Disease: Cleft palate short stature vertebral anomalies
- <em>FLNB</em> Disorders
- A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
- A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation
- A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia
- A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia: evidence for autosomal recessive inheritance
- A severe infantile micromelic chondrodysplasia which resembles Kniest disease
- Atelosteogenesis
- Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year
- Autosomal Dominant Robinow Syndrome
- Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity
- Campomelic dwarfism
- Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
- Congenital corneal anaesthesia and the MURCS association: a case report
- Congenital NAD Deficiency Disorder
- Craniofacial phenotypes associated with Robinow syndrome
- De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia
- Diastrophic dwarfism
- Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan
- Dyssegmental dwarfism. A lethal anisospondylic camptomicromelic dwarfism
- Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity
- Evidence of heterogeneity in dyssegmental dysplasia
- Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome
- Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?
- Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs
- Kniest disease
- Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia
- Kniest dysplasia: neonatal death with necropsy
- Mandibulofacial Dysostosis with Microcephaly
- Multiple pterygium syndrome type Escobar in two brothers. Follow-up data from childhood to adulthood
- Natural history of KBG syndrome in a large European cohort
- New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations
- Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
- Occipitocervical fusion in skeletal dysplasia: a new surgical technique
- One novel pathologic variation in <em>KMT2D</em> cause Kabuki syndrome with hearing loss as the main phenotype and related research on types of deafness
- Popliteal pterygium syndrome in a 74-year-old woman
- Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography
- Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature
- Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation
- Saethre-Chotzen Syndrome
- Scoliosis in Gordon's syndrome
- Thanatophoric dysplasia: report of 2 cases with neuropathological study
- Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features