Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.

The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. In addition to the common components of BCD syndrome that involve eyelids, lip, and teeth abnormalities, this patient is the third reported BCD case with imperforate anus, the second with thyroid agenesis, and the first with lumbosacral meningomyelocele.

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.

Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C. Both parents were heterozygous for the deletion. Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges. In addition, he had wormian bones and pyriform aperture stenosis, features that are usually under diagnosed. It is clear that Raine syndrome has a wide range of expression and may not be lethal in the neonatal period. Furthermore, Raine cases due to whole gene deletion do not seem to have a major difference in the phenotype over those caused by various mutations.

Juvenile allergic urethritis with urethro-ejaculatory reflux presenting as acute intermittent bilateral testicular torsion.

We report a case of juvenile allergic urethritis secondary to double concentrate orange squash of a famous brand in a 3-year-old boy who developed bilateral urethro-ejaculatory reflux (UER) and severe urethral, perineal and scrotal pain referred to both lower limbs intermittently predominantly during and after micturition-simulating features of bilateral intermittent testicular torsion. Accurate history, urinalysis, ultrasound, colour Doppler and food challenge were helpful in diagnosis. Topical steroids, antihistaminic, analgesic and anti-inflammatory medications together with withdrawal of the allergen produced complete recovery. Allergic urethritis in association with bilateral UER causing secondary seminal vesiculitis and epididymitis is rare. It presented as acute scrotum and responded to innovative treatment. Allergic disease can have a dramatic effect on a child's quality of life. This is the first documented case of allergic urethritis and associated UER presenting as juvenile acute scrotum. Steroids, antihistamines and anti-inflammatory agents together with avoidance of the allergen helped achieve recovery.

CT Pelvis in Children; Should We Routinely Scan Pelvis for Wilms Tumor and Hepatoblastoma? Implications for Imaging Protocol Development.

Wilms tumor and hepatoblastoma are the most common intra-abdominal solid organ childhood tumors. CT examination is one of the routinely performed procedures in hospitals for children with these tumors inspite of high radiation exposure associated with CT scans. Sixty patients (Wilms tumor = 45, hepatoblastoma = 16) were evaluated retrospectively. Higher proportion (44.4%) of metastatic disease was identified at presentation in the Wilms tumor subset as compared to hepatoblastoma (6.3%) [p=0.006]. Metastatic disease was noted in 6 patients having Wilms tumor on follow-up while it was also low in hepatoblastoma which was noted in only 2 patients (p > 0.05). No significant difference was identified in pelvic extension of disease at presentation in both studied population (p > 0.05). Pelvic metastasis was noted in 1 patient only with Wilms tumor on follow-up while no pelvic metastasis was seen in the hepatoblastoma patients (p-value > 0.05).