Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup(15)(q24q26.3)[117]/46,XX[3].ish dup(15)(q24q26.3) (SNPRN+,PML+,subtel++,tel++) de novo karyotype. The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences.
Adolescent ; *Chromosome Aberrations ; *Chromosomes, Human, Pair 15 ; Female ; Growth Disorders/diagnosis/*genetics ; Humans ; In Situ Hybridization, Fluorescence ; Mental Retardation/diagnosis/*genetics ; Syndrome ; Telomere/*chemistry

OBJECTIVE: The purpose of the present study was to describe an OrBitoZygomatic (OBZ) surgical variant that implies the drilling of the orbital roof and lateral wall of the orbit without orbitotomy.METHODS: Design : cross-sectional study. Between January 2010 and December 2014, 18 patients with middle fossa lesions underwent the previously mentioned OBZ surgical variant. Gender, age, histopathological diagnosis, complications, and percentage of resection were registered. The detailed surgical technique is described.RESULTS: Of the 18 cases listed in the study, nine were males and nine females. Seventeen cases (94.5%) were diagnosed as primary tumoral lesions, one case (5.5%) presented with metastasis of a carcinoma, and an additional one had a fibrous dysplasia. Age ranged between 27 and 73 years. Early complications were developed in four cases, but all of these were completely resolved. None developed enophthalmos.CONCLUSION: The present study illustrates a novel surgical OBZ approach that allows for the performance of a simpler and faster procedure with fewer complications, and without increasing surgical time or cerebral manipulation, for reaching lesions of the middle fossa. Thorough knowledge of the anatomy and surgical technique is essential for successful completion of the procedure.
Cranial Fossa, Middle ; Craniotomy ; Cross-Sectional Studies ; Diagnosis ; Enophthalmos ; Female ; Humans ; Male ; Neoplasm Metastasis ; Neurosurgery ; Operative Time ; Orbit ; Skull Base ; Zygoma