Disease: Multiple vertebral anomalies unusual facies
- A case report on autosomal recessive Robinow syndrome
- A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus
- Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers
- Branchial arch malformations in infants of diabetic mothers: two case reports and a review
- Caudal dysplasia, femoral hypoplasia-unusual facies syndrome and absent radius: a new association in infant of diabetic mother?
- Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?
- Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation
- Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22)
- Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome
- Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity
- Evidence of heterogeneity in dyssegmental dysplasia
- Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity
- Femoral hypoplasia--unusual facies syndrome
- Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers
- Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity
- Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype
- Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
- Lethal femoral-facial syndrome: a case with unusual manifestations
- Median facial dysgenesis in cleft lip and palate
- New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
- Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies
- Syndromatic hepatic ductular hypoplasia (arteriohepatic dysplasia): a clinical and hepatic histologic study of three patients
- Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins
- Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene