Ef. Percin et al., A NEW SYNDROME WITH CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES, Clinical genetics, 48(5), 1995, pp. 264-267
A family with cardiac malformation, cleft lip-palate, short stature, m
icrocephaly, distally placed thumbs, short 2nd and 5th fingers, long a
nd broad 1st toes, broad distance between 1st and 2nd toes and mediodo
rsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes
has been described as having a new syndrome. While some members of th
e family had full signs of the syndrome, others had similar but fewer
and less severe anomalies of the same structures. The presence of comm
on findings in three generations, its variable expressivity and pleiot
ropism, and the non-consanguineous history in the parents suggest that
the inheritance is autosomal dominant.