New anomalies found in the 11q-syndrome

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23-q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 11q-, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.