RT Journal Article
SR Electronic
T1 Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 332
OP 336
DO 10.1136/jmg.19.5.332
VO 19
IS 5
A1 Young, I D
A1 Macrae, W G
A1 Hughes, H E
A1 Crawford, J S
YR 1982
UL http://jmg.bmj.com/content/19/5/332.abstract
AB This paper describes two sibs in each of whom Keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance.