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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
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
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
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
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
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, 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 (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 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
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
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
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
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 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