Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs. Characteristic skeletal abnormalities are seen.
MOPD II is distinct from Seckel syndrome (H00992) by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation.
See also H00993 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I).
Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
タイトル
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G
タイトル
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
