A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, mult...

The face is a reflection of our genome. Facial deformities are oftentimes harbingers of an underlying disease states. For example, decreased Hedgehog activity in the developing craniofacial region causes holoprosencephaly and close-set eyes (hypotelorism). We found that excessive Hedgehog activity, caused by truncating the primary cilia on cranial neural crest cells, led to hypertelorism and fr...

Background Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. Methods The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate. The baby was born in Cambodia at full term by normal vaginal delivery with no significant perinatal and family history. Physical examination revealed significant facia...

A sixteen year old girl presented with history of hemoptysis of one week duration. She had history of dyspnea on exertion and frequent respiratory infections in childhood. She had short stature, hypertelorism, neurofibroma, café au lait spots and multiple lentigines. She had features of severe pulmonary hypertension and differential clubbing and cyanosis. A final diagnosis of LEOPARD syndrome w...

Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant genetic syndrome caused by mutations in the gene encoding transforming growth factorreceptor 1 or 21 with no known cardiac involvement. Common characteristics include aortic and arterial aneurysms or dissections, orbital hypertelorism, and cleft palate or bifid uvula. We report the first case of a cardiomyopathy associated wi...

Basal encephalocele is a rare craniofacial anomaly. In the present paper we report a 10-year-old boy presented with cleft palate, congenital nystagmus, and hypertelorism. During preoperative evaluation for cleft palate repair, a pulsatile mass was detected in the pharynx. Magnetic resonance imaging showed sphenoethmoidal type of basal encephalocele and agenesis of corpus callosum. Neurosurgical...

INTRODUCTION Crouzon syndrome is an autosomal dominant genetic disease characterized by bicoronal craniosynostosis, exorbitism with hypertelorism, and maxillary hypoplasia with mandibular prognathism. CASE OUTLINE We present the first reported case of Crouzon syndrome associated with a bilateral con- genital cholesteatoma of the temporal bone and discuss about the potential pathogenesis. CO...

A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included promi...