This case report presents a pediatric patient with the extremely rare craniovertebral junction anomaly of occipitocondylar hyperplasia. This 4-year old boy presented with macrocephaly and mild to moderate pontomedullary compression from the unilateral occipitocondylar hyperplasia. Based on the asymptomatic clinical presentation, it was decided to follow the patient with serial magnetic resonanc...

Note: The Perlman syndrome is characterized by polyhydramnios, fetal overgrowth, neonatal macrosomia, high neonatal mortality, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis and a predisposition for Wilms tumor at very early age. Inheritance: Inheritance is of an autosomal recessive nature. Etiology: The genetic basis of the Perlman syndrome is unknown and there is...

A 12-month-old healthy, normally developing boy presented with rapidly increasing head circumference over 2 months and 1 week of strabismus. Head circumference was 50 cm (.99th percentile; mother 5 59.5 cm; father 5 56.5 cm). Examination showed limited abduction OD, overshoot of adduction OD, and no papilledema. MRI (figure) showed the right anterior inferior cerebellar artery traversing the ro...

Sotos syndrome is a congenital disorder that is characterised by pre and post natal overgrowth, mental retardation of variable degree, advanced bone age, and distinctive craniofacial features like macrocephaly frontal bossing and high hair line. Recently several reports have presented that haploinsufficiency of the gene for NSD1 (the nuclear-receptor-binding SET-domain-containing protein 1) at ...

Introduction Pycnodysostosis (PDO) is a rare autosomal recessive lysosomal storage disease of the bone caused by a mutation in a gene mapped to chromosome 1q21 that codes for the enzyme cathepsin K (CTSK). Pycnodysostosis (Greek: pycnos = dense; dys = defective; osteon = bone) was first coined in 1962 by Maroteaux and Lamy [1], although the first case fitting the description may have been repor...

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is l...

Two sisters, aged 6 and 2 1/2 years, presented with macrocephaly and delayed motor development and were found on computerized tomography to have bilateral arachnoid cysts of the sylvian region. Cystoperitoneal shunting of the larger cysts resulted in considerable neurological improvement in both children. Subsequent screening of the patients' urine for organic acids showed that the two sisters ...

Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in the field of dentistry because of its characteristic craniofacial features which include relative macrocephaly, depressed nasal bridge and maxillary hypoplasia...

Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia. A knockout mouse for CD which was enginee...

Malignant gliosarcoma is an extremely rare, anaplastic tumor which to date has been found exclusively in adults. This type of sarcoma is a form of mixed glioma and sarcoma which is quite different and distinct from the type of sarcoma that arises in a glioblastoma [1]. Less than 10 cases of this entity have been reported [2-5]. We report a case of this unusual tumor in a 4-month-old girl who ha...