Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.
We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.
Nevin
N C
NC
Thomas
P S
PS
Hutchinson
J
J
D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007866:Leg / Q000000981:diagnostic imaging; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010388:Pelvis / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome