Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases

Abstract

Fetal skeletal dysplasias are a heterogeneous group of rare genetic disorders, affecting approximately 2.4-4.5 of 10,000 births. We performed a retrospective review of the perinatal autopsies conducted between the years 2002-2011 at our center. The study population consisted of fetuses diagnosed with skeletal dysplasia with subsequent termination, stillbirth and live-born who died shortly after birth. Of the 2002 autopsies performed, 112 (5.6%) were diagnosed with skeletal dysplasia. These 112 cases encompassed 17 of 40 groups of Nosology 2010. The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibroblast growth factor receptor type 3 (FGFR3) chondrodysplasias [27/112 (24%)]. The most common specific diagnoses were thanatophoric dysplasia (TD) type 1 [20 (17.9%)], and OI type 2 [20 (17.9%)]. The combined radiology, pathology, and genetic investigations and grouping the cases using Nosology 2010 resulted in a specific diagnosis in 96 of 112 cases.

Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center

“…To our knowledge, there is very limited number of reports about the associated anomalies for skeletal dysplasia, focused on perinatal autopsy cases all over the world [13][14][15][16]. This study reviews all skeletal dysplasia cases and summarizes the six years experience at a tertiary care center on the south coast of Turkey.…”

microRNA Regulation of Skeletal Development

“…While cleft lip and palate may be visibly morphologically apparent immediately at birth [13], others, such as osteogenesis imperfecta (OI) or brittle bone disease, presents a variety of symptoms from loose joints to weak bones, which cause dysmorphism and premature death later in life [14]. Some rarer diseases, such as fetal skeletal dysplasia, exhibit stunted bone growth, poor mineralization, and limb agenesis [15]. The underlying causes may be genetic, including mutations in genes such as collagen and fibroblast growth factor receptors, or may be environmental such as in the case of phosphate or Vitamin D metabolism deficiency [15].…”

“…Some rarer diseases, such as fetal skeletal dysplasia, exhibit stunted bone growth, poor mineralization, and limb agenesis [15]. The underlying causes may be genetic, including mutations in genes such as collagen and fibroblast growth factor receptors, or may be environmental such as in the case of phosphate or Vitamin D metabolism deficiency [15]. …”

Stem cell transplantation before birth – a realistic option for treatment of osteogenesis imperfecta?

“…They affect approximately 2 to 5 per 10 000 live births. In various studies based on registers or autopsy material, the OI cases constitute approximately 20 to 25% of these cases . Several specific types of OI are defined according to genetic abnormality and phenotypic expression.…”

“…In various studies based on registers or autopsy material, the OI cases constitute approximately 20 to 25% of these cases. 23,24 Several specific types of OI are defined according to genetic abnormality and phenotypic expression. Usually, only types II and III result in fractures already during fetal life and are currently potential targets for fetal therapy.…”