ABSTRACT
Congenital pseudarthrosis of the clavicle (CPC) is a rare disorder with an unknown etiology, which is caused by a failure of the clavicle ossification nuclei union process. This is the first CPC twin instance documented in Saudi Arabia, and the fourth overall. In the 33rd week, a set of twins was born prematurely with respiratory distress syndrome. They were both admitted to the neonatal intensive care unit. X-rays of the chest were taken, and the clavicular deformity was discovered. Because the twins were born via a cesarean section, a traumatic clavicular fracture was ruled out. The family members were evaluated, and the same defect was discovered in the father as well, highlighting a genetic predisposition.
ABSTRACT
Meckel-Gruber syndrome is a lethal disorder characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In most cases, it is identified and terminated antenatally. In this report, the authors present a case of Meckel-Gruber syndrome together with Dandy-Walker malformation. A pregnant woman referred at the 28th week of gestation with an abnormal ultrasound scan showing posterior encephalocele and bilaterally enlarged kidneys. Further imaging also indicated communication between the 4th ventricle and posterior cerebellar cerebrospinal fluid space, after which the fetus was diagnosed with Meckel-Gruber syndrome and Dandy-Walker malformation. Pregnancy termination was refused by the parents and the offspring was prematurely born to be the 2nd recurrence of Meckel-Gruber syndrome in this consanguine family. Remarkably, at the 3 different pregnancies, ultrasound was inconclusive before the 7th month of gestation. Though up to date Meckel-Gruber syndrome is ultimately lethal, the lifespan of affected newborns varied greatly. We suggest developing a severity classification to estimate life expectancy in unterminated cases.