Abstract The short-rib polydactyly syndromes (SRPS) are a group of autosomal recessively inherited skeletal disorders termed skeletal ciliopathies . Ultrasound abnormalities include small, long, narrow chests; shortened appendicular long bones;…
Abstract Russell-Silver syndrome (RSS), or Silver-Russell syndrome, is one of the growth deficiency disorders that is now part of an increasing group of congenital imprinting disorders. RSS is characterized by…
Abstract Osteogenesis imperfecta (OI) is a disorder of bone characterized by hypomineralization of the skeleton and by life-long bone fragility and fracture predisposition. OI is marked by considerable clinical and…
Abstract Radial ray defects comprise a large group of upper limb anomalies, ranging from partial (radial hypoplasia) to a complete (radial aplasia) deficiency of the radius with or without accompanying…
Abstract Anomalies of the corpus callosum (ACC) and septum pellucidum are disorders of prosencephalic midline development, which are often associated with other brain abnormalities or may be part of a…
Abstract Hypophosphatasia (HPP) results from mutations in the gene that encodes tissue nonspecific alkaline phosphatase ( TNSALP ). It can be inherited as both an autosomal recessive (AR) and autosomal…
Abstract Fibroblast growth factor receptor 3 (FGFR3) disorders are a group of disorders that include thanatophoric dysplasia, achondroplasia, and hypochondroplasia. Achondroplasia is the most frequent cause of nonlethal dwarfism and…
Abstract Diastrophic dysplasia (DTD) is an autosomal, recessively inherited skeletal dysplasia characterized by short limbs, normal-sized skull, cleft palate in one third of patients, characteristic swelling of the pinnae cartilage,…
Abstract Chondrodysplasia punctata refers to a group of skeletal dysplasias characterized primarily by punctate calcifications in cartilage (calcific stippling). These disorders are associated with short limb dwarfism, spinal abnormalities, facial…
Abstract Campomelic dysplasia (CD) is skeletal dysplasia associated with abnormal facies and multiple congenital anomalies, with characteristic skeletal anomalies. Newborns with CD often die due to respiratory insufficiency and congenital…
