Mian A, Jorwal P. BMJ Case Rep 2017. doi:10.1136/bcr-2017-222743 Description A 15-year-old boy presented with a history of absence of fingernails and toenails since birth. He was the first born of a non-consanguineous marriage, delivered vaginally at term with normal birth weight. His mother admitted to excessive consumption of opioid analgesics (ethyl morphine derivatives) during all three tri...

SUMMARY Microtia is a spectrum of congenital deformities, which varies from barely discernable to anotia. Twinning is a well-known risk factor for congenital defects including external ear deformities. Monozygotic twins usually show identical appearances as well as congenital malformations. In special conditions as ear deformities, "mirror-image" may also occur. We report 2 cases of monozygotic...

Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR...

BACKGROUND Vaginal atresia is often associated with high imperforate anus. Because the commonly used methods of surgical vaginal creation (eg, McIndoe, intestinal segment interposition) may adversely affect urinary and fecal continence, the less-invasive Vecchietti procedure was selected for a young adult with a successfully corrected high imperforate anus. METHODS A 21-year-old was born with...