• Association of kyphomelic dysplasia with severe combined immunodeficiency
• Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia
• Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia)
• Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas
• De novo heterozygous variants in KIF5B cause kyphomelic dysplasia
• Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes
• Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
• Kyphomelic dysplasia
• Kyphomelic dysplasia
• Kyphomelic dysplasia
• Kyphomelic dysplasia in two sib fetuses
• Kyphomelic dysplasia versus femoral hypoplasia--unusual facies syndrome
• Kyphomelic dysplasia, phenotypic variability and presence of a caudal appendage
• Kyphomelic dysplasia, Pierre Robin Sequence and pregnant
• Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia
• Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern
• Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature
• Kyphomelic dysplasia: the first 10 cases
• Lethal kyphomelic dysplasia
• Long-term follow up of a case of kyphomelic dysplasia
• New insights in congenital bowing of the femora
• Oto-palato-digital syndrome type II. Report of two related cases
• Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling
• Prenatal diagnosis of kyphomelic dysplasia
• Re-evaluation of kyphomelic dysplasia
• Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease
• The scapula as a window to the diagnosis of skeletal dysplasias
• Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes
• Variability in kyphomelic dysplasia