22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report.

BACKGROUND: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion. OUTCOME: At 32 weeks, the patient was admitted for premature rupture of membranes and gave birth 2 weeks later to a male newborn who presented a respiratory distress syndrome and probably died secondary to a tracheal stenosis. Necropsy revealed typical clinical features of 22q11 deletion associated with left renal agenesis, hypospadias, and penile hypoplasia. CONCLUSION: We report a case of 22q11 deletion syndrome with typical clinical features associated with urogenital manifestations suspected at the first trimester ultrasound.

Epibulbar osseous choristoma: a clinicopathological case series and review of the literature.

BACKGROUND: Choristomas are benign, congenital tumours composed of normal tissue in an abnormal location. Osseous choristomas represent the rarest form of epibulbar choristomas, with now 65 cases reported in the literature. We did a retrospective clinicopathological study of all patients with epibulbar osseous choristoma observed at our institution since 1982 and updated the last review of the literature. HISTORY AND SIGNS: Three Caucasian male patients, aged between 3 months and 11 years, were identified. All osseous choristomas were located under the superotemporal bulbar conjunctiva of the right eye. THERAPY AND OUTCOME: All lesions were managed with surgical excision. Histopathology revealed the presence of lamellar bone in all cases, one of which was associated with a dermolipoma. CONCLUSIONS: We report a small rare case series of 3 epibulbar osseous choristomas and did a review of the literature. In one patient, the osteoma was associated with a dermolipoma, corresponding to the fourth reported complex choristoma of this type, in an otherwise normal eye, in the literature.