To cite: Holla A, Gonsalves SRJ, Lobo GJ. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-202425 DESCRIPTION A 15-year-old girl was referred to our ophthalmology unit for poor vision in the left eye. She was a diagnosed case of Treacher Collin syndrome (figure 1) and was surgically treated for microtia of the left ear (figure 2). On referral she reported of ...

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...

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...

OBJECTIVES The molecular underpinnings of Treacher Collins Syndrome (TCS) are diverse. This article codifies the most recent findings in this complex area of research to further current understanding of the disease process. Elucidating the genetic causes of the disorder can be useful in earlier detection and better treatment planning. DESIGN Articles from 1991 to 2013 were selected and review...

Penile agenesis or aphallia is a rare congenital anomaly occurring with a frequency of 1:10 -1:30 million newborns. Fewer than 100 cases have been reported worldwide. Associated urogenital malformations and the presence of oligohydramnios with pulmonary hypoplasia determine the infant's viability. Extra-urogenital anomalies have been described in the cardiovascular, gastro-intestinal and muscul...

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate. Current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background of TCS are described. The TCS locus has been mapped to chro...