Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.

This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis. A literature review was conducted to explore GDD's clinical and paraclinical presentation, diagnosis, and management. GDD is a rare but frequently inherited cause of bone fragility and jaw lesions characterized by a gain-of-function variant within the ANO5 gene. Clinical manifestations range from recurrent dental infections with mild jaw lesions to severe bone fragility with several fractures associated with large jaw lesions requiring disfiguring surgeries. Diagnostic techniques depend on the context and include targeted genetic testing of ANO5, untargeted molecular analysis with whole-exome sequencing, or whole-genome sequencing. This case report highlights the importance of recognizing GDD as a novel cause of bone bowing and fractures during pregnancy. By summarizing the literature, this article contributes to healthcare professionals' knowledge and improves the recognition, diagnosis, and care of patients with GDD.

Imaging characteristics of too-long anterior process syndrome in children and adolescents.

BACKGROUND: In the presence of pain over the lateral aspect of the foot or recurrent ankle sprain in children, medical imaging is often employed to investigate potential causes, such as a calcaneonavicular coalition or a too-long anterior process (TLAP) of the calcaneus. Diagnosis and categorization of calcaneonavicular coalitions (synostosis, synchondrosis, or synfibrosis) is generally facilitated through imaging, in contrast to TLAP, which lacks well-defined semiological characteristics, apart from a calcaneonavicular space measurement of less than 5 mm. However, this measurement initially performed on an oblique view radiograph can be subject to a lack of precision due to positional variations of the foot and overlapping bones. Furthermore, the differentiation between TLAP as an anatomical variant and TLAP syndrome (characterized by symptomatic presentation), remains a subject of uncertainty. OBJECTIVE: The objective of our retrospective study was to investigate the imaging diagnosis of TLAP syndrome. MATERIALS AND METHODS: A retrospective unmatched case-control study was conducted, covering data from February 2014 to January 2021. All patients, included retrospectively and consecutively, were initially managed in our hospital with radiography and/or computed tomography (CT) and/or magnetic resonance imaging (MRI). Two radiologists independently reviewed the images taken (radiographs, CT scans, and MRIs) of patients undergoing treatment in pediatric orthopedics for TLAP syndrome and control subjects, utilizing a standardized questionnaire. The control group consisted of subjects with no features suggestive of TLAP syndrome. The questionnaire included measurements of the calcaneonavicular space and identification of indirect signs associated with calcaneonavicular coalitions, as described in the related literature. RESULTS: A total of 128 patients who met the inclusion criteria were included in the analysis, including 38 patients and 90 controls. The prevalence of TLAP was 71.5% in the study population and 62.6% among controls. A threshold measurement of the calcaneonavicular space at 3.2 mm favored TLAP syndrome (sensitivity=97%, specificity=70%, area under the curve [95% confidence interval] =0.881[0.812-0.949]), with better precision using CT. Three indirect signs were significant: the "anteater nose" sign, the talar beak, and the tapered anterior calcaneal process. These signs demonstrated an even stronger association with TLAP syndrome when observed in conjunction with a reduction in the calcaneonavicular space, particularly in CT scans. CONCLUSION: TLAP is common among control subjects. Therefore, a variant appears to be the most plausible explanation and it can be considered a mild form of calcaneonavicular coalition. However, in conjunction with symptoms suggestive of TLAP syndrome, the diagnosis is further supported by imaging, specifically with a calcaneonavicular space measurement of less than 3.2 mm. This measurement is most accurately obtained using CT with 2-dimensional reconstructions in all three planes. The simultaneous presence of the "anteater nose" sign, the talar beak, or the tapered anterior calcaneal process provides additional diagnostic evidence. In the diagnostic approach of calcaneonavicular coalition, oblique foot radiography seems useful in initially detecting abnormal coalition (bony or not), and complementarily, CT emerges as the best modality to characterize TLAP syndrome.

Metaphyseal and Diaphyseal Contours: Variants and Pitfalls.

We discuss several variants of the metaphyseal and diaphyseal bone surfaces that may be misleading in clinical practice. They include metaphyseal stripes, spiculated metaphyseal cortex, cortical desmoid, laminated lateral supracondylar ridge, cortical vascular canals, variations in shape or lucency of normal tuberosities, cortical thickening of normal ridges, and well-organized undulated hyperostosis at the proximal phalanges.

The too-long anterior process and osteochondral lesion of the talus: Is there an anatomical predisposition? A case-control study on 135 feet.

INTRODUCTION: The too-long anterior process (TLAP) increases mechanical stress on the hindfoot and could lead to osteochondral lesions of the talus (OLT) by localized hyper-pressure. The purpose of this study is to investigate an association between TLAP and OLT in children. METHODS: This is a retrospective, multicenter, case-control study conducted between 2010 and 2020. The OLT group was compared to a control group (CoG). TLAP is characterized by a distance between the anteromedial process of the calcaneus and the navicular bone (CN) of< 5 mm. RESULTS: Forty-three feets were included in the OLT group and 92 in the CoG. The OLT group had a lower CN distance on CT than the CoG, a median of 2.8 mm versus 3.75 mm (p = 0.002); 86% of patients (37 feet/43) in the OLT group had a CN distance of< 5 mm (OR=3.0 [1.1; 9.5], p = 0.023) compared to 67% in the CoG. DISCUSSION: The OLT group had an increased risk of developing TLAP compared to the CoG. LEVEL OF EVIDENCE: III.

Congenital and Developmental Abnormalities of the Hand and Wrist.

Identification of congenital skeletal abnormalities is complex because of the large variety of individual syndromes and dysplasias that are often difficult to remember. Although a correct diagnosis relies on a combination of clinical, radiologic, and genetic tests, imaging plays an important role in selecting those patients who should be referred for further genetic counseling and expensive genetic tests. In addition to information derived from radiologic analysis of other skeletal elements, radiographs of the hand and wrist may provide particular useful information. In the first part of this article, we provide a guide for a systematic radiologic analysis of the hand and wrist bones that may help characterize congenital and developmental diseases. Special attention is given to the use of correct terminology. In the second part, we discuss typical examples of congenital and developmental diseases involving the hand and wrist, with an emphasis on skeletal dysplasias.

Chest computed tomography findings for a cohort of children with pulmonary Langerhans cell histiocytosis.

OBJECTIVE: This study was undertaken to describe the spectrum of lung computed-tomography (CT) findings in children with pulmonary Langerhans cell histiocytosis (PLCH) and to evaluate for this population the CT-scan nodule and cyst scores proposed by adult pulmonologists at diagnosis and during follow-up. METHODS: Among 175 children with PLCH identified in the French national population-based Langerhans cell histiocytosis cohort, 60 were retrospectively selected by the availability of CT for a central review by three pediatric radiologists. These 60 patients are representative of childhood PLCH for almost all clinical aspects, except a lower percentage of risk organ involvement (38% vs 54%; P = 0.05). RESULTS: The 60 children's chest CT scans (n = 218) were reviewed. At diagnosis, 63% of them had nodules, 53% had cysts, and 29% had both. The percentages of patients with nodules or cysts increased from diagnosis to peak disease activity, respectively, from 63% to 73% and from 53% to 66%. The costophrenic angle was involved in 71%. Patients with pneumothorax (25%) had a higher median cyst score. Alveolar consolidation was observed in 34%. Patients with low CT-scan nodule and cyst scores had no long-term pulmonary sequelae. CONCLUSIONS: Well-known characteristics of adult PLCH (nodules and cysts) were observed in children. The chest CT scores proposed by adult pulmonologists could easily be applied to childhood PLCH. Lesions in children, unlike those in adults, are frequently located near the costophrenic angles. Alveolar consolidation might be considered an atypical feature of childhood PLCH.

Assessment of micro-dose biplanar radiography in lower limb measurements in children.

OBJECTIVES: To evaluate in children microdose protocol compared with low dose for lower limb alignment (LLA) measurements on biplanar radiography. METHODS: Children 6 years or older were included. Height, weight and hip width were measured prior to imaging. Hip width allowed classifying children into morphotype M1 (width <25 cm), M2 (25-35 cm) or M3 (>35 cm) corresponding to predefined acquisition parameters (kV, mA, tube speed). Micro- and low-dose protocols were used alternately, with simultaneous acquisition of frontal and lateral radiographs. LLA measurements were performed by two independent observers (n = 526). In 15 children per morphotype, a third observer performed measurements twice (n = 180). Intraclass correlation coefficients and the dose (delivered, absorbed) were calculated. RESULTS: 100 girls and 160 boys (mean age = 11.7 years) were investigated: 74 M1 (mean BMI, 15.7kg/m2), 149 M2 (19.8 kg/m2) and 40 M3 (30.2 kg/m2). With microdose, inter- and intra-observer agreement was >0.90 for lengths whatever the morphotype, 0.75-0.90 (M1) and >0.90 (M2, M3) for valgus/varus and flexion/hyperextension deviations. Dose reduction reached a factor of 8.5 and 5.4 for the delivered and absorbed dose respectively. CONCLUSIONS: Microdose could be used for LLA measurements in children and permits a significant dose reduction. KEY POINTS: • Lower limb lengths of children can be evaluated with microdose biplanar radiography. • Valgus/varus deviations also can be evaluated with microdose biplanar radiography. • Microdose biplanar radiography significantly reduces delivered and absorbed dose in children.

Imaging Features of the Juvenile Inflammatory Arthropathies.

We discuss the imaging of several juvenile inflammatory arthropathies including juvenile idiopathic arthritis, juvenile systemic lupus erythematosus, juvenile scleroderma, juvenile dermatomyositis, and chronic recurrent multifocal osteomyelitis. Juvenile idiopathic arthritis is the most common autoimmune chronic systemic disease of connective tissue in children. The remaining systemic juvenile connective tissue diseases are rare. However, they require early diagnosis and initiation of treatment to prevent injury, not only to the musculoskeletal system but also to the internal organs, and even death. Imaging of juvenile inflammatory arthropathies has relied for years on radiography. Recent advances in disease-modifying drugs have led to a greater emphasis on the detection of early inflammation not evident on plain radiography. Ultrasound examination allows for the early recognition of the disease process in the soft tissues. Magnetic resonance imaging detects early inflammatory changes involving the soft tissues, the subcortical bone of peripheral joints, the spine, and entheses.

Traumatic avulsion of the superior extensor retinaculum of the ankle as a cause of subperiosteal haematoma of the distal fibula in children. A retrospective study of 7 cases.

OBJECTIVE: To describe a new sonographic feature for a traumatic lesion of the ankle in children. MATERIALS AND METHODS: We present a retrospective review of superior extensor retinaculum (SER) avulsions diagnosed by ultrasound (US) as a cause of subperiosteal haematoma (SPH) and periosteal apposition of the distal fibula in seven children (3 girls and 4 boys, mean age 13.4 years; age range 10-15 years) after an inversion trauma of the ankle. Two children were subsequently examined with magnetic resonance imaging (MRI). RESULTS: At the acute phases (6 children), US showed a hypoechoic collection with periosteal elevation at the fibular insertion of the SER. The fibular cortex and growth plate were unremarkable. The SPH was isolated in three cases and associated with an anterior talofibular ligament sprain in four. In two cases, MRI confirmed the SER periosteal avulsion and the integrity of the distal fibula. At the later phase (one child), US showed a periosteal apposition at the fibular insertion of the SER with hypoechoic thickening of the SER and power Doppler hyperaemia. CONCLUSION: This is the first sonographic description of SER avulsion as cause of SPH of the distal fibula in children. SPH in children should not be considered as pathognomonic of a Salter-Harris type 1 lesion of the distal fibula. Later, it may be responsible for persistent ankle pain. Therefore, SER may be systematically explored in children during US examination of the ankle after trauma.

Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.

INTRODUCTION: Tuberous sclerosis complex (TSC) involves frequently the kidneys. Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involvement in children affected by classical TSC or by the CGS and to verify whether it is possible to differentiate between both entities. The evolution of the lesions through time was also studied. MATERIALS AND METHODS: 55 cases of patients <16 years with STB were reviewed by two pediatric radiologists. Clinical data reviewed included age at diagnosis, genetic assessment and complications; US data reviewed included renal size, type of lesions (angiomyolipoma-AML, or cysts), number and location as well as their evolution with time. Complications were also analyzed. RESULTS: 30 patients (56 %) had at least one kidney lesion (27 classical TSC and 3 CGS). On the basis of the US findings, these patients were separated into four groups. Group 1 (9 patients) displayed microscopic (diffuse) AML; group 2 (3 patients) displayed macroscopic AML; group 3 (9 patients) displayed only renal cysts and group 4 (9 patients) displayed the association of AML and cysts. Increased renal size, the large number and size of cystic lesions were suggestive of the CGS. The isolated AML were suggestive of classical STB. The average growth of angiomyolipoma was low before age of 12 and exceeded 4 mm/year thereafter. CONCLUSION: In children with TSC, renal involvement is common. Some US criteria can help to suggest the diagnosis of CGS. The growth of angiomyolipoma is slow before 12 years and accelerates thereafter. Complications are rare.

Association between Kniest dysplasia and chondrosarcoma in a child.

Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the alpha 1 (II) chain in COL2A1 between exons 12 and 24. Somatic COL2A1 mutations have been identified in chondrosarcoma, a rare cartilage forming neoplasm, with a hypermutability of the gene reported in 37% of cases. However, to the best of our knowledge, there is no reported increase in predisposition to chondrosarcoma in human collagenopathies, and no reported clinical association between these congenital diseases and cartilaginous tumors. In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma. We also describe a new constitutive mutation in COL2A1.

Recommendations of the ESSR Arthritis Subcommittee for the Use of Magnetic Resonance Imaging in Musculoskeletal Rheumatic Diseases.

This article presents the recommendations of the European Society of Musculoskeletal Radiology Arthritis Subcommittee regarding the standards of the use of MRI in the diagnosis of musculoskeletal rheumatic diseases. The recommendations discuss (1) the role of MRI in current classification criteria of musculoskeletal rheumatic diseases (including early diagnosis of inflammation, disease follow-up, and identification of disease complications); (2) the impact of MRI on the diagnosis of axial and peripheral spondyloarthritis, rheumatoid arthritis, and juvenile spondyloarthritis; (3) MRI protocols for the axial and peripheral joints; (4) MRI interpretation and reporting for axial and peripheral joints; and finally, (5) methods for assessing MR images including quantitative, semiquantitative, and dynamic contrast-enhanced MRI studies.

Imaging and interpretation of axial spondylarthritis: the radiologist's perspective--consensus of the Arthritis Subcommittee of the ESSR.

This article reflects the radiologist's perspective on the imaging and interpretation of axial spondylarthritis (SpA). The arthritis subcommittee of the European Society of Skeletal Radiology provides a consensus for the following questions: When and how should we image? How should we analyze the images? How should we interpret the imaging findings? To answer these questions, we address the indications in imaging axial SpA and the different imaging techniques, with a special focus on magnetic resonance imaging protocols. The value of different imaging modalities is discussed. For adequate image analysis, knowledge of the anatomy and the pathologic changes in chronic and acute inflammation of the sacroiliac joints and the spine is mandatory. Differential diagnoses of inflammatory lesions of the sacroiliac joints and the spine are addressed due to their importance in image interpretation.

Low-dose biplanar skeletal survey versus digital skeletal survey in multiple myeloma.

OBJECTIVES: To evaluate the low-dose biplanar (LDB) skeletal survey (SS) for the assessment of focal bone involvement in patients with multiple myeloma (MM) as compared with digital SS and to compare the two techniques in terms of image quality, patient comfort and radiation exposure. METHODS: Fifty-six consecutive patients with newly diagnosed or first relapsed MM underwent LDB and digital SS on the same day. These were assessed by two radiologists for the detection of focal bone lesions. In the case of discordance, whole-body MR imaging was performed. Image quality, patient comfort and radiation dose were also assessed. RESULTS: Fifty-six patients (M:30, F:26, mean age, 62 years) with newly diagnosed (n = 21) or first relapse MM (n = 35) were enrolled. A total of 473 bone lesions in 46 patients (82 %) were detected. Out of that total, digital SS detected significantly more lesions than LDB SS (451 [95.35 %] versus 467 [98.73 %]), especially in osteopenic and obese patients. Overall patient satisfaction was greater with LDB SS (48.6 %) compared with digital SS (2.7 %). The radiation dose was significantly reduced (by a factor of 7.8) with the LDB X-ray device. CONCLUSIONS: Low-dose biplanar skeletal surveys cannot replace digital SS in all patients suffering from multiple myeloma. KEY POINTS: • Low-dose biplanar skeletal surveys can readily assess bone lesions in multiple myeloma. • In marked radiographic osteopenia and obesity, LDB SS diagnostic performance is reduced. • Low-dose biplanar skeletal surveys cannot yet replace digital SS in all MM patients.

Chronic recurrent multifocal osteomyelitis (CRMO): a longitudinal case series review.

BACKGROUND: Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disorder that is currently diagnosed based on clinical, radiologic, pathological and longitudinal findings. OBJECTIVE: To provide detailed descriptions of CRMO lesion patterns seen on radiographs and MRI and to suggest clinical use of whole-body MRI and propose noninvasive diagnostic strategy. MATERIALS AND METHODS: Retrospective longitudinal study (1989-2010) of 31 children (22 girls, 9 boys) diagnosed with CRMO. Imaging data were evaluated by two pediatric radiologists. RESULTS: Mean age at diagnosis was 11 years (3-17). A total of 108 lesions were investigated. The most common sites were the long bone metaphyses (56 lesions in 24 children) especially femoral and tibial (20/24); pelvis (10/31); spine (9/31); clavicle (6/31) and mandible (3/31). In long bones, the radiologic appearance was normal (22/56), mixed lytic and sclerotic (20/56), sclerotic (8/56) or lytic (6/56) often juxtaphyseal (36/56), with hyperostosis or periosteal thickening (10/56). Vertebral involvement was often multifocal (6/9). Medullary edema was seen on MRI (42) with epiphyseal (23/42) or soft-tissue (22/42) inflammation and juxtaphyseal nodule-like appearance (7/42). Whole-body MRI (15/31) was key in detecting subclinical lesions. CONCLUSION: CRMO is a polymorphous disorder in which whole-body MRI is extremely useful for showing subclinical edema. Vertebral collapse requires long-term monitoring.

Anatomical characterization of the too-long anterior process of the calcaneum: a computed tomography scan analysis of 69 feet.

Our work aims to identify and measure the morpho-anatomical characteristics of too-long anterior calcaneal process based on computed tomography scans done in patients with a history of pain and who have experienced repeated ankle sprains. The computed tomography scans of 69 feet were reviewed. These scans were used to calculate (1) the calcaneo-navicular distance; (2) the height, length, and width of the too-long anterior calcaneal process; (3) the length of the calcaneum; (4) the angle of the too-long anterior calcaneal process in the sagittal (anterior-superior angle), axial (anterior-medial angle), and frontal plane. Out of 69 feet, forty-nine were pathological (71%) with abnormalities of the too-long anterior calcaneal process, while the rest (29%) had no morphological abnormalities. The calcaneo-navicular distance was found to be <5 mm (mean: 2.8 ± 1.2 mm) in all pathological feet, which also had significantly reduced calcaneo-navicular distance ( P < 0.001) and longer bone portion distal to the calcaneocuboid tangent ( P < 0.001) in comparison to normal feet. In pathological feet, the mean too-long anterior calcaneal process length was 10.7 ± 1.9 mm; the mean anterior-superior angle was 29.6 ° ± 11.6, the mean angle anterior-medial angle was 40.7 ° ± 8.3, the mean angle frontal plane was 74.2 ° ± 14.1. Similar to a cone or a parallelepiped, the too-long anterior calcaneal process has a complex three-dimensional anatomy, with a superior, medial, and anterior direction. Using the measurements obtained, four different too-long anterior calcaneal process morphotypes could be identified: absence of TLACP, triangular shape, rectangular shape, and coalition (level of evidence III).

The monthly incidence of abusive head trauma, inflicted skeletal trauma, and unexplained skin lesion in children in six French university hospitals during the COVID-19 pandemic.

INTRODUCTION: The COVID-19 pandemic was a stressful period. Lockdowns may have added to parental difficulty leading to an increase in violence. This study aimed to compare the monthly incidence of high suspicion of child physical abuse before and during the COVID-19 pandemic. MATERIAL: We have retrospectively reviewed imaging examinations of children having a skeletal X-ray examination in six university hospitals with high suspicion of abusive head traumatism (AHT), inflicted skeletal trauma (IST) and unexplained skin lesions (USL) between March 2020 and June 2021 and compared with the similar period from 2018 to 2019. The monthly incidence of the different physical maltreatment was analyzed using a QuasiPoisson regression model. RESULTS: We included 178 children (n = 127 boys, 71.3 %), 110 during the pandemic period, median age 5 months. AHT was diagnosed in 91 children, 55 had inflicted skeletal trauma (IST) and 46 had unexplained skin lesions (USL). Among the 91 patients with AHT, 86 had a subdural hematoma (95.6 %) and 40 had bridging veins thrombosis (44 %). The ophthalmological examination performed on 89 children (97.9 %) revealed retinal hemorrhages in 57 children (89.8 %). The incidence of AHT doubled during the months of COVID-19 lockdowns (rate ratio = 2; 95 % CI [1.1; 3.6], p = 0.03). No difference in monthly incidence was observed for IST and USL groups. CONCLUSION: A significant increase in AHT was observed during the months with lockdowns and curfews during the COVID-19 pandemic. This highlights the need for developing a national strategy to prevent physical abuse in children in this context.

Three-dimensional measurements of the lower extremity in children and adolescents using a low-dose biplanar X-ray device.

OBJECTIVE: To evaluate three-dimensional (3D) measurements of the lower extremity using a biplanar low-dose X-ray device in children and adolescents. METHODS: Firstly, 3D measurements of eight dried bones were analysed by a biplanar low-dose X-ray device (LDX) using stereoscopic software and compared with 3D computed tomography (CT). Secondly, 47 lower limbs of children and adolescents were studied using LDX two-dimensional (2D) and 3D measurements. Both parts were evaluated for femoral and tibial lengths and mechanical angles, frontal and lateral knee angulations, and the femoral neck-shaft angle. RESULTS: The 3D specimen comparison between LDX and CT measurements showed no significant differences: femoral length (P = 0.069), tibial length (P = 0.059), femoral mechanical angle (P = 0.475), tibial mechanical angle (P = 0.067), frontal knee angulation (P = 0.198), lateral knee angulation (P = 0.646) and femoral neck-shaft angle (P = 0.068). The comparison between LDX 2D and 3D measurements showed significant differences in tibial length (P = 0.003), femoral mechanical angle (P < 0.001) and femoral neck-shaft angle (P = 0.001); other parameters were unremarkable. CONCLUSIONS: The 3D LDX system presented reliable measurements compared with 3D CT. Differences between LDX 2D and 3D measurements were noted in the femoral mechanical angle, femoral neck-shaft angle and tibial length. Moderate to good interobserver agreement for the 3D LDX measurements were found. KEY POINTS: Low radiation dose is essential when assessing potential lower extremity discrepancies. A new biplanar low-dose X-ray device can assess such discrepancies in children/adolescents. This LDX device provides equally reliable 3D measurements as prevalent practice LDX measurements carry good overall interobserver agreement.

Congenital malformations of the hand and forearm in children: what radiologists should know.

Congenital upper limb malformations represent complex pathologies because of their varied clinical presentations, imaging features, and etiologies. They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) deficiencies, (2) failure of differentiation with synostoses, carpal coalitions, syndactylies, and symphalangism, (3) duplication with ulnar dimelia and polydactylies, and (4) brachydactylies. Congenital Madelung's deformity, clinodactyly, camptodactyly, and Kirner's deformity are usually included in these malformations. Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeletal or nonskeletal abnormalities are essential to eventually diagnose an embryo fetopathy (maternal valproate treatment, constriction band syndrome), a genetic disorder (trisomy 21 or Down syndrome, Turner's syndrome, Holt-Oram syndrome), or a nongenetic syndrome (vertebral, anal, cardiac, tracheal, esophageal, renal, limb association, Poland's syndrome). Genetic counseling for a child presenting with a congenital upper limb malformation is of great value, both for the treating team and the parents, and imaging is often required. The latter is still largely supported by conventional radiography, both for diagnosis and functional prognosis, but ultrasound and magnetic resonance imaging will be great tools in the near future to better evaluate these conditions.