megalencephaly/edema

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Pathologic quiz case: a 27-week female fetus with massive macrocephaly and generalized anasarca. Congenital immature intracranial teratoma with skull rupture and high output cardiac failure.

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A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester.

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During a routine prenatal exam, a 36-year-old female in her third pregnancy was diagnosed with fetal hydrops at 11 weeks of gestation. The pregnancy was monitored with periodic ultrasounds; however, spontaneous resolution was not observed. Amniotic fluid examination at 16 weeks of gestation showed a

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.

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We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The

[Transient neonatal macrocephaly. The differential diagnosis of abnormally fast-growing skull in newborn infants].

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In a twin baby of low birth weight a transient abnormally increased growth velocity of the head circumference could be observed. Sodium and water retention were recognized as the underlying disturbance responsible for brain edema. This mechanism is one of several possible etiologic factors leading

Unilateral megalencephaly, cerebral cortical dysplasia, neuronal hypertrophy, and heterotopia: cytomorphometric, fluorometric cytochemical, and biochemical analyses.

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A 13-month-old boy with intractable seizures, left hemiparesis, and psychomotor retardation due to right unilateral megalencephaly, died in hypovolemic shock 1 day after hemispherectomy. The gyral pattern of the hypermegalic hemisphere was simplified and coarse. The cortical cytoarchitecture was

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

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Simpson-Golabi Behmel syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al. [1975: BD:OA XI(2):18-24], a wide clinical range of

Megalencephaly in sudden infant death syndrome.

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The fresh brain weights of 79 infants with sudden infant death syndrome (SIDS) were tabulated and compared with expected "normal" brain weights. The series included 47 males and 32 females. Their ages ranged from 8 days to 16 months with a median of 2.5 months. The weights of all these brains were

Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain.

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Megencephaly, enlarged brain, occurs in several acquired and inherited human diseases including Sotos syndrome, Robinow syndrome, Canavan's disease, and Alexander disease. This defect can be distinguished from macrocephaly, an enlarged head, which usually occurs as a consequence of congenital

Russell-Silver syndrome with cleft palate: a case report.

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Russell-Silver syndrome (RSS) is characterized by intrauterine growth retardation, short stature without postnatal catch-up growth, and an inverted triangular face with relative macrocephaly. There have been few case reports of RSS with cleft palate, in which perioperative problems

Cesarean delivery for fetal malformations.

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We reviewed existing data on fetal abnormalities to provide guidelines to determine which conditions have an improved neonatal outcome by cesarean delivery. We used Medline database to search for English language papers on a variety of fetal conditions that could influence the mode of delivery. We

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.

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OBJECTIVE To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2). METHODS A 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation because of advanced maternal age and sonographic

Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.

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We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker

Acquired Chiari I malformation and syringomyelia after valveless lumboperitoneal shunt in infancy.

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The authors present the case of a 13-year-old boy who experienced frequent disabling episodes of typical postural induced headaches, which revealed a Chiari I malformation, syringomyelia and cervical spinal cord edema. This boy had received a valveless lumboperitoneal (LP) shunt at the age of 18

Bilateral Serous Retinal Detachment from Neonatal-Onset Multisystemic Inflammatory Disorder.

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Neonatal-onset Multisystem Inflammatory Disorder (NOMID) is a systemic syndrome characterized by rash, large joint osteoarthropathies and chronic meningitis. Ocular manifestations include optic disc edema, corneal opacities and uveitis. We report the novel finding of serous retinal

Prenatal Diagnosis, Management, and Outcome of Fetal Subdural Haematoma: A Case Report and Systematic Review.

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Fetal subdural haematoma (SDH) is associated with poor prognosis.The conflicting evidence from the literature presents a challenge in prenatal counselling. We present a case study and systematic review of the literature for the management and outcome of

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