The work presents the results of anthropological and paleopathological analysis carried out on human skeletal remains an individual (T-173) found in a burial from necropolis “sector 96”, Messina, Sicily, dating back to Roman Empire (1st century BCE – 1st CE). study aimed acquire information necessary for reconstruction biological profile. In fact, T173 is adult male which particularly interesti...

E-mail [email protected] Obstructive sleep apnoea syndrome (OSAS) is a disorder of breathing during sleep characterised by prolonged partial airway obstruction and/ or intermittent complete obstruction (obstructive apnoea) that interrupts normal ventilation during sleep and disrupts normal sleep pattern, affecting about 2–3% of children [1, 2]. Although adenotonsillar hypertrophy remai...

We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and gene...

Hereditary combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X as well as natural anticoagulants protein C, protein S and protein Z. The spectrum of bleeding symptoms ranges from mild to severe with onset in the neonatal period in severe cases. The bleeding sympt...

Pituitary and gonadal function was studied in seven chromatin-negative men, ages 15-27 yr, with retarded sexual and somatic development, skeletal anomalies, and hyposmia. These hyposmic patients were compared with normal men, prepuberal boys and hypogonadal patients with hypopituitarism. The urinary follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels of hyposmic subjects were...

Osteogenesis imperfecta is an inherited disorder of the connective tissue stemming from gross abnormalities in collagen formation and structure. Affected patients fall into 4 classifications each displaying the similar properties of easily fractured bones, hypermobile joints, blue or gray sclera, skeletal deformities, and fragile skin. More severe forms of the disease may manifest platelet dysf...

We describe a novel spontaneous autosomal recessive mutation, cervelet-4 (crv4), which arose in a BALB/c strain. Mice homozygous for the mutation exhibit principally a reduced body size, a congenital neurological phenotype characterized by ataxic gait and intention tremor, with no gross anomalies observed in brain or cerebellum, and skeletal anomalies. Using linkage analysis, we mapped the crv4...

The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine h...

INTRODUCTION Achondrogenesis is a lethal osteochondrodysplasia characterized by hypoplasia of the bones and is associated with various anomalies varying in severity. Based on clinical, radiologic, and histopathologic features, two types are distinguished. CASE PRESENTATION The prenatal ultrasound examination of a 32-year-old Turkish woman who was referred to our clinic at 33 weeks and 6 days ...

Twenty-one cases of congenital tracheal stenosis seen at the Royal Alexandra Hospital for Children 1971 through 1980 were reviewed with regard to the clinical features, associated anomalies, endoscopic findings and radiological evaluation. Congenital tracheal stenosis was usually a serious problem often associated with other major anomalies of the respiratory tract, esophagus, or skeleton. Ther...