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...

Case presentation: 4 year-old male, diagnosed with Cornelia de Lange syndrome (CdLS). Born preterm at 35 weeks of gestation, the baby weighted 1670 kg and remained in ICU for 25 days. At 1 year age he presented a cephalic perimeter 44cm (microcephaly), horizontal nystagmus extreme lateral gaze, slow saccades, hypertonia hyperreflexia on all four limbs dysmorphic features (hypertelorism, wide no...

Trisomy 8 mosaicism syndrome (T8MS ) is a rare chromosome disorder caused by the presence of extra in some cells body. T8MS clinically variable condition associated with number developmental abnormalities. We report dysmorphic features and congenital anomalies. A 3.5-month-old boy was referred to genetic department because his atypical facial appearance. Physical examination revealed microcepha...

Translocations between the Y chromosome and an autosome are rare. We report a phenotypic male with a translocation between the Y chromosome and chromosome 6p, leading to partial 6p monosomy and XX male syndrome. He is the second child to be reported with this karyotype. Phenotypic findings included growth retardation, severe developmental delay, a Dandy-Walker malformation, cardiac and urogenit...

The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening o...

The present report describes a case of Noonan's syndrome from a dental viewpoint. Noonan syndrome is an autosomal dominant multisystem disorder. Congenital heart deformities, short stature, thoracic deformities, short neck with webbing, hypertelorism, and malocclusions are some of the frequently observed clinical features. Atypical dental anomalies such as multiple unerupted permanent teeth, mu...

Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented...

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the sib...