Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
We present two siblings with retinitis pigmentosa, mental retardation, markedly short stature, and brachydactyly. This association of clinical findings appears to be distinct from previously described syndromes and seems to represent the pleiotropic effects of a single autosomal recessive gene.
Service of Genetics, Fundación Jimenez-Diaz, Madrid, Spain.
I
I
Lorda-Sanchez
M J
MJ
Trujillo
A
A
Gimenez
B
B
Garcia-Sandoval
A
A
Franco
R
R
Sanz
M
M
Rodriguez de Alba
C
C
Ramos
C
C
Ayuso
D000328:Adult; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006130:Growth Disorders / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000235:genetics*