Brachytelephalangic chondrodysplasia punctata
Familial Williams–Beuren syndrome ascertained by screening rather than targeted diagnosis
Abraham Lincoln's marfanoid mother
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft
Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis
Evidence for SHH as a candidate gene for encephalocele
Unusual neuroradiological features in Schinzel–Giedion syndrome
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant
Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly
A familial case of Cantu craniofaciofronto digital syndrome
A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism
One in 10 million
Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review
Diaphragmatic hernia
A new nonsense mutation is associated with dysmorphism in lethal neonatal CPTII deficiency
The association of polythelia with segmentation defects of the vertebrae