Prune-Belly Syndrome: An Update.

The Prune-Belly (Eagle-Barrett) syndrome (PBS) is a congenital and genetically heterogeneous disease, more prevalent in males, defined by the clinical triad (1) deficiency of abdominal muscles, (2) bilateral cryptorchidism, and (3) urinary tract abnormalities. The abdomen of an infant with PBS has a typical appearance, similar to the aspect of a prune, which gives it its name. Although the etiology of this disorder is still unknown, numerous theories, mutations, and genetic disturbances have been proposed to explain the origin of PBS. Prognosis can differ a lot from one patient to another, since this condition has a wide spectrum of clinical presentation. Despite being a rare condition, the importance of PBS should not be underestimated, in the light of the potential of the disorder to lead to chronic kidney disease and other severe complications. In that regard, this review gathers the most up-to-date knowledge about the etiopathogenesis, clinical features, diagnosis, management and prognosis of PBS.

Prevalence and clinical presentation of molar incisor hypomineralisation among a population of children in the community of Madrid.

OBJECTIVE: The main objective of this study was to estimate the prevalence of molar incisor hypomineralisation (MIH), an alteration of tooth enamel with an estimated worldwide prevalence rate of 14%, among children using primary care services in the Community of Madrid, Spain. MATERIALS AND METHODS: This was a descriptive, cross-sectional and multicentre study. After calibrating all researchers and following the diagnostic criteria of the European Academy of Paediatric Dentistry (EAPD), children aged between 8 and 16 years who were users of the dental services at 8 primary oral health units of the Madrid Health Service (SERMAS) were included. The children underwent a dental examination, and the parents were asked to complete a questionnaire. RESULTS: The prevalence of MIH was 28.63% (CI: 24.61-32.65%). The age cohorts most affected by MIH were 8 years (21.4%) and 11 years (20.7%). The presence of MIH was greater among girls (85; 60.71%) than among boys (55; 39.28%). The mean number of affected teeth per patient was 4.46 ± 2.8. The most frequently affected molar was the upper right first molar (74.3%), and the upper left central incisor was the most affected incisor (37.85%). Opacities were the defects most frequently recorded (63.57%). CONCLUSIONS: The prevalence of MIH in this study is the highest of all relevant studies conducted in Spain.

Ecological assessment of stream water polluted by phosphorus chemical plant: Physiological, biochemical, and molecular effects on zebrafish (Danio rerio) embryos.

The rapid development of the phosphorus chemical industry has caused serious pollution problems in the regional eco-environment. However, understanding of their ecotoxic effects remains limited. This study aimed to investigate the developmental toxicity of a stream polluted by a phosphorus chemical plant (PCP) on zebrafish embryos. For this, zebrafish embryos were exposed to stream water (0, 25, 50, and 100% v/v) for 96 h, and developmental toxicity, oxidative stress, apoptosis, and DNA damage were assessed. Stream water-treated embryos exhibited decreased hatching rates, heart rates, and body lengths, as well as increased mortality and malformation rates. The general morphology score system indicated that the swim bladder and pigmentation were the main abnormal morphological endpoints. Stream water promoted antioxidant enzymes (superoxide dismutase (SOD), peroxidase (POD), and glutathione peroxidase (GPx)), lipid peroxidation, and DNA damage. It also triggered apoptosis in the embryos' heads, hearts, and spines by activating apoptotic enzymes (Caspase-3 and Caspase-9). Additionally, stream water influenced growth, oxidative stress, and apoptosis-related 19 gene expression. Notably, tyr, sod (Mn), and caspase9 were the most sensitive indicators of growth, oxidative stress, and apoptosis, respectively. The current trial concluded that PCP-polluted stream water exhibited significant developmental toxicity to zebrafish embryos, which was regulated by the oxidative stress-mediated activation of endogenous apoptotic signaling pathways.

Characterization of Enlarged Tongues in Cloned Piglets.

Although the efficiency of cloning remains very low, this technique has become the most reliable way to produce transgenic pigs. However, the high rate of abnormal offspring such as an enlarged tongue lowers the cloning efficiency by reducing the early survivability of piglets. Thus, the present study was conducted to identify the characteristics of the enlarged tongue from cloned piglets by histologic and transcriptomic analysis. As a result, it was observed that the tissues from enlarged tongues (n = 3) showed isolated and broken muscle bundles with wide spaces while the tissues from normal tongues (n = 3) showed the tight connection of muscle bundles without space by histological analysis. Additionally, transmission electron microscopy results also showed the formation of isolated and broken muscle bundles in enlarged tongues. The transcriptome analysis showed a total of 197 upregulated and 139 downregulated genes with more than 2-fold changes in enlarged tongues. Moreover, there was clear evidence for the difference between groups in the muscle system process with high relation in the biological process by gene ontology analysis. The analysis of the Kyoto Encyclopedia of Gene and Genomes pathway of differentially expressed genes indicated that the pentose phosphate pathway, glycolysis/gluconeogenesis, and glucagon signaling pathway were also involved. Conclusively, our results could suggest that the abnormal glycolytic regulation may result in the formation of an enlarged tongue. These findings might have the potential to understand the underlying mechanisms, abnormal development, and disease diagnosis in cloned pigs.

Multi-scale characterization of Developmental Defects of Enamel and their clinical significance for diagnosis and treatment.

Developmental Defects of Enamel (DDE) such as Dental Fluorosis (DF) and Molar Incisor Hypomineralization (MIH) are a major public health problem. Their clinical aspects are extremely variable, challenging their early and specific diagnosis and hindering progresses in restorative treatments. Here, a combination of macro-, micro- and nano-scale structural and chemical methods, including, among others, Atom Probe Tomography recently applied on tooth enamel, were used to study and compare MIH, DF and healthy teeth from 89 patients. Globally, we show that DF is characterized by an homogenous loss of mineral content and crystallinity mainly disrupting outside layer of enamel, whereas MIH is associated with localized defects in the depth of enamel where crystalline mineral particles are embedded in an organic phase. Only minor differences in elemental composition of the mineral phase could be detected at the nanoscale such as increased F and Fe content in both severe DDE. We demonstrate that an improved digital color measurement of clinical relevance can discriminate between DF and MIH lesions, both in mild and severe forms. Such discriminating ability was discussed in the light of enamel composition and structure, especially its microstructure, organics presence and metal content (Fe, Zn). Our results offer additional insights on DDE characterization and pathogenesis, highlight the potentiality of colorimetric measurements in their clinical diagnosis and provide leads to improve the performance of minimally invasive restorative strategies. STATEMENT OF SIGNIFICANCE: Developmental Defects of Enamel (DDE) are associated to caries and tooth loose affecting billions of people worldwide. Their precise characterization for adapted minimally invasive care with optimized materials is highly expected. Here In this study, first we propose the use of color parameters measured by a spectrophotometer as a means of differential clinical diagnosis. Second, we have used state-of-the-art techniques to systematically characterize the structure, chemical composition and mechanical optical properties of dental enamel teeth affected by two major DDE, Dental Fluorosis (DF) or Molar Incisor Hypomineralization (MIH). We evidence specific enamel structural and optical features for DF and MIH while chemical modifications of the mineral nanocrystals were mostly correlated with lesion severity. Our results pave the way of the concept of personalized dentistry. In the light of our results, we propose a new means of clinical diagnosis for an adapted and improved restoration protocol for these patients.

Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy.

Lower motor neuron degeneration is the pathological hallmark of spinal muscular atrophy (SMA), a hereditary motor neuron disease caused by loss of the SMN1 gene and the resulting deficiency of ubiquitously expressed SMN protein. The molecular mechanisms underlying motor neuron degeneration, however, remain elusive. To clarify the cell-autonomous defect in developmental processes, we here performed transcriptome analyses of isolated embryonic motor neurons of SMA model mice to explore mechanisms of dysregulation of cell-type-specific gene expression. Of 12 identified genes that were differentially expressed between the SMA and control motor neurons, we focused on Aldh1a2, an essential gene for lower motor neuron development. In primary spinal motor neuron cultures, knockdown of Aldh1a2 led to the formation of axonal spheroids and neurodegeneration, reminiscent of the histopathological changes observed in human and animal cellular models. Conversely, Aldh1a2 rescued these pathological features in spinal motor neurons derived from SMA mouse embryos. Our findings suggest that developmental defects due to Aldh1a2 dysregulation enhances lower motor neuron vulnerability in SMA.

Cellular senescence and developmental defects.

Cellular senescence is a distinct state that is frequently induced in response to ageing and stress. Yet studies have also uncovered beneficial functions in development, repair and regeneration. Current opinion therefore suggests that timely and controlled induction of senescence can be beneficial, while misregulation of the senescence program, either through mis-timed activation, or chronic accumulation of senescent cells, contributes to many disease states and the ageing process. Whether atypical activation of senescence plays a role in the pathogenesis of developmental defects has been relatively underexplored. Here, we discuss three recent studies that implicate ectopic senescence in neurodevelopmental defects, with possible causative roles for senescence in these birth defects. In addition, we highlight how the examination of senescence in other birth defects is warranted, and speculate that aberrantly activated senescence may play a much broader role in developmental defects than currently appreciated.

Novel miR-108 and miR-234 target juvenile hormone esterase to regulate the response of Plutella xylostella to Cry1Ac protoxin.

Insect hormones, such as juvenile hormone (JH), precisely regulate insect life-history traits. The regulation of JH is tightly associated with the tolerance or resistance to Bacillus thuringiensis (Bt). JH esterase (JHE) is a primary JH-specific metabolic enzyme which plays a key role in regulating JH titer. Here, we characterized a JHE gene from Plutella xylostella (PxJHE), and found it was differentially expressed in the Bt Cry1Ac resistant and susceptible strains. Suppression of PxJHE expression with RNAi increased the tolerance of P. xylostella to Cry1Ac protoxin. To investigate the regulatory mechanism of PxJHE, two target site prediction algorithms were applied to predict the putative miRNAs targeting PxJHE, and the resulting putative miRNAs were subsequently verified for their function targeting PxJHE using luciferase reporter assay and RNA immunoprecipitation. MiR-108 or miR-234 agomir delivery dramatically reduced PxJHE expression in vivo, whilst only miR-108 overexpression consequently increased the tolerance of P. xylostella larvae to Cry1Ac protoxin. By contrast, reduction of miR-108 or miR-234 dramatically increased PxJHE expression, accompanied by the decreased tolerance to Cry1Ac protoxin. Furthermore, injection of miR-108 or miR-234 led to developmental defects in P. xylostella, whilst injection of antagomir did not cause any obvious abnormal phenotypes. Our results indicated that miR-108 or miR-234 can be applied as potential molecular targets to combat P. xylostella and perhaps other lepidopteran pests, providing novel insights into miRNA-based integrated pest management.

Inositol in Disease and Development: Roles of Catabolism via myo-Inositol Oxygenase in Drosophila melanogaster.

Inositol depletion has been associated with diabetes and related complications. Increased inositol catabolism, via myo-inositol oxygenase (MIOX), has been implicated in decreased renal function. This study demonstrates that the fruit fly Drosophila melanogaster catabolizes myo-inositol via MIOX. The levels of mRNA encoding MIOX and MIOX specific activity are increased when fruit flies are grown on a diet with inositol as the sole sugar. Inositol as the sole dietary sugar can support D. melanogaster survival, indicating that there is sufficient catabolism for basic energy requirements, allowing for adaptation to various environments. The elimination of MIOX activity, via a piggyBac WH-element inserted into the MIOX gene, results in developmental defects including pupal lethality and pharate flies without proboscises. In contrast, RNAi strains with reduced levels of mRNA encoding MIOX and reduced MIOX specific activity develop to become phenotypically wild-type-appearing adult flies. myo-Inositol levels in larval tissues are highest in the strain with this most extreme loss of myo-inositol catabolism. Larval tissues from the RNAi strains have inositol levels higher than wild-type larval tissues but lower levels than the piggyBac WH-element insertion strain. myo-Inositol supplementation of the diet further increases the myo-inositol levels in the larval tissues of all the strains, without any noticeable effects on development. Obesity and blood (hemolymph) glucose, two hallmarks of diabetes, were reduced in the RNAi strains and further reduced in the piggyBac WH-element insertion strain. Collectively, these data suggest that moderately increased myo-inositol levels do not cause developmental defects and directly correspond to reduced larval obesity and blood (hemolymph) glucose.

Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!

Non-immune fetal hydrops (NIFH) is an etiologically heterogeneous condition. Cardiac anomalies are one of the common causes of NIFH. Cardiac anomalies can be isolated, multifactorial malformations or have a genetic basis. PLD1 variants have been associated with developmental defects involving the right heart. We present a NIFH with a PLD1 associated right heart malformation.We describe a spontaneously aborted 14 weeks old NIFH fetus with a rudimentary right ventricle, pulmonary valve atresia and pulmonary artery stenosis found at fetopsy. After a normal microarray, whole exome sequencing revealed a homozygous missense variant c.2023 C > T (p. Arg675Trp) in the PLD1 gene. Conclusion: Detailed fetopsy and genetic evaluation in this NIFH allowed an etiological explanation, further corroborated the association of PLD1 gene variants and developmental right heart defects, and that this defect can be associated with NIHF.

Relationship between preterm, low birth weight, and development defects of enamel in the primary dentition: A meta-analysis.

Background: This study aimed to systematically analyze the relationship between preterm (PT), low birth weight (LBW), and developmental defects of enamel (DDE) in the primary dentition. Methods: Following the retrieval of the databases, case-control studies, cross-sectional studies, and cohort studies on the relationship between PT, LBW and DDE, which had been published in English or Chinese up to January 2022 were included. The data about odds ratio (OR) and 95% confidence interval (95% CI) were extracted and calculated using STATA 12.0 Software. Case-control studies were evaluated using the Newcastle-Ottawa Scale (NOS), while cross-sectional studies and cohort studies were evaluated using the JBI scale. The heterogeneity of each study was evaluated using the Q test. Results: A total of 15 studies were included, of which 8 studied the relationship between PT and DDE, and 13 explored the relationship between LBW and DDE including three about the relationship between very low birth weight (VLBW) and DDE. Seven studies explored the relationship between PT, LBW, and DDE. The results of this meta-analysis showed that both PT and LBW especially VLBW (OR = 7.19, 95% CI: 4.98-10.38) were risk factors for DDE in the primary dentition (OR = 2.33, 95% CI: 1.55-3.51) (OR = 1.67, 95% CI: 1.08-2.59). The subgroup results showed that PT and LBW were both associated with the occurrence of enamel hypoplasia (EHP) (OR = 6.89, 95% CI: 3.33-14.34; OR = 2.78, 95% CI: 2.10-3.68) rather than enamel opacity (OR = 0.94, 95% CI: 0.55-1.61; OR = 1.03, 95% CI: 0.66-1.61). There was no publication bias about the included studies (P = 0.75 > 0.05; P = 0.47 > 0.05). Conclusion: This meta-analysis demonstrated that both PT and LBW especially VLBW are associated with a higher risk of DDE in the primary dentition. PT and LBW are both related to the occurrence of EHP. However, the relationship between PT, LBW, and enamel opacity has not been verified. Systematic Review Registration: https://www.crd.york.ac.uk/prospero/display_record.php?, identifier: CRD42021262761.

Modeling Human Organ Development and Diseases With Fetal Tissue-Derived Organoids.

Recent advances in human organoid technology have greatly facilitated the study of organ development and pathology. In most cases, these organoids are derived from either pluripotent stem cells or adult stem cells for the modeling of developmental events and tissue homeostasis. However, due to the lack of human fetal tissue references and research model, it is still challenging to capture early developmental changes and underlying mechanisms in human embryonic development. The establishment of fetal tissue-derived organoids in rigorous time points is necessary. Here we provide an overview of the strategies and applications of fetal tissue-derived organoids, mainly focusing on fetal organ development research, developmental defect disease modeling, and organ-organ interaction study. Discussion of the importance of fetal tissue research also highlights the prospects and challenges in this field.

Rare disorders have many faces: in silico characterization of rare disorder spectrum.

BACKGROUND: The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that are currently not considered in genome analysis pipelines. To better understand this, we characterized the rare disorder (RD) spectrum using various bioinformatics resources (e.g., Orphanet/Orphadata, Human Phenotype Ontology, Reactome pathways) combined with custom-made R scripts. RESULTS: Our in silico characterization led to identification of 145 borderline-common, 412 rare and 2967 ultra-rare disorders. Based on these findings and point prevalence, we would expect that approximately 6.53%, 0.34%, and 0.30% of individuals in a randomly selected population have a borderline-common, rare, and ultra-rare disorder, respectively (equaling to 1 RD patient in 14 people). Importantly, our analyses revealed that (1) a higher proportion of borderline-common disorders were caused by multiple gene defects and/or other factors compared with the rare and ultra-rare disorders, (2) the phenotypic expressivity was more variable for the borderline-common disorders than for the rarer disorders, and (3) unique clinical characteristics were observed across the disorder categories forming the spectrum. CONCLUSIONS: Recognizing that RD patients who remain unsolved even after genome sequencing might belong to the more common end of the RD spectrum support the usage of computational pipelines that account for more complex genetic and phenotypic scenarios.

Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research.

BACKGROUND: Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with rare diseases is needed. The purpose of this review was to map and describe characteristics of existing research on experienced fatigue in a selection of rare diseases in rare developmental defects or anomalies during embryogenesis and rare genetic diseases. Furthermore, to identify research gaps and point to research agendas. METHODS: We applied a scoping review methodology, and performed a systematic search in March 2020 in bibliographic databases. References were sorted and evaluated for inclusion using EndNote and Rayyan. Data were extracted on the main research questions concerning characteristics of research on experienced fatigue (definition and focus on fatigue, study populations, research questions investigated and methods used). RESULTS: This review included 215 articles on ten different rare developmental defects/anomalies during embryogenesis and 35 rare genetic diseases. Of the 215 articles, 82 had investigation of experienced fatigue as primary aim or outcome. Included were 9 secondary research articles (reviews) and 206 primary research articles. A minority of articles included children. There were large differences in the number of studies in different diseases. Only 29 of 215 articles gave a description of how they defined the concept of experienced fatigue. The most common research-question reported on was prevalence and/ -or associations to fatigue. The least common was diagnostics (development or validation of fatigue assessment methods for a specific patient group). A large variety of methods were used to investigate experienced fatigue, impeding comparisons both within and across diagnoses. CONCLUSION: This scoping review on the characteristics of fatigue research in rare diseases found a large variety of research on experienced fatigue. However, the minority of studies had investigation of experienced fatigue as a primary aim. There was large variation in how experienced fatigue was defined and also in how it was measured, both within and across diagnoses. More research on experienced fatigue is needed, both in children and adults with rare diseases. This review offers a basis for further research.

Molar-incisor hypomineralisation: an updated view for aetiology 20 years later.

BACKGROUND: The term Molar-Incisor Hypomineralisation (MIH) was introduced in 2001 by Weerheijm, Jälevik and Alaluusua, and describes a defect of systemic origin that affects one to four first permanent molars, often associated with permanent incisors. In the past 20 years, this definition dictated the work regarding MIH prevalence, associated risk factors, association with dental caries, impact on quality of life, and therapeutic options. PURPOSE: In this report, we offer an updated and comprehensive view of MIH centred on the patient and the tooth. CONCLUSION: MIH today is globally recognized as a potential public health problem and it is not a defect of purely systemic origin but rather a condition with complex aetiology that in some instances may be the result of gene-environmental interactions.

Regulated inositol synthesis is critical for balanced metabolism and development in Drosophila melanogaster.

Myo-inositol is a precursor of the membrane phospholipid, phosphatidylinositol (PI). It is involved in many essential cellular processes including signal transduction, energy metabolism, endoplasmic reticulum stress, and osmoregulation. Inositol is synthesized from glucose-6-phosphate by myo-inositol-3-phosphate synthase (MIPSp). The Drosophila melanogaster Inos gene encodes MIPSp. Abnormalities in myo-inositol metabolism have been implicated in type 2 diabetes, cancer, and neurodegenerative disorders. Obesity and high blood (hemolymph) glucose are two hallmarks of diabetes, which can be induced in Drosophila melanogaster third-instar larvae by high-sucrose diets. This study shows that dietary inositol reduces the obese-like and high-hemolymph glucose phenotypes of third-instar larvae fed high-sucrose diets. Furthermore, this study demonstrates Inos mRNA regulation by dietary inositol; when more inositol is provided there is less Inos mRNA. Third-instar larvae with dysregulated high levels of Inos mRNA and MIPSp show dramatic reductions of the obese-like and high-hemolymph glucose phenotypes. These strains, however, also display developmental defects and pupal lethality. The few individuals that eclose die within two days with striking defects: structural alterations of the wings and legs, and heads lacking proboscises. This study is an exciting extension of the use of Drosophila melanogaster as a model organism for exploring the junction of development and metabolism.

Posterior midline cleft of the atlas – a crucial anatomical variation in vertebral fractures / Hendidura posterior de la línea media del atlas - una variación anatómica crucial en las fracturas vertebrales

The anatomy of the first vertebra, namely atlas, has significant clinical implications. Atlas is situated between the occipital bone and the second cervical vertebra (axis) and is one of the main points of head movement. Most congenital anomalies of the vertebra are diagnosed incidentally during imaging investigations and can be associated with cervical spine anomalies. The neurological symptoms may include weakness in the four limbs, acute neurologic deficits such as transient quadriparesis, paraparesis, Lhermitte's sign, chronic neck pain, and headache. This anomaly is also commonly seen in gonadal dysgenesis, Klippel-Feil syndrome, Arnold-Chiari malformations, and Turner and Down syndrome. Unlike other variations, which arise due to disturbances of ossification posterior midline clefts of the atlas, are different since they are a developmental failure of chondrogenesis. We therefore present an anatomical case and analysis of the literature about posterior arch clefts of atlas. (AU)

La anatomía de la primera vértebra, a saber, el atlas, tiene importantes implicaciones clínicas. Atlas está situado entre el hueso occipital y la segunda vértebra cervical (axis) y es uno de los principales puntos de movimiento de la cabeza. La mayoría de las anomalías congénitas de las vértebras se diagnostican de manera incidental durante las investigaciones por imágenes y pueden asociarse con anomalías de la columna cervical. Los síntomas neurológicos pueden incluir debilidad en las cuatro extremidades, déficits neurológicos agudos como cuadriparesia transitoria, paraparesia, signo de Lhermitte, dolor de cuello crónico y dolor de cabeza. Esta anomalía también se observa con frecuencia en la disgenesia gonadal, el síndrome de Klippel-Feil, las malformaciones de Arnold-Chiari y el síndrome de Turner y Down. A diferencia de otras variaciones, que surgen debido a alteraciones de la osificación, las hendiduras de la línea media posterior del atlas, son diferentes ya que son una falla en el desarrollo de la condrogénesis. Por tanto, presentamos un caso anatómico y un análisis de la literatura sobre las hendiduras del arco posterior del atlas. (AU)

Defects in Cell Wall Differentiation of the Arabidopsis Mutant rol1-2 Is Dependent on Cyclin-Dependent Kinase CDK8.

Plant cells are encapsulated by cell walls whose properties largely determine cell growth. We have previously identified the rol1-2 mutant, which shows defects in seedling root and shoot development. rol1-2 is affected in the Rhamnose synthase 1 (RHM1) and shows alterations in the structures of Rhamnogalacturonan I (RG I) and RG II, two rhamnose-containing pectins. The data presented here shows that root tissue of the rol1-2 mutant fails to properly differentiate the cell wall in cell corners and accumulates excessive amounts of callose, both of which likely alter the physical properties of cells. A surr (suppressor of the rol1-2 root developmental defect) mutant was identified that alleviates the cell growth defects in rol1-2. The cell wall differentiation defect is re-established in the rol1-2 surr mutant and callose accumulation is reduced compared to rol1-2. The surr mutation is an allele of the cyclin-dependent kinase 8 (CDK8), which encodes a component of the mediator complex that influences processes central to plant growth and development. Together, the identification of the surr mutant suggests that changes in cell wall composition and turnover in the rol1-2 mutant have a significant impact on cell growth and reveals a function of CDK8 in cell wall architecture and composition.

Quantitative evaluation of masking effect of resin infiltration on developmental defects of enamel.

OBJECTIVE: Qualitative developmental defects of enamel (DDEs) are characterized by an intact hypermineralized surface enamel layer and a porous subsurface hypomineralized layer. This structure is similar to natural early caries lesions, which are effectively arrested by resin infiltration, a micro-invasive clinical procedure. An additional reported effect in early enamel caries is recovery of enamel translucency. Due to structural similarities, a similar mechanism is expected in qualitative DDEs. The objective of the present study was to observe quantitative color masking of qualitative DDEs when subjected to resin infiltration. METHOD AND MATERIALS: A total of 70 selected enamel defects were subjected to resin infiltration in a nonrandomized study design. Each defect was subjected to photographic imaging using a digital camera both pre- and post-intervention. Each image was assessed using ImageJ digital software (National Institutes of Health) for CIE L*a*b coordinates. RESULTS: There were significant changes observed in L*a*b coordinates of all DDEs, when subjected to resin infiltration. CONCLUSION: The resin infiltration intervention was successful in masking the "white" opaque discolorations of developmentally affected enamel.