background: skeletal anomalies rate are increasing, especially among young people. the aim of this study was to investigate skeletal anomalies among male and female students in the middle school of the bayangan region kermanshah iran.  methods: 260 students from guidance schools in bayangan region (120 girls and 140 boys) participated in this study. using posture screen and new york test the sk...

49,xxxxy is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. we reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...

I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.

The combination of the Mayer--Rokitansky--Küster (MRK) syndrome with renal anomalies is well known (incidence: 36%). The combination with skeletal anomalies is also known (incidence: 10%). However, the coincidence with ear anomalies is rare, and the coincidence with facial anomalies is extremely rare. The combination of the MRK syndrome with renal, skeletal, ear and facial anomalies is describe...

purpose: to assess the frequency and type of associated malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia, and coloboma in sistan and baluchestan province. methods: patients with a clinical diagnosis of anophthalmia, microphthalmia, or coloboma were examined to find any anomaly in craniofacial, muscle-skeletal, cardiac, neurologic and urogenital systems. a...