Hypophosphatasia
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…
FGFR3 Disorders: Thanatophoric Dysplasia, Achondroplasia, and Hypochondroplasia
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…
DTDST Dysplasia (Including AOII and Achondrogenesis IB)
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,…
Chondrodysplasia Punctata
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…
Campomelic Dysplasia
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…
Atelosteogenesis Disorders
Abstract Atelosteogenesis (AO) types I, II, and II are a group of usually lethal short-limb skeletal dysplasias. They are characterized by an abnormal, characteristic faces and hypoplastic or very shortened…
Nuchal Translucency
Abstract All women should be offered prenatal screening or diagnostic testing for aneuploidy, regardless of maternal age, but with the increasing number of prenatal screening options now available, deciding which…
Pregnancy of Unknown Location, Early Pregnancy Loss, Ectopic Pregnancy, and Cesarean Scar Pregnancy
Abstract Pregnancy is an inefficient process. A large proportion of early pregnancies end in miscarriage or early pregnancy failure. Ectopic pregnancies, those located outside of the proper uterine location, cause…
Introduction
Keywords osteochondrodysplasias, skeletal dysplasias The skeletal dysplasias or osteochondrodysplasias are a heritable group of more than 450 disorders that affect primarily bone and cartilage, but can also have significant…
Holoprosencephaly
Abstract Holoprosencephaly (HPE) is a heterogeneous central nervous system (CNS) anomaly that results from a primary defect in induction and patterning of the rostral neural tube (basal forebrain), leading to…
