Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare presumed autosomal-recessive disorder with postnatal growth deficiency leading to profound short stature; rhizomelia with bowing of the lower extremities; platyspondyly with anterior vertebral protrusions; progressive metaphyseal irregularity and cupping with shortened tubular bones; and early-onset, progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. Spondylometaphyseal dysplasias (SMDs) are a heterogeneous group of disorders radiologically characterized by platyspondyly and metaphyseal dysplasia. Extra-skeletal abnormalities associated with SMDs are uncommon. In 2004, a unique form of SMD associated with cone-rod dystrophy (CRD) was described and defined as SMD-CRD. Loss-of-function mutations in PCYT1A have been reported as the cause of SMD-CRD.
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM
タイトル
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.