A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypoth...

Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

Agenesis and hypoplasia of the internal carotid artery (ICA) are rare congenital anomalies, occurring in less than 0.01% of the population. We report a rare case of bilateral hypoplasia of the ICA in a patient with post-traumatic subarachnoid hemorrhage. We describe the embryological development of the cerebral vasculature and present a review of literature.

Note: CHH was first described in the Amish, an isolated religious group in the USA by Victor McKusick in 1965. It is a multi-systemic disorder characterized by short stature, blond fine sparse hair, but this may be quite variable, and defective cellular immunity predominantly affecting T-cell mediated responses. Patients may have severe combined immunodeficiency, requiring bone marrow transplan...

An 18-year-old man with no prior surgical history presented with left knee pain after sustaining a basketball injury and was diagnosed with transient patellar dislocation. Magnetic resonance imaging was ordered to further assess the extent of injury.

Attention was drawn by Goltz, Peterson, Gorlin, and Ravits (1962) to a rare syndrome of multiple congenital defects affecting tissues of both mesodermal and ectodermal origin. The universal feature of their three initial cases was the skin abnormality, which consisted of areas of extremely thin or absent dermis, frequently with localized herniations of subcutaneous fat into the epidermis appear...

Congenital anomalies of the optic disc underlie many cases of decreased vision, strabismus, and nystagmus in childhood. A comprehensive evaluation necessitates an understanding of the ophthalmoscopic features, associated neuro-ophthalmologic findings, pathogenesis, and appropriate ancillary studies for each anomaly. The subclassification of different forms of “colobomatous” defects on the basis...

Background: Pontocerebellar hypoplasia is an autosomal recessive and neurodegenerative disorder divided into sixteen subtypes. type 2B (PCH2B) shows microcephaly combined with epilepsy extrapyramidal dyskinesia chorea due to different homozygous or compound heterozygous pathogenic mutations in the TSEN2 gene. Objectives: This study was aimed find mutation responsible for pontocerebellar two fam...

Absence or hypoplasia of the tibia has been reported to occur as an isolated hereditary malformation as well as a feature of several autosomal recessive and autosomal dominant syndromes. We report three sibs with absence or hypoplasia of the tibia in association with other malformations whose parents are first cousins once removed. These infants appear to have a "new" autosomal recessive syndrome.

Septo-optic dysplasia (SOD) or Morsier syndrome is a rare congenital malformation of infantile neurodevelopment with systemic anatomical and functional involvement. It characterized by optic nerve hypoplasia, midline brain malformation, hypothalamic-pituitary axis hypoplasia. The spectrum clinical manifestations very wide, from ophthalmological problems to endocrinological disorders that determ...