We describe here a fetus with holoprosencephaly and signs of caudal deficiency sequence. Chromosome examination showed a de novo balanced reciprocal translocation (7;22) (q36;q11) with loss of the derivative chromosome 22 in 50% of the cells examined. The present report and available published data indicate that the terminal region of the long arm of chromosome 7 contains genes implicated in th...

Maternal diabetes increases the risk of congenital malformations in the offspring of affected pregnancies. This increase arises from the teratogenic effect of the maternal diabetic milieu on the developing embryo, although the mechanism of this action is poorly understood. In the present study, we examined whether the vitamin A metabolite retinoic acid (RA), a common drug with well-known terato...

OBJECTIVE To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. METHODS We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital,...

BACKGROUND Post surgery syndrome resulting in persistent pain following lumbar spine surgery is common. Speculated causes of post lumbar surgery syndrome include stenosis, degeneration of adjacent segments, internal disc disruption, recurrent disc herniation, retained disc fragment, epidural or intraneural fibrosis, radiculopathy, and various other causes. Epidural injections are most commonly ...

The author reviews the clinical and pathological features of sacral agenesis, with emphasis on the resulting neurologic deficits and the association in many cases with maternal diabetes mellitus. The demonstrated wide spectrum genetic defects are reviewed in the context of molecular genetic regulation of ontogenesis of bony and neural spinal structures. Differential diagnosis from meningomyeloc...

Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopi...

Sirenomelia or "mermaid syndrome" is a rare congenital syndrome characterized by the anomalous development of the caudal region of the body. We present a case of sirenomelia diagnosed in the first trimester using two-dimensional and three-dimensional ultrasonographic examination. A nulliparous woman aged thirty years was referred to our perinatology unit for evaluation because of oligohydramnio...