2010
DOI: 10.1002/uog.8064
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OP15.07: Can syndromic macrocephaly be diagnosed in utero?

Abstract: of 103 babies (median 8 years, range 2-19 years) shows normal intellectual ability in 79 cases (76.6%). Prenatal VM correlates with postnatal IQ: babies with absent VM shows normal intellectual ability in 84.2% (mean IQ = 95.4), whereas babies with progressing prenatal VM had normal outcome in 66.6% (mean IQ = 85). The ability to walk is present in 63 cases (61.2%); the sfincterial function shows severe impairment in 64 cases (62.1%). In comparing 2 periods in our series, February 1980-June 1994 and July 1994-… Show more

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Cited by 3 publications
(8 citation statements)
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“…Generally, MEG and HMEG are associated with macrocephaly, related to expansion of brain parenchyma, and do not show enlargement of subarachnoid spaces, intracranial tumors or abnormalities of the skull 4 . In contrast with MEG, in which overgrowth is diffuse and symmetrical, HMEG is defined by asymmetrical brain overgrowth, with midline shift 5 . Definitions of MEG and HMEG differ, depending on whether diagnostic criteria are based on imaging (ultrasound, magnetic resonance imaging (MRI)) or pathology 4–6 .…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…Generally, MEG and HMEG are associated with macrocephaly, related to expansion of brain parenchyma, and do not show enlargement of subarachnoid spaces, intracranial tumors or abnormalities of the skull 4 . In contrast with MEG, in which overgrowth is diffuse and symmetrical, HMEG is defined by asymmetrical brain overgrowth, with midline shift 5 . Definitions of MEG and HMEG differ, depending on whether diagnostic criteria are based on imaging (ultrasound, magnetic resonance imaging (MRI)) or pathology 4–6 .…”
Section: Introductionmentioning
confidence: 99%
“…In contrast with MEG, in which overgrowth is diffuse and symmetrical, HMEG is defined by asymmetrical brain overgrowth, with midline shift 5 . Definitions of MEG and HMEG differ, depending on whether diagnostic criteria are based on imaging (ultrasound, magnetic resonance imaging (MRI)) or pathology 4–6 . Limb overgrowth involves bones and soft tissue (subcutaneous fatty tissue and muscle), and may be associated with slow‐flow vascular malformations, particularly lymphatic malformations (LM) 7 .…”
Section: Introductionmentioning
confidence: 99%
“…As in osteodystrophies, these often become apparent later in infancy, although some can present prenatally. Examples include mucopolysaccharidoses and other lysosomal storage disorders, as well as Alexander (GFAP mutation), Canavan disease (ASPA deficiency) and megalocephalic leukoencephalopathy with subcortical cysts (MLC1) 4,25 . Metabolic storage diseases such as mucopolysaccharidoses and mucolipidoses can also produce macrocephaly due to the deposition of abnormal metabolites in the meninges and arachnoid granulation, resulting in cerebrospinal fluid malabsorption 26 …”
Section: Megalocephalic Macrocephalymentioning
confidence: 99%
“…Most cases are familial in origin, and it is worth measuring and plotting the biological parents’ head circumference to determine if their head sizes are large. Reported developmental outcomes from small studies are usually typical in isolated cases 54–56 …”
Section: Micro‐ and Macrocephalymentioning
confidence: 99%
“…Reported developmental outcomes from small studies are usually typical in isolated cases. [54][55][56] Where there are other malformations, possible aetiologies include Sotos syndrome (NSD1 gene), mutations in the NFIX gene, neurofibromatosis type 1, Klippel-Trenaunay syndrome, conditions associated with capillary malformations, including the macrocephaly-capillarymalformation syndrome, and Cowden syndrome, which is associated with hamartomas, and mutations in the PTEN gene. 57,58 Other aetiologies include fetal tumours, expanding intracranial cysts, megalencephaly, and glutaric aciduria type 1.…”
Section: Micro-and Macrocephalymentioning
confidence: 99%