Publication Sex Age CS Age EL Race/ethnicity CS phenotype EL phenotype Gene affected Nucleotide variant (s) Protein variant (s) Gnomad MAF Patients described in this paper Patient 1 M 1 mo 4 mo Caucasian Bilateral coronal Bilateral EL ADAMTSL4 c.767_786del, c.2177 + 3_2177 + 6delGAGT p.Gln256Profs 38, (intronic - splice acceptor deletion) 0.001219, 0.000009137 Patient 2+ M 5 mo Birth Swedish Sagittal Bilateral EL/P ADAMTSL4 c.767_786del, c.767_786del p.Gln256Profs 38, p.Gln256Profs 38 0.001219 Previously published ADAMTSL4-associated CS/EL patients [28 ] M ND ND Norwegian Sagittal++ EL/P ADAMTSL4 c.767_786del, c.767_786del p.Gln256Profs 38, p.Gln256Profs 38 0.001219 [27 ] F 10 wk 10 mo ND Right coronal Bilateral EL ADAMTSL4 c.767_786del, c.767_786del p.Gln256Profs 38, p.Gln256Profs 38 0.001219 [29 , 32 ] F <2 yr 3 yr Dutch Metopic Bilateral EL ADAMTSL4 c.767_786del, c.2254C > T p.Gln256Profs 38, p.Gln752 0.001219, 0.000004059 [29 , 32 ] F 7 mo 3 yr Dutch Sagittal Bilateral EL ADAMTSL4 c.767_786del, c.2254C > T p.Gln256Profs 38, p.Gln752 0.001219, 0.000004059 Previously published, genotypically unsolved (non-Marfanoid) patients with CS/EL [36 ] M <6 yr 23 yr ND Coronal Bilateral EL Unknown [35 ] F Birth 4 mo ND Left coronal Bilateral EL Unknown [33 ] ND <6 yr <6 yr Turkish Parietal/tempoparietal Bilateral EL Unknown [34 ] M <6 yr <6 yr French Sagittal (scaphocephaly) Bilateral EL Unknown Previously published patients with CS/EL as features of early-onset Marfan syndrome [26 ] F <7 yr <7 yr ND Scaphocephaly with craniosynostosis EL FBN1 c.3668G > A p.C1223Y Not listed [25 ] M 8 mo 6 yr ND Sagittal Bilateral EL FBN1 c.3302G > A p.Y1101C Not listed