- Homozygous intragenic deletion of breast carcinoma-amplified sequence 3 in Hengel-Maroofian-Schols syndrome: expanding the clinical and molecular spectrum. [Journal Article]Clin Dysmorphol. 2026 Oct 01; 35(4):166-169.CD
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- Mucopolysaccharidoses in Morocco: a 19-year retrospective study reveals a founder mutation in mucopolysaccharidosis type I and delineates the clinical spectrum. [Journal Article]Clin Dysmorphol. 2026 Oct 27. [Online ahead of print]CD
- CONCLUSIONS: This first comprehensive Moroccan MPS series establishes p.P533R as a major founder mutation in MPS I, with implications for targeted genetic testing and counseling in consanguineous North African populations. The phenotypic variability despite complete genetic homogeneity suggests modifier genes influence disease expression.
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- A prenatal-onset severe phenotype of SLC35A2-related congenital disorder of glycosylation associated with a mosaic hemizygous intronic variant. [Journal Article]Clin Dysmorphol. 2026 Oct 06. [Online ahead of print]CD
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- Application of deep learning and explainable AI-supported medical decision-making for facial phenotyping in genetic syndromes. [Journal Article]Clin Dysmorphol. 2026 Oct 08. [Online ahead of print]CD
- CONCLUSIONS: The lack of accuracy or confidence improvements indicates that participants did not integrate saliency-based XAI into decisions. AI prediction probability had a greater impact on participants' decision-making. These data may help inform larger studies.
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- Marbach-Rustad progeroid syndrome caused by a hotspot LEMD2 variant: expanding the phenotypic spectrum with skeletal, cutaneous, and renal findings. [Journal Article]Clin Dysmorphol. 2026 Sep 23. [Online ahead of print]CD
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- Expanding the phenotype of GDI1-related neurodevelopmental disorder: report of the fifth family. [Journal Article]Clin Dysmorphol. 2026 Sep 29. [Online ahead of print]CD
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- Second-trimester prenatal phenotype of complete trisomy 10 with combined encephalocele and myelomeningocele. [Journal Article]Clin Dysmorphol. 2026 Sep 29. [Online ahead of print]CD
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- A novel homozygous frameshift variant in DYM causing Dyggve-Melchior-Clausen syndrome: expansion of the mutational spectrum. [Journal Article]Clin Dysmorphol. 2026 Aug 27. [Online ahead of print]CD
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- Nonimmune hydrops fetalis with skeletal dysplasia due to a novel homozygous recessive TAPT1 splice-donor variant. [Journal Article]Clin Dysmorphol. 2026 Sep 14. [Online ahead of print]CD
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- Omphalocele-exstrophy-imperforate anus-spinal defects complex associated with a very rare limb anomaly mimicking polymelia. [Journal Article]Clin Dysmorphol. 2026 Aug 17. [Online ahead of print]CD
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- Monochorionic dizygotic twins with discordant genetic findings and congenital malformations. [Case Reports]Clin Dysmorphol. 2026 Oct 01; 35(4):153-158.CD
- CONCLUSIONS: Monochorionicity does not exclude dizygosity after assisted reproduction. Separate sampling of both sacs may inform discordant cases, and prenatal-postnatal discrepancies in 45,X/46,XY mosaicism warrant cautious longitudinal interpretation.
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- Developmental delay, white matter changes, and multiple endocrine hormone deficiencies in MADD -related disorders: a new case and phenotypic expansion. [Journal Article]Clin Dysmorphol. 2026 Oct 01; 35(4):170-176.CD
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- Generalized overgrowth in CDC42BPB -related Chilton-Okur-Chung neurodevelopmental syndrome: expanding the phenotypic spectrum. [Journal Article]Clin Dysmorphol. 2026 Oct 01; 35(4):159-162.CD
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- A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia. [Journal Article]Clin Dysmorphol. 2026 Jul 01; 35(3):125-128.CD
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- Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features. [Journal Article]Clin Dysmorphol. 2026 Jul 01; 35(3):107-111.CD
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