A Study of the Congenital Anomalies of the Ear with Special Reference to Microtia.

Congenital abnormalities of the ear is rare. It has been estimated that it occurs once in 2,00,000 births. Children with this malformation are usually sent to plastic surgery Dept. In bilateral cases they are often referred to E N T Dept. because of the hearing loss and the treatment becomes a combined problem. The outstanding role of radiological revaluation of the external, middle and internal ear apparatus is of paramount importance. Methods & Materials : The patients attending E.N.T., Out Patient Department was utilized as case materials. Besides clinical study, Plain X-Ray and C.T. plays an important role. C.T and plain X-Rays including lateral oblique mastoid views, Submentovertical view, Stenver’s views, Towne’s view, would be taken for assessment of external, middle and internal ear development. Whenever necessary, views for Mandible shall be recorded also. Aims and Objectivies : Objective of the present study is to classify congenital anomalies and to record the type of disabilities with the help of radiological investigations. Systemic study of incidence of such cases shall be recorded.

Phenotypic spectrum in uniparental disomy: Low incidence or lack of study.

CONTEXT: Alterations in the human chromosomal complement are expressed phenotypically ranging from (i) normal, via (ii) frequent fetal loss in otherwise normal person, to (iii) sub‑clinical to severe mental retardation and dysmorphism in live births. A subtle and microscopically undetectable chromosomal alteration is uniparental disomy (UPD), which is known to be associated with distinct birth defects as per the chromosome involved and parental origin. UPD can be evident due to imprinted genes and/or activation of recessive mutations. AIMS: The present study comprises of data mining of published UPD cases with a focus on associated phenotypes. The goal was to identify non‑random and recurrent associations between UPD and various genetic conditions, which can possibly indicate the presence of new imprinted genes. SETTINGS AND DESIGN: Data mining was carried out using the homepage “http://www.fish.uniklinikum‑jena.de/ UPD.html,” an online catalog of published cases with UPD. MATERIALS AND METHODS: The UPD cases having normal karyotype and with or without clinical findings were selected to analyze the associated phenotypes for each chromosome, maternal or paternal involved in UPD. RESULTS: Our results revealed many genetic conditions (other than the known UPD syndromes) to be associated with UPD. Even in cases of bad obstetric history as well as normal individuals chance detection of UPD has been reported. CONCLUSIONS: The role of UPD in human genetic disorders needs to be studied by involving larger cohorts of individuals with birth defects as well as normal population. The genetic conditions were scrutinized in terms of inheritance patterns; majority of these were autosomal recessive indicating the role of UPD as an underlying mechanism.