Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias

Rassmann, Sebastian; Keller, Alexandra; Skaf, Kyra; Hustinx, Alexander; Gausche, Ruth; Ibarra-Arrelano, Miguel A.; Hsieh, Tzung-Chien; Madajieu, Yolande E. D.; Nöthen, Markus M.; Pfäffle, Roland; Attenberger, Ulrike I.; Born, Mark; Mohnike, Klaus; Krawitz, Peter M.; Javanmardi, Behnam

doi:10.1007/s00247-023-05789-1

Cited by 5 publications

(1 citation statement)

References 34 publications

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“…The dynamics of technological progress does not only influence the therapeutic management, but also the individual prediction of specific symptoms by AI-based tools. An example is the recently developed Deeplasia tool, a deep learning software for bone age assessment which can be used to predict the bone development in skeletal dysplasia ( Rassmann et al, 2024 ).…”

Section: Current and Future Management Of Overgrowthmentioning

confidence: 99%

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

Prawitt,

Eggermann

2024

Front. Genet.

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Overgrowth disorders comprise a group of entities with a variable phenotypic spectrum ranging from tall stature to isolated or lateralized overgrowth of body parts and or organs. Depending on the underlying physiological pathway affected by pathogenic genetic alterations, overgrowth syndromes are associated with a broad spectrum of neoplasia predisposition, (cardio) vascular and neurodevelopmental anomalies, and dysmorphisms. Pathologic overgrowth may be of prenatal or postnatal onset. It either results from an increased number of cells (intrinsic cellular hyperplasia), hypertrophy of the normal number of cells, an increase in interstitial spaces, or from a combination of all of these. The underlying molecular causes comprise a growing number of genetic alterations affecting skeletal growth and Growth-relevant signaling cascades as major effectors, and they can affect the whole body or parts of it (mosaicism). Furthermore, epigenetic modifications play a critical role in the manifestation of some overgrowth diseases. The diagnosis of overgrowth syndromes as the prerequisite of a personalized clinical management can be challenging, due to their clinical and molecular heterogeneity. Physicians should consider molecular genetic testing as a first diagnostic step in overgrowth syndromes. In particular, the urgent need for a precise diagnosis in tumor predisposition syndromes has to be taken into account as the basis for an early monitoring and therapy. With the (future) implementation of next-generation sequencing approaches and further omic technologies, clinical diagnoses can not only be verified, but they also confirm the clinical and molecular spectrum of overgrowth disorders, including unexpected findings and identification of atypical cases. However, the limitations of the applied assays have to be considered, for each of the disorders of interest, the spectrum of possible types of genomic variants has to be considered as they might require different methodological strategies. Additionally, the integration of artificial intelligence (AI) in diagnostic workflows significantly contribute to the phenotype-driven selection and interpretation of molecular and physiological data.

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Section: Current and Future Management Of Overgrowthmentioning

confidence: 99%

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

Prawitt,

Eggermann

2024

Front. Genet.

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Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding

Abdelrazek,

Knaus,

Javanmardi

et al. 2024

Molec Gen & Gen Med

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BackgroundAcromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature. Here, we report a 2‐year‐old boy, offspring of consanguineous parents, with acromesomelic dysplasia and postaxial polydactyly in which exome sequencing identified a novel homozygous missense variant in BMPR1B. The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula.MethodsWhole trio exome sequencing was conducted to identify potential genetic variants in the patient.ResultsThe analysis identified the biallelic variant NM_001203.3:c.821A > G;p.(Gln274Arg) in BMPR1B, a gene encoding bone morphogenetic protein receptor 1B.ConclusionThe skeletal phenotype can be brought in line with the phenotypes of previously reported cases of BMPR1B‐associated chondrodysplasias. However, the postaxial polydactyly described here is a novel clinical finding in a BMPR1B‐related case; notably, it has previously been reported in other acromesomelic dysplasia cases caused by homozygous pathogenic variants in GDF5—a gene which encodes for growth differentiation factor 5, a high‐affinity ligand to BMPR1B.

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Doctor simulator: Delta-Age-Sex-AdaIn enhancing bone age assessment through AdaIn style transfer

Wang,

Zhang,

Chen

et al. 2024

Pediatr Radiol

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Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias

Cited by 5 publications

References 34 publications

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding

Doctor simulator: Delta-Age-Sex-AdaIn enhancing bone age assessment through AdaIn style transfer

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