A girl with sternal malformation/vascular dysplasia association

A girl with sternal malformation/vascular dysplasia association

Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anoma...

Mandibuloacral Dysplasia in An Iranian Girl

andibuloacral dysplasia [MIM 248370(Mendelian Inheritance in Man)] is a rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acro-osteolysis, delayed closure of cranial suturs and joint contractures.1,2 Moreover they may develop metabolic derangement as insulin resistance, hypertriglyceridemia, and lipodystrophy.3, 4 It is shown that MAD is a genetically and ...

Ectodermal dysplasia with hydrocephalus: a rare association.

Association of Behçet’s Disease with Osteogenesis Imperfecta in A Ten-Year-Old Girl

Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. In this article, we present a patient suffering from OI, who had concomitant active Behçet’s Disease(BD)with repeated oro-genital ulcers, skin postular eruptions and severe recurrent bilateral uveitis. This patient, is, to our knowledge the first reported case in ...

Dentin Dysplasia Type I with Hypomature Amelogenesis Imperfecta in an 18-year-old Girl

Introduction: Dentin dysplasia is a rare autosomal dominant inheriting disturbance of dentin formation characterized by normal enamel formation, but atypical dentin with abnormal pulpal morphology. There are two major patterns: type I and type II. Amelogenesis imperfecta is an autosomal dominant. X-link inherent disease that is classified by clinical manifestation into hypoplastic, hyp...