Table 2.

Additional phenotypic findings and improved visualization of skeletal dysplasias by 3DUS in published reports

Skeletal dysplasia	Phenotypic characteristics identified better by 3DUS than 2DUS
Platylospondylic lethal chondrodysplasia89	Enhanced visualization of femoral and tibial bowing; Better characterization of the facial soft tissues with surface rendering
Camptomelic dysplasia90,98	Micrognathia; Flat face; Hypoplastic scapulae; Bifid foot
Thanatophoric dysplasia90–92,96	Improved characterization of frontal bossing and depressed nasal bridge; Demonstration of redundant skin folds; Low-set dysmorphic ears
Achondroplasia93,96,97	Improved characterization of frontal bossing and depressed nasal bridge; Superior evaluation of the epiphyses and metaphyses of the long bones, with demonstration of a vertical metaphyseal slope; Caudal narrowing of the interpedicular distance; Clear visualization of trident hand; Better visualization of disproportion between limb segments
Chondrodysplasia puntacta, rhizomelic form96,97	Improved characterization of the Binder facies (depressed nasal bridge, mid-face hypoplasia, small nose with upturned alae); identification of laryngeal stippling; visualization of large metaphyses with stippling
Achondrogenesis96	Panoramic demonstration of short neck and severe shortening of all segments of the limbs
Jarcho-Levin syndrome95	Vertebral defects with absence of ribs and transverse process
Larsen syndrome99	Genu recurvatum, midface hypoplasia, low set ears

Phenotypic characteristics of osteogenesis imperfecta,⁹⁰ short-rib polydactyly syndrome⁹⁴ and Apert’s syndrome⁹⁶ have also been described using 3DUS, although no additional findings to those of 2DUS were observed.