there is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. the result of karyotype showed 47xx, with extra marker chromosome 22. although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestati...

PURPOSE The aim of this work was to present a clinical picture of congenital defects in the anterior and posterior segment of the eye and coexisting systemic developmental anomalies in a group of children during the infantile period. MATERIAL AND METHODS We performed a retrospective analysis in a group of 1507 infants seen at our outpatient ophthalmology clinic in 2006-2010. Attention was foc...

A 12 year old girl with the Poland syndrome and the 'morning glory' syndrome is described. The patient presented with absence of the left pectoralis major muscle, hypoplasia of the left arm, symbrachydactyly, and ipsilateral coloboma of the optic disc. This is the first report of the association of these two congenital anomalies.

A child is described with a de novo interstitial deletion of band 2p22 and a reciprocal translocation (3;7)(p21;q22). The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease. The clinical and cytogenetic findings are described.

SIR—Treacher Collins or Francescetti syndrome or Mandibulofacial Dysostosis is a congenital malformation of craniofacial development. He is characterized by hypoplasia of malar bones, palpebral fissure sloping downward and laterally with coloboma of the lower eyelids, micrognathia, malformation of external, middle and inner ear and cleft palate. In these patients conventional direct laryngoscop...

Choroidal coloboma and posterior staphyloma are two clinically distinct entities, with choroidal excavation being a unifying feature. They are associated with early onset cataract which can make ophthalmoscopy difficult. This report studies the transition between the normal and ectatic area in these cases with ultrasound. We evaluate "posterior hump" as a sign of differentiation between these t...