objective rubinstein-taybi syndrome is a rare genetic disorder with characteristic featuresincluding downward slanting palpebral fissures, broad thumbs and halluces,and mental retardation. systemic features may involve cardiac, auditory,ophthalmic, endocrine, nervous, renal and respiratory systems. this syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encodingcreb-...

fryns-aftimos syndrome is a rare autosomal dominant disorder characterized by craniofacial signs, anterior neuronal migration disorder (pachygyria, lissencephaly), skeletal deformities and mental retardation. we describe a five-year-old boy with abnormal facial features (hypertelorism, ptosis, high arched palate), skeletal problems (short stature, short fingers, flat feet) and mild intellectual...

Noonan syndrome occurs in about one per 2000 live births [1]. The males and females are affected equally. The disorder is usually sporadic, but presents also with dominant inheritance. The main features of Noonan syndrome are characteristic facial changes, such as: triangular face, hypertelorism, epicanthus, downward palpebral fissures, ptosis, micrognathia, low-set ears with thickened helices;...

A 15-year-old girl presented for evaluation of short stature and delayed sexual maturation. Her weight and height were 91 lb. (41 .3 kg) and 58 in. (147.3 em), respectively. She had not yet begun menstruating and had had no development of secondary sexual characteristics. Moderate ocular hypertelorism was present. A brain CT scan was initially interpreted as showing an intrasellar and suprasell...

A young patient, 10 years of age (Fig. 1), was referred to us by her dentist for the correction of an excessive overjet, caused by finger sucking. She presented with delayed growth and short stature and was being treated for these conditions at a hospital facility. Initially it was difficult to examine her because she was very apprehensive. The extraoral examination revealed mildly atypical fac...

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...

An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation. On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated e...

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and oc...

Mid1 protein (green) was transiently overexpressed as a green fluorescent fusion protein in Cos-1 cells. It co-localises (yellow) with the microtubule network (red) of the cell. In this case, the overexpression of Mid1 protein seems to be inducing early signs of apoptosis as the nucleus (blue) is beginning to break down. Mutations in the Mid1 gene are responsible for the X-linked form of the Op...

The purpose of this report is to present Apert syndrome patient by highlighting craniofacial characteristics and orthodontic approach to treatment.The patient, a 16-day-old female and the second child of healthy parents, was admitted to our department with primary complaint of cleft palate. She had a cone-shaped calvarium, midface hypoplasia, syndactyly of the hands and feet, hypertelorism, pro...