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A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
Liu M, Li H, Ren S, Ding C. Liu M, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2335. doi: 10.1002/mgg3.2335. Mol Genet Genomic Med. 2024. PMID: 38284453 Free PMC article. Review.
Other specific craniofacial features (such as triangular nares), abnormal skeletal presentations (such as bifid femur, dysplastic epiphyses at the knee, dysplastic acetabula, delayed ossification, short stature, vertebral clefting, scoliosis, and dislocated patellae …
Other specific craniofacial features (such as triangular nares), abnormal skeletal presentations (such as bifid femur, dysplas …
Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.
Sabry MA, Obenbergerova D, Al-Sawan R, Saleh QA, Farah S, Al-Awadi SA, Farag TI. Sabry MA, et al. J Med Genet. 1996 Feb;33(2):165-7. doi: 10.1136/jmg.33.2.165. J Med Genet. 1996. PMID: 8929957 Free PMC article. Review.
The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. ...
The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid …