Nonsyndromic cleft lip & palate is a congenital deformity of multifactorial origin. Various etiologic candidate genes have been reported with conflicting results, according to the race and population studied. Numerous efforts made understand etiology cleft/palate so as predict its occurrence thus enable prevention. The FGF regulation pathway also plays major role in craniofacial development. FG...

Keratocystic odontogenic tumour (KCOT) is a benign cystic intraosseous tumour of odontogenic origin that is usually solitary except when syndromic. It rarely occurs in the maxilla; therefore a rapidly progressive, nonsyndromic bimaxillary KCOT with locoregional extension poses significant diagnostic and management challenges. To the best of the authors' knowledge, documentation of a nonsyndromi...

We report a case of a newborn with cholestasis that was diagnosed as nonsyndromic Alagille syndrome. The main feature of the disease is a paucity of biliary ducts. There are two known types of the disease: the syndromic type which is associated with other congenital defects and the nonsyndromic type without other anomalies detected at birth. We describe the case and discuss its clinical and rad...

Congenital absence of maxillary permanent canines is an extremely rare condition, which may appear as part of a syndrome or as a nonsyndromic form. Nonsyndromic canine agenesis combined with other types of tooth agenesis has occasionally been described in the literature but isolated cases are rarely observed. This report presents an isolated case of maxillary permanent canine agenesis in a heal...

To determine the diagnostic value of massive parallel sequencing of a panel of known cardiac genes in familial nonsyndromic congenital heart defects (CHD), targeted sequencing of the coding regions of 57 genes previously implicated in CHD was performed in 36 patients from 13 nonsyndromic CHD families with probable autosomal dominant inheritance. Following variant analysis and Sanger validation,...

Summary Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic and keratitis, ichthyosis deafness (KID) syndrome predispose to fungal infection. The diagnosis treatment infections underlying challenging. In this review, we summarize reported cases with infection over the past 50 years. Atypical manifestations such alopecia, papules brittl...

Supernumerary teeth are defined as the existence of a higher number of teeth in relation to normal dental formula. The development of supernumerary teeth can happen at different times of the life and can be detected either, clinically or radiographically. The relation between supernumerary teeth and nonsyndromic cases have been reported once in a while in the literature. In this report are pres...

In the present study, we examined the profile of psychiatric symptoms in boys with fragile X syndrome (FXS) using a parent report instrument. In addition, by comparing boys with FXS to boys with nonsyndromic autism spectrum disorder (ASD) utilizing multiple matching strategies, we examined between-group differences in the types of psychiatric symptoms observed and in the strength of their concu...

BSND encodes barttin, an accessory subunit of renal and inner ear chloride channels. To date, all mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness. We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3. The functional consequence...

Nonsyndromic craniosynostosis is more commonly encountered than syndromic cases in pediatric craniofacial surgery. Affected children display characteristic phenotypes according to the suture or sutures involved. Restricted normal growth of the skull can lead to increased intracranial pressure and changes in brain morphology, which in turn may contribute to neurocognitive deficiency. Management ...