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. 1999 May;154(5):1465–1477. doi: 10.1016/S0002-9440(10)65401-6

Table 1.

Mutational and Clinical Data of the Craniosynostotic Patients Included in the Study

Craniosynostotic conditions Clinical features FGFR mutations and locations
Apert syndrome Acrocephaly, proptosis, mid-facial hypoplasia, severe bilateral bony and cutaneous syndactily of both hands and feet P253R
FGFR2, linker between the II and III Ig-like domains
Pfeiffer type II syndrome Cloverleaf skull, mid-facial hypoplasia, severe ocular proptosis, digit anomalies C342R
FGFR2, III Ig-like domain
Nonsyndromic craniosynostosis Coronal stenosis, plagiocephaly, hypertelorism and invaginated occipital bone No canonic FGFR mutations (NCM)