2 CRANIOSYNOSTOTIC PATIENTS WITH 11Q DELETIONS, AND REVIEW OF 48 CASES

Many chromosomal abnormalities have craniofacial manifestations, One s uch abnormality, partial monosomy of chromosome 11q, is associated wit h metopic synostosis and resultant trigonocephaly. We reviewed 48 publ ished cases of 11q deletions and translocations. Eighty percent were a ssociated with abnormal head shape. Also commonly found were hypertelo rism, ptosis of the eyelids, wide or low nasal bridge, apparently low- set malformed ears, down-turned mouth, micro/retrognathia, digital and cardiac anomalies, and psychomotor retardation. We report on two pati ents referred for abnormal head shape. The first case had brachycephal y, flat occiput, hypertelorism, and maxillary hypoplasia, Karyotype wa s 46,XY,del(11)(q24.1-->qter). The second patient had trigonocephaly, hypotelorism, posteriorly angulated ears, horizontal crease below his lower lip, syndactyly, shawl scrotum, cryptorchidism, and inguinal her nias, Karyotype showed partial trisomy of chromosome 4q as well as par tial monosomy of 11q [46,XY,11,+ der(11)t(4;11) (q31.3;q25)], a combin ation not previously reported, Deletions of 11q appear to produce a wi de spectrum of abnormalities. (C) 1995 Wiley-Liss, Inc.