Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis. These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, cleft palate, ear anom...

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of...

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly characterized by a funnel-shaped, excavated optic disc surrounded by chorioretinal pigmentary disturbance. The main ophthalomoscopic feature of the MGS is enlarged optic disc with a funnel shaped scleral defect; elevated peripapillary chorioretinal pigmentation; and pale fluffy tissue of glial hyperplasia overlying the optic d...

Frontofacionasal dysplasia or dysostosis (Mendelian Inheritance in Man 229400) is composed of cranial, ophthalmic, nasal, and lip and palate deformities. It is a rare and separate entity because it contains none of the extracranial defects seen in frontonasal dysplasia and related syndromes. Four patients with frontofacionasal dysplasia were treated in Hacettepe University between 2000 and 2007...

We present a metabolic disorder with main complaints of unresolving short stature following prolonged treatment for rickets. ES is a 4-year-old male who first presented to our hospital on self-referral but had been seen previously at another tertiary health facility. The complaints were a swelling on the back and poor growth since 1 year of age with associated skeletal deformities: Chest wall, ...

Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma-tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and s...

Cleft lip and palate is one of the most common birth defects occurring 1 of every 700 live births. Historically, cleft lip and palate care typically involves the use of presurgical infant orthopedics appliances (PIOA) fabricated by a pediatric dentist as an adjunct to the overall management of the defect approximate the cleft segments prior to surgical repair. However, the necessity of presurgi...

Distraction osteogenesis is widely used for the treatment of craniofacial deformities. In patients with cleft lip and palate, distraction osteogenesis can be employed to repair the alveolar cleft. In this report, we describe the management of three cases of unilateral cleft lip and palate by interdental distraction osteogenesis. Interdental distraction osteogenesis of the maxillary bone was per...

Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant wa...