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Sergio Cavalheiro, Marcos Devanir Silva da Costa, Jardel Mendonça Nicácio, Patricia Alessandra Dastoli, Italo Capraro Suriano, Mauricio Mendes Barbosa, Hérbene Jose Milani, Stéphanno Gomes Pereira Sarmento, Tereza Cristina Carbonari de Faria and Antonio Fernandes Moron

–7 One of every three patients with OE dies, and the majority of these deaths occur in the 1st year of life. Of those who survive, 50% will experience some neurodevelopmental impairment or drug-resistant seizures. 8 , 9 Hydrocephalus, the presence of intracranial abnormalities, the size of the herniated sac, the contents of the neural tissue in the herniated sac, microcephaly, and infection are some of the associated risk factors for death. 6 , 8 Fetal ultrasound enables early diagnosis, with a detection rate of neural defects ranging from 60% to 94%. 10 , 11 In

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Anthony C. Wang, Joseph J. Gemmete, Catherine E. Keegan, Cordelie E. Witt, Karin M. Muraszko, Khoi D. Than and Cormac O. Maher

R oberts /SC phocomelia syndrome is a distinct autosomal recessive genetic syndrome that results from a mutation of the ESCO2 gene on 8p21. 19 Among the more common clinical findings are mental retardation, tetraphocomelia, syndactyly or oligodactyly, arm and leg bone synostoses, microcephaly, prominent wide-spaced eyes, corneal clouding, hypoplastic nasal alae, cleft lip and palate, heart defects, kidney defects, cryptorchidism, enlarged phallus, facial hemangiomata, and growth retardation. 17 Frequently seen neurosurgical anomalies include

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Benjamin W. Y. Lo, Abhaya V. Kulkarni, James T. Rutka, Andrew Jea, James M. Drake, Maria Lamberti-Pasculli, Peter B. Dirks and Lehana Thabane

binary logistic regression techniques. Prior studies, including those by Meanley et al. in 1970, 10 Lorber and Schofield in 1979, 7 and Brown and Sheridan-Pereira in 1992, 2 report several potential poor prognostic markers for developmental outcome, including posterior location of cephaloceles, hydrocephalus, microcephaly, seizure disorder, and presence of brain tissue within the malformation. These studies were limited, however, because they included cases from before the MR imaging era that had incomplete characterization of intracranial abnormalities, and they

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Stephanie L. Da Silva, Yasser Jeelani, Ha Dang, Mark D. Krieger and J. Gordon McComb

anomalies such as microcephaly, absence of the corpus callosum, optic nerve abnormalities, hypothalamic/pituitary dysfunction, fusion of thalami, schizencephaly, holoprosencephaly, arachnoid cyst, Dandy-Walker malformation, Walker-Warburg syndrome, Chiari malformation, craniosynostosis, hypertelorism, hemifacial microsomia, cleft lip/palate, Klippel-Feil malformation, myelomeningocele, and hydrosyringomyelia. 3 , 5 , 17 , 22 , 27 , 34 The prognosis for a newborn with an encephalocele depends on a number of factors and includes the location, size, and contents of the

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James S. Waldron, Steven W. Hetts, Jennifer Armstrong-Wells, Christopher F. Dowd, Heather J. Fullerton, Nalin Gupta and Michael T. Lawton

for repeat angiography at 1 year. Discussion Microcephalic osteodysplastic primordial dwarfism type II is a rare primordial dwarfism with characteristic features: severe intrauterine growth retardation, severe postnatal growth retardation, normocephaly at birth that becomes microcephaly over time, bone dysplasia, beaklike nose, high-pitched voice, normal or near normal intelligence, and an outgoing personality. 1 , 5 , 7 , 8 Structural abnormalities have been observed in the brain, including abnormal myelinization, cysts in the corpus callosum, and unusual

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Perran Boran, Fatma Oğuz, Andrzej Furman and Sibel Sakarya

such as rickets, cleidocranial dysostosis, and increased cranial pressure. 3 , 13 In contrast, a small fontanel and early closure can indicate hyperthyroidism, disorders that affect brain growth such as microcephaly and craniosynostosis, and other conditions. 3 , 13 Thus, knowing age-related normal variations is important to decide on further investigations. In 2007, the World Health Organization (WHO) released growth charts that suggested that unconstrained growth of economically advantaged, breastfed infants and children does not substantially vary and that a

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Timothy E. Hopkins and Stephen J. Haines

syndrome (growth retardation, microcephaly, craniosynostosis, and multiple other abnormalities) 14 had been diagnosed was brought to the emergency department for evaluation after suffering two apneic episodes at home. The first episode lasted several minutes, with cyanosis, and resolved spontaneously. The second episode was less severe, yet it prompted his mother to have him evaluated. In the emergency room, he again suffered an apneic spell, with accompanying bradycardia (to a rate of 16 beats/minute). He was resuscitated and intubated and was admitted for evaluation

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Patrick J. Codd, R. Michael Scott and Edward R. Smith

S eckel syndrome is a rare, autosomal recessive primordial dwarfism delineated by coincident findings of severe intrauterine and postnatal growth retardation, microcephaly with severe mental retardation, and facial dysmorphisms including a receding forehead, micrognathia, large or protruded eyes, and a large beaked nose. 1 , 20 These facial anomalies led Virchow to coin the term “bird-headed” dwarfism, a designation formerly used to describe the condition. Moyamoya syndrome is a chronic, progressive cerebrovascular disorder of unknown cause that is

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Mario Teo, Jeremiah N. Johnson, Teresa E. Bell-Stephens, Michael P. Marks, Huy M. Do, Robert L. Dodd, Michael B. Bober and Gary K. Steinberg

recessive genetic disorder caused by mutations in the pericentrin gene or PCNT , which organizes the mitotic spindle. The loss of PCNT impedes cell division, decreases cellularity of the embryo, and leads to severe growth restriction. 9 Features include proportionate intrauterine growth retardation, poor postnatal growth, extremely small stature (adult height < 100 cm), severe microcephaly, skeletal dysplasia, characteristic facial features, and normal or near-normal intelligence. 7 Previous studies 1 , 3 have shown that 25%–50% of patients with MOPD II have

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Edgar F. Fincher

weeks after the craniotomy, at which time the arachnoid was accidentally opened, and part of the temporal expansion is the result of fluid escape under the scalp exposure. ( right ). The recent selection of babies has been on the basis of focal irritations, intelligent appearances and freedom from any suggestive spasticities. COMMENT It appears that birth trauma is a definite factor in some cases of microcephaly. The subdural hemorrhagic membrane in these cases is analogous to the membrane of pachymeningitis hemorrhagica of the chronic subdural