Cardiofaciocutaneous (CFC) syndrome is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by growth failure, distinctive facial appearance, ectodermal abnormalities, and congenital heart defects1. Around 100 cases have been reported in literature to date. We describe here a child with features of cardiofaciocutaneous syndrome. Parental consanguinity and occi...

Anterior encephalocele (AE) is a rare congenital malformation in the central nervous system with a reportedly high prevalence in Assam, Northeast India. As there exists substantial variations in the etiology of the disease, determination of risk factors and timely intervention could reduce associated morbidity. A retrospective chart review of patients with AE who were born at or referred to Ass...

To evaluate the time trends in the prevalence of neural tube defects and all their subtypes as well as to identify the epidemiological characteristics of these malformations documented in the Liaoning Province of northeast China from 2006 to 2015. This was a population-based observational study using data from 3,248,954 live births as well as from 6217 cases of neural tube defects, 1,600 cases ...

abstract objective neural tube defects including anencephaly, encephalocele, and spina bifida are major congenital malformations with multifactorial etiology, and with a great variation in their prevalence in different populations. the study on the prevalence of these malformations may be helpful in planning strategies for their prevention. the aim of this epidemiologic descriptive study was to...

AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; abs...

Introduction Choanal atresia (CA) is a challenging surgical problem defined as a failure in the development of communication between the nasal cavity and nasopharynx. Objective The objective of this study is to describe computed tomography (CT) findings in cases with bilateral choanal atresia. Methods The study involved performing axial and coronal non-contrast CT scanning with 2-3 mm sections ...