Craniosynostosis with ectopia lentis has been described five times since 1950 
with unknown inheritance and variable phenotype. The patient was diagnosed with 
right coronal synostosis at age 10 weeks requiring surgery, and bilateral 
ectopia lentis with high myopia at 10 months. No other family member was 
affected. There is no known consanguinity within the family. Genetic screening 
ruled out FBN1, TGFBR2, and the known craniosynostosis hotspots (FGFR2 exon 8 
and exon 10 and FGFR3 exon 6) as the cause. A homozygous deletion in exon 6 of 
ADAMTSL4 (c.767_786del 20) that has been shown to cause isolated ectopia lentis 
was found. The mutation results in a premature termination codon 
(p.Gln256ProfsX38). The proband's mother, father and one sibling are 
heterozygous carriers of the mutation. This is the first detailed report of a 
possible genetic determinant of craniosynostosis with ectopia lentis. Although 
this mutation causes isolated ectopia lentis, this may be evidence of 
pleiotropic effects of ADAMTSL4 and may represent an overlapping syndrome with a 
causative mutation in ADAMTSL4. These findings need to be confirmed in further 
cases with craniosynostosis and ectopia lentis.