Introduction: Donnai–Barrow syndrome is a rare autosomal recessive disorder first described in 1993 and characterized by diaphragmatic hernia, hypertelorism, agenesis of the corpus callosum and deafness. Case Report: A 23­year­old female with clinical features similar to Turner patients were sent to our department by cardiology department. The main features were umblical hernia, hypertelorism (...

A 13-month-old girl presented with right upper lobe pneumonia and hypocalcaemic seizures: investigations showed hypoparathyroidism and impaired cell-mediated immune responses. Other features of the DiGeorge syndrome included hypertelorism, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery. Successful restoration of the immunodeficiency was ach...

A 12-year-old boy with the Pfeiffer syndrome presented with nonpalpable testes. Medical history was significant for multiple operations to correct bicoronal craniosynostosis, hypertelorism and syndactyly of the hands. Physical examination revealed no palpable gonads in the scrotum or inguinal canals. However, virilization and development of secondary sex characteristics had begun. Plasma testos...

A case of Noonan's syndrome with primary pulmonary hypertension is reported. The patient has multiple anomalies (small mandible, high arched palate, low set ears, hypertelorism, and webbed neck). He has normal karyotype. Cardiac examinations show pulmonary hypertension, right ventricular hypertrophy, high RPEP /RVET and no other shunt diseases. We consider that this is the first reported case o...

The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities. Although it is not cited, hypertrophic cardiomyopathy is often associated with the disease. In this study, we present a nine-year-old boy with LEOPARD syn...

Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormali...

We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe congenital heart defect, and renal agenesis. These features s...

ing the duplication generates increased levels of EFNB1 transcript, compared to the normal chromosome. We also show that imbalance of ephrin-B1 between X chromosomes in a mouse model containing a hypomorphic Efnb1 conditional allele results in aberrant cell mixing of the cranial primordia during development and hypertelorism. Taken together these data suggest that cellular mosaicism for differe...

A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder in childhood with subsequent dyspepsia. The dysmorphic features did not become evident until later ...

for 2003, it’s almost a requirement to reflect on the year gone by. By many accounts, 2002 will be known as the year of reports. The most influential report belongs to the Romanow Commission on the Future of Health Care in Canada; the most pragmatic, the final report of the Canadian Nursing Advisory Committee; and the most flamboyant release, Senator Kirby’s Final Report of Federal Role in Heal...