RT Journal Article
SR Electronic
T1 The orocraniodigital syndrome of Juberg and Hayward.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 262
OP 265
DO 10.1136/jmg.29.4.262
VO 29
IS 4
A1 A Verloes
A1 M Le Merrer
A1 J C Davin
A1 P Wittamer
A1 C Abrassart
A1 G Bricteux
A1 M L Briard
YR 1992
UL http://jmg.bmj.com/content/29/4/262.abstract
AB We report three new isolated cases of orocraniodigital syndrome (Juberg-Hayward syndrome). The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip/palate, hypertelorism, bowed and upward slanting eyebrows, thumb hypo/aplasia or proximal/distal thumb displacement, luxation of the radial head, elbow restriction, minor vertebral and rib anomalies, and horseshoe kidneys. New features observed in our patients are severe mental impairment (not correlated with the severity of the malformations), anterior anal displacement, and ptosis. Recessive inheritance is likely, but autosomal dominant inheritance cannot yet be totally ruled out; therefore, genetic counselling of parents of an affected child and of affected patients themselves must be cautious.