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Radiographic examination showed very small anterior fontanelle, opened but overriding sutures, and very large eye sockets. The long bones of the upper limbs were relatively short with metaphyseal broadening. Chromosomal examination from peripheral blood lymphocytes revealed normal male karyotype 46, XY. FISH (fluorescent in-situ hybridization) studies were performed, which ruled out 13q deletion. Just before death, he was afebrile when admitted to hospital for artificial ventilation because of episodes of apneic spells. He died at age 70 days. Permission for autopsy was refused. She was the younger sister of Patient 1. Head size was closely monitored during pregnancy and fetal ultrasonography at 17 week of gestation showed a BPD of 28?mm, an abdominal circumference [http://www.selleckchem.com/products/otx015.html http://www.selleckchem.com/products/otx015.html] of 108?mm, and a calculated OFC of 106?mm and at 19 week of gestation showed a BPD of 32?mm, an abdominal circumference of 129?mm, and a calculated OFC of 120?mm (?10th centile). At 31 weeks, BPD was at 50?mm ([http://www.selleckchem.com/btk.html BTK assay] brain especially that involves the frontal lobes as well as the posterior cerebral hemispheres. No evidence of gyral development and non-identifiable sulci were observed. Agenesis of corpus callosum with communication of the anterior interhemispheric fissure with the third ventricle, underdeveloped pons with flattened pontine flexure, and small sized cerebellum with a small transverse cerebellar diameter measure 14.6?mm that corresponds to 14�C15 weeks were documented. The size of cerebellum and brainstem looks proportionate to the very small cerebral hemisphere. No other gross fetal anomalies were noted. Further, craniofacial distortions is recognized with frontal sloping, a nearly absent cranial vault, and small mandible. The results of the imaging studies and their interpretation were discussed with the parents and termination of the pregnancy was presented as a possible option and was declined by the parents. A baby girl was born at 40 weeks of gestation by standard vaginal vertex delivery. Her weight, length, and OFC were 1,300?kg (?3.7 SD), 36?cm (?6.9 SD), and 21?cm (?8.1 SD), respectively. She had very severe congenital [http://en.wikipedia.org/wiki/Transducin Transducin] microcephaly with similar facial features like her deceased brother including absent cranial vault, sloping of forehead, prominent and overhanging nasal tip, relatively large simple ears, and micro-retrognathia (Fig. 1). Sacral sinus and clenched hands were also noted. Neonatal reflexes (Moro, rooting, and grasping) were present. Brain MRI at the age of 2 weeks confirmed the findings of the fetal MRI showing extremely simplified gyral pattern with thin cerebral cortex, poorly developed olfactory groves and non-identifiable olfactory bulbs, large interhemispheric cyst and proportionately affected cerebellum and brain stem.