Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syndrome.
Mégarbané
A
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Haddad-Zebouni
S
S
Nabbout
R
R
Khoury
A H
AH
Traboulsi
E I
EI
D001827:Body Height / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D005145:Face / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D013577:Syndrome