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. Author manuscript; available in PMC: 2009 Jul 22.
Published in final edited form as: Am J Med Genet A. 2008 Aug 1;146A(15):1917–1924. doi: 10.1002/ajmg.a.32269

Table I.

Skeletal Disorders Identified in the Prenatal Period

Acheiropody
Achondrogenesis 1B
Achondrogenesis 2
Achondroplasia
Acromandibular syndrome
Apert syndrome
Asphyxiating thoracic dystrophy
Atelosteogenesis types 1, 2, and 3
Barnes syndrome
Brachydactyly B
Caffey disease—perinatal type
Campomelic dysplasia
CHILD syndrome
Chondrodysplasia Punctata—rhizomelic type
Chondrodysplasia Punctata—Conradi-Hunerman
Cleidocranial dysplasia
Desbuquois dysplasia
Diastrophic dysplasia
Ectrodactyly syndrome
Ehlers-Danlos syndrome type 7B
Ellis van Creveld syndrome
Focal femoral hypoplasia with/without unusual facies
Gracile bone dysplasia
Hypochondrogenesis
Hypophosphatasia—perinatal lethal type
Kniest dysplasia
Larsen syndrome
Lethal Platyspondylic dysplasia—Torrance type
Metaphyseal Chondrodysplasia—McKusik type
Metatropic dysplasia
Mucolipidosis 2
Multiple synostosis syndrome
Nail-Patella syndrome
Neu-Laxova syndrome
OSMED dysplasia
Opsismodysplasia
Osteogenesis Imperfecta type 2 and 3
Otopalatodigital syndrome type 2
Pfeiffer syndrome
Pseudodiastrophic dysplasia
Roberts SC Phocomelia
SMD—Sedaghatian type
Schneckenbecken dysplasia
Short-rib polydactyly syndrome—types 2, 3, and 4
Spondyloepiphyseal dysplasia congenita
Spondylothoracic dysplasia
Stuve-Wiedemann syndrome
Thanatophoric dysplasia 1 and 2
Tibia–Ectrodactyly syndrome
Type 2 hemimelia
Unclassified skeletal dysplasias