant women with prenatally diagnosed fetal urinary tract anomalies presented to the Council for Fetal Anomalies. Read More

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Crossed unfused renal ectopia with pelviureteric junction obstruction associated with nephrolithiasis: a rare troublesome triad managed by robotic surgery.

BMJ Case Rep 2021 Apr 8;14(4). Epub 2021 Apr 8.

Radiodiagnosis, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

We report a rare case of non-fused renal ectopia with pelviureteric junction obstruction and multiple pelvic and renal calculi thereby discussing vascular anatomy of the non-fused ectopic kidney along with robot assisted surgical management of this rare clinical entity which amounts for good preoperative workup for best surgical and clinical outcome. Read More

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Functional and radiographical results of asymmetrically reconstructed total hip arthroplasty in patients with bilateral dysplastic arthritic hips with one hip Crowe II-III and the other Crowe IV: a retrospective cohort study.

J Orthop Traumatol 2021 Mar 13;22(1):11. Epub 2021 Mar 13.

Medical School of Chinese People's Liberation Army, Beijing, 100853, China.

Background: The study aimed to evaluate the functional and radiographical results of asymmetrically reconstructed total hip arthroplasty in patients with bilateral dysplastic arthritic hips with one hip Crowe II-III and the other hip Crowe IV.

Materials And Methods: From April 2006 to April 2019, we evaluated 23 patients who had a reconstruction of one Crowe II-III hip with high hip center (HHC) and the other Crowe IV hip at the anatomical position (H group). The radiographic and clinical outcomes were compared with those of a control group of 19 patients with bilateral dysplasia who had one Crowe IV hip and the contralateral hip both reconstructed in the anatomical position (A group). Read More

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Diagnosing nail-patella syndrome: can it be so simple?

BMJ Case Rep 2021 Mar 10;14(3). Epub 2021 Mar 10.

Neonatology, All India Institute of Medical Sciences Jodphur, Jodhpur, Rajasthan, India.

We describe here an interesting case of a 7-day-old male infant brought with parental concerns of inability to extend both knees. Clinical evaluation revealed dysplastic fingernails, bilateral abnormal patellae, triangular lunules in conjunction with pathognomic iliac horns on pelvic radiographs suggesting the possibility of nail-patella syndrome (NPS). Other competing diagnoses with similar phenotypic features were considered and sequentially excluded. Read More

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Compensatory renal hypertrophy in reflux nephropathy presenting as hypertensive emergency.

Oxf Med Case Reports 2021 Feb 15;2021(2):omaa132. Epub 2021 Feb 15.

Advanced Medical and Dental Institute, Universiti Sains Malaysia, Kepala Batas, Penang, Malaysia.

Hypertensive emergency in the paediatric population is not uncommon. However, due to its numerous etiologies, care should be taken in determining the approach of management. We report a case of a child who presented with double vision, giddiness and elevated blood pressure. Read More

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February 2021

A Comparative Study of Salter Versus Pemberton Osteotomy in Open Reduction of Developmental Dysplastic Hips and Clinical Evaluation on Bhatti's Functional Score System.

Cureus 2021 Jan 11;13(1):e12626. Epub 2021 Jan 11.

Orthopaedic Surgery, Lyari General Teaching Hospital, Karachi, PAK.

Objective The study was aimed to compare the outcome of Salter's and Pemberton's osteotomy to achieve adequate acetabular coverage in the open reduction of developmental dysplastic hips (DDH). The functional outcome was evaluated as measured on Bhatti's Functional Score System (BFSS). Patients and methods The study includes 60 children with 82 hips of developmental dysplasia in walking-age children. Read More

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January 2021

Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

J Pediatr Genet 2021 Mar 22;10(1):39-44. Epub 2020 Jan 22.

Neonatology Service, Centro Materno Pediátrico, Centro Hospitalar Universitário São João, Porto, Portugal.

The deletion of the long arm of chromosome 4 is rare, presenting with a variable phenotype depending on the chromosomic area affected. A term newborn with prenatal diagnosis of anhydramnios, dysplastic cystic kidneys, and cardiomegaly was born with generalized subcutaneous edema, several dysmorphic features, and progressive renal failure requiring dialysis. The infant continued to deteriorate and died at 52 days of age. Read More

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Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic Mutations Always a Unilateral Disorder?

Neurol Genet 2021 Feb 8;7(1):e540. Epub 2020 Dec 8.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and "C. Munari" Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.

Objective: To alert about the wide margin of unpredictability that distribution of somatic mosaicism may have in the brain and the risk for independent epileptogenesis arising from the seemingly healthy contralateral hemisphere after complete removal of epileptogenic focal cortical dysplasia (FCD).

Methods: Clinical, EEG, MRI, histopathology, and molecular genetics in 2 patients (1 and 2) treated with focal resections and subsequent complete hemispherectomy for epileptogenic FCD due to somatic mutations. Autoptic brain study of bilateral asymmetric hemispheric dysplasia and identification of alternative allele fraction (AAF) rates for (patient 3). Read More

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February 2021

Factors Influencing Outcomes of the Dysplastic Hip in Nonambulatory Children With Cerebral Palsy.

J Pediatr Orthop 2021 Apr;41(4):221-226

Motion Analysis Center, Shriners Hospitals for Children.

Background: Hip dysplasia in the nonambulatory child with spastic cerebral palsy (CP) is a common condition not always effectively treated with conservative measures even when recognized early. Optimal surgical intervention strategies and timing are not clear from previous studies. Contralateral hips with less severe subluxation in these patients also often undergo surgery and little is known of outcomes of these less severe hips. Read More

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Massive Retinal Gliosis in an Infant Microphthalmic Globe: A Case Report.

Am J Case Rep 2021 Jan 26;22:e929363. Epub 2021 Jan 26.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

BACKGROUND Massive retinal gliosis (MRG) is a rare benign intraocular tumor that results from the proliferation of well-differentiated glial cells in response to long-standing pathological processes, including glaucoma, trauma, chronic inflammation, vascular disorders, and congenital anomalies. This lesion is considered to be nonneoplastic and occurs ≥10 years after the predisposing insult. It usually affects children and can mimic other conditions, including uveal melanomas, vasoproliferative tumors of the retina, astrocytic hamartomas, and retinal hemangioblastomas. Read More

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January 2021

Quantifying the Effects of Hip Surgery on the Sphericity of the Femoral Head in Patients with Mucopolysaccharidosis Type I.

J Bone Joint Surg Am 2021 03;103(6):489-496

Departments of Orthopedic Surgery (E.L.v.d.V., H.W., and R.J.B.S.), Radiology (E.J.B.), and Pediatrics (P.M.v.H.), University Medical Center Utrecht, Utrecht, the Netherlands.

Background: The introduction of stem cell transplantation has improved life expectancy and cognitive outcome in patients with mucopolysaccharidosis I, but this condition remains associated with substantial residual disease in several parts of the body. Many patients have hip dysplasia with progressive medial flattening of the femoral head. Quantitative evidence on the effect of surgery on remodeling to sphericity of flattened femoral heads is lacking. Read More

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An incidental finding of intraocular choristoma in an enucleated microphthalmic globe: A histopathologic case report.

Int J Surg Case Rep 2021 Feb 6;79:70-72. Epub 2021 Jan 6.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.

Introduction And Importance: Choristomas are benign growth of normal tissue in abnormal location and in the ophthalmic practice, they are more commonly found in the epibulbar region. Intraocular choristoma has been reported in different ocular structures but it is very rare especially in association with microphthalmos.

Case Presentation: We present a 13-month-old child with bilateral microphthalmia with the left side being more significantly smaller than the right that required enucleation for introducing a larger silicone implant. Read More

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February 2021

Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.

Am J Kidney Dis 2021 07 6;78(1):125-141. Epub 2021 Jan 6.

Department of Medicine, Nephrology, University Hospital Freiburg, Germany; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.

Renal cystic disease encompasses a large variety of illnesses with various phenotypic expressions that can manifest in utero, in infancy, and in childhood. These diseases may be unilateral or bilateral and present with single or multiple cysts. Various cystic diseases may also progress to chronic kidney disease (CKD), including kidney failure, and hepatic disease, thus potentially being life threatening. Read More

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Pedicular lumbosacral spine fusion for adult/adolescent lumbar developmental high-grade spondylolisthesis.

Surg Neurol Int 2020 4;11:416. Epub 2020 Dec 4.

Department of Neurosurgery, Faculty of Medicine, Benha University, Benha, Al Qalubia, Egypt.

Background: Few series report on the management of high-grade spondylolisthesis (HGS) in adolescents and young adults. This review highlights a series of six consecutive cases with developmental (dysplastic) HGS successfully managed with L3 or L4 to S1 transpedicular screw placement, rather than /noninstrumented lumbosacral fusion.

Methods: The six patients with HGS, according to the Meyerding Grading, presented with low back pain and bilateral sciatica (2016-2020). Read More

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December 2020

Bilateral pulmonary sequestration complicated with a bibasal pneumonia in an adult patient.

Radiol Case Rep 2021 Mar 17;16(3):457-460. Epub 2020 Dec 17.

Department of Radiology, AZ Delta campus Rumbeke, Deltalaan 1, 8800 Roeselare, Belgium.

Pulmonary sequestrations (PS) are rare congenital pulmonary malformations, characterized by non-functioning and dysplastic pulmonary tissue, without a normal connection to the tracheobronchial tree and supplied by the systemic arterial circulation. PS typically occur in the lower lobes and the radiologist should consider the possibility of a PS in a patient with persistent or recurrent pneumonia in the lower lobes, especially in children. We hereby present a rare case of bilateral intralobar PS complicated with bilateral pneumonia, in a previously healthy 37-year-old male patient, who was referred to the emergency department by his general practitioner because of persisting dyspnea and fever. Read More

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COVID-19 in Children With Kidney Disease: A Report of 2 Cases.

Kidney Med 2021 Jan-Feb;3(1):120-123. Epub 2020 Nov 21.

Pediatric Nephrology Division at the Children's Hospital at Montefiore, Bronx, NY.

The presentation of novel coronavirus disease 2019 (COVID-19) in children with kidney disease is largely unknown. We report on 2 children with kidney disease not receiving long-term immunosuppression who were hospitalized due to COVID-19. The first case is an infant with end-stage kidney disease secondary to bilateral cystic dysplastic kidneys and posterior urethral valves receiving peritoneal dialysis, with a history of prematurity previously requiring mechanical ventilation in the neonatal intensive care unit, who presented with fever, hypertension, and emesis. Read More

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November 2020

Sagittal spinal-pelvic alignment in patients with Crowe type IV developmental dysplasia of the hip.

BMC Musculoskelet Disord 2020 Oct 17;21(1):688. Epub 2020 Oct 17.

Department of Orthopaedics, the First Medical Center, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853, China.

Background: The impact of high dislocated dysplastic hips on spinal-pelvic alignment has not been well described. This study aims to evaluate compensatory spinal radiographic changes and presence of back pain in patients with Crowe type IV developmental dysplasia of the hip (DDH).

Methods: An observational study was conducted from July 2016 to December 2017, and 49 consecutive patients with Crowe IV DDH were enrolled. Read More

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October 2020

Renal cystic diseases during the perinatal and neonatal period.

J Neonatal Perinatal Med 2021 ;14(2):163-176

Department of Medicine, Nephrology, University Hospital Freiburg, Freiburg, Germany.

Renal cystic diseases are a clinically and genetically diverse group of renal diseases that can manifest in utero, infancy, or throughout childhood and adulthood. These diseases may be unilateral or bilateral with a single cyst or multiple cysts, or with increased echogenicity of the renal cortex without macroscopic cysts. Certain cystic renal diseases are life-threatening, with many developing chronic kidney and hepatic disease if not recognized early enough. Read More

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January 2021

TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.

Mol Genet Genomic Med 2020 11 2;8(11):e1486. Epub 2020 Sep 2.

Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada.

Background: Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under-recognized and under-reported. Read More

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November 2020