Two cases of bizarre skeletal anomalies associated with intestinal malformation are presented. One patient had ileal atresia and Hirschsprung's disease, and the other anorectal malformation. Abnormalities in the number and morphology of ribs and vertebrae were present. Esophageal atresia often is associated with skeletal abnormalities, including supernumerary ribs, but these usually are not sev...

INTRODUCTION The KBG syndrome is a rare autosomal dominant condition, first described by Hermann et al. in 1975. Fundamental findings are: mild development delay, short stature, craniofacial dysmorphism and skeletal anomalies. CASE PRESENTATION A 32 years old woman, Caucasian race, weight 57 Kg, affected by KBG syndrome was sent to our clinics for preoperative anaesthesia evaluation. She was ...

OBJECTIVE The aim of the study was to analyze the prevalence and distribution of ectopic eruption of the permanent maxillary first molar (EEM) in individuals scheduled for orthodontic treatment and to investigate the association of EEM with dental characteristics, maxillary skeletal features, crowding, and other dental anomalies. METHODS A total of 1,317 individuals were included and randomly...

Aim: To present a very rare case of bilaterally-complicated horseshoe kidney by nephrolithiasis in a patient with situsinversus with levocardia and skeletal anomalies. Case Report: A 41-year-old female presented by right loin pain. Abdominal ultrasound showed bilateral kidney stones with malrotation, right mild hydronephrosis and transposition of the abdominal organs. Chest X-ray showed the hea...

Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females. It is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary in different people. We report a 14-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testi...

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the impo...

THE ASSOCIATION of atrial septal defect and anomalies of the upper extremities specifically involving one or both thumbs was first reported by Holt and Oram in 1960.1 In that same year, McKusick2 referred to this association in one family and used the term "atriodigital dysplasia" as well as the "HoltOram syndrome." Since that time one family has been reported by Zetterqvist,3 one family by Kuh...