A term male born with congenital dwarfism
Adapted from Hurst JA, Firth HV, Smithson S. Skeletal dysplasias. Semin Fetal Neonatal Med. 2005;10: 233-241.
The patient tested positive for FGFR3 Lys650Met mutation, confirming the diagnosis of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN).
The first phenotype known to be caused by a mutation in the gene encoding fibroblast growth factor receptor (FGFR)3 was achondroplasia, the most common form of human dwarfism. The achondroplasia family of skeletal dysplasias also includes mildly severe hypochondroplasia and lethal thanatophoric dysplasia. SADDAN is a unique skeletal dysplasia that has features of both achondroplasia and thanatophoric dysplasia 1 and 2 (TD1 and TD2) and falls into the spectrum of FGFR3-related skeletal dysplasias (FGFR3 Lys650Met mutation).
Clinically, infants who have achondroplasia exhibit characteristic facies, with midface hypoplasia and frontal bossing. They have short stature caused by rhizomelic shortening of the limbs, limitation of elbow extension...