A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies?
A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal 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 the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.
Perçin
E F
EF
Department of Medical Biology and Genetics, Medical Faculty of Cumhuriyet University, Sivas, Turkey.
Düzcan
F
F
Kafali
G
G
Sezgin
I
I
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006344:Heart Septal Defects, Atrial / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities