Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.
Stippled epiphyses occur in several monogenic, teratogenic, or aneuploidy syndromes. We describe two sibs with a provisionally unique chondrodysplasia punctata syndrome, who have, in addition to stippled epiphyses, minor facial anomalies, short stature, and ocular colobomata. Inheritance of this condition is likely autosomal recessive.
Toriello
H V
HV
Butterworth Hospital, Grand Rapids, Michigan.
Higgins
J V
JV
Miller
T
T
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D003103:Coloboma / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male