craniofacial  anomalies  include  clefts,  synostoses,  atrophic  abnormalities,neoplasias etc. among which cleft lip and/or palate caused by abnormal facial development during gestation is one of the most prevalent congenital defects. its overall occurrence is about 1:700 ranging from 0.02 to 4.04 in 1000 live births. there are different etiologic factors considering the cleft cause. in most c...

Tooth agenesis is the failure of tooth bud development, causing definitive absence of the tooth. It is the most common dental anomaly, affecting up to one-quarter of the general population. The main cause is related to abnormal function of specific genes which play key roles during odontogenesis, particularly MSX1 and PAX9. MSX1 is a transcription factor highly expressed in the mesenchyme of...

OBJECTIVE To analyze the presence of Joint Committee on Infant Hearing (JCIH) risk factors and co-occurring birth defects (CBDs) in children with unilateral hearing loss (UHL). DESIGN Retrospective review. SETTING Statewide registry of universal newborn hearing screen data for all children born in Virginia from 2002 through 2008. PATIENTS The study population comprised 371 children with c...

The interpretation of the significance of marker chromosomes, which can be encountered at prenatal diagnosis, is extremely problematic. Various factors contribute to the difficulty of clarifying the phenotypic risks of supernumerary marker chromosomes, including differences in the size, structure, and origin of marker chromosomes, as well as the occurrence of multiple marker chromosomes of diff...

Recent advances in genetics and neuroimaging have greatly contributed to our understanding of the spectrum of midline brain and craniofacial malformations known as holoprosencephaly. Neuroradiologic studies have provided detailed characteristics of four major types of holoprosencephaly: alobar, semilobar, lobar, and middle interhemispheric variant. Clinical studies in children with these types ...

We present a syndrome manifested in two half brothers and their two maternal aunts which is characterised in the two boys by severe mental retardation and craniofacial dysmorphism (broad, coarse features and marked plagiocephaly with flattened occiput), and in the aunts merely by moderate mental retardation without dysmorphic features. The brothers do not seem to fall into any previously descri...

Telvi et al' recently reported on a 27 month old girl with an unbalanced de novo translocation, t(X;21)(q28;ql 1), and diagnosed this child as having an incomplete form of Williams-Beuren syndrome (WBS). This was based on some symptoms specific to WBS, such as craniofacial dysmorphism, delayed psychomotor development, short stature, horseshoe kidneys, and a positive WBS score of + 4.09.2 We do ...

Two cases of 14q proximal partial trisomy in sisters from the same family are reported. Clinical features included craniofacial dysmorphism, skin depigmentation, slight anomalies of the limbs, muscular hypertonia, and physical and mental retardation. The third sister had an abnormal phenotype, different from that of her sibs, and proved to be a carrier of a balanced translocation (2;14)(q36;q21...

craniofacial fi brous dysplasia (fd) is one of three types of fd which can affect the craniofacial complex. it is the proliferation of cellular fi brous connective tissue intermixed with irregular bony trabecules. it is a developmental tumor-like condition that is characterized by replacement of normal bone. the purpose of this report is to present a rare case of craniofacial polyostotic fd tha...