Prenantal diagnosis of X‐linked hydrocephaly

Egmond-Linden, Anneke van; Wladimiroff, J. W.; Jahoda, M. G. J.; Niermeijer, M. F.; Sachs, E. S.; Stefanko, S. Z.

doi:10.1002/pd.1970030310

Cited by 15 publications

(8 citation statements)

References 16 publications

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“…Fetal ultrasonography has been reported to be useful for the early diagnosis of hydrocephalus. Van Egmond-Linden, et al, 25 and Kelley, et al, 13 reported an abnormal increase in the lateral ventricular width/hemispheric width ratio at 18 or 19 weeks of gestation in cases at risk for Xlinked hydrocephalus. In our series, the earliest detection of ventriculomegaly by ultrasonography was made at 21 weeks of gestation.…”

Section: Discussionmentioning

confidence: 99%

“…Their hypothesis was strengthened by similar findings reported by others. 21,25,26,29 Renier, et al, 21 proposed a new terminology for this disease, "Xlinked congenital hydrocephalus," instead of "X-linked aqueductal stenosis." In our series, MR images demonstrated patency of the aqueduct in four of five patients with adequate imaging studies available.…”

Section: Discussionmentioning

confidence: 99%

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A clinical and neuroradiological study of X-linked hydrocephalus in Japan

Yamasaki¹,

Arita²,

Hiraga³

et al. 1995

Journal of Neurosurgery

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To clarify the clinicopathological features of X-linked hydrocephalus, the authors studied 30 affected males from 15 families. In utero ultrasonography, performed at 21 to 40 weeks of gestation, revealed 18 fetuses with hydrocephalus. Computerized tomography (CT) revealed bilateral enlargement of the lateral ventricle with preponderant dilation of the posterior horn. In five patients with complete magnetic resonance (MR) imaging data, the most specific finding was localized atrophy of the anterior vermian lobe. Other MR imaging findings included a large massa intermedia, flat corpora quadrigemina, a small brainstem, and diffuse hypoplasia of the cerebral white matter. In all cases, the corpus callosum was hypoplastic or aplastic. The aqueduct was patent in four of five cases. Asymmetrical reduction of the ventricular size and a rippled ventricular wall were characteristic postshunt CT findings. Progressive macrocephaly and symptoms due to increased intracranial pressure were ameliorated by the shunt; however, the neurological outcome was not improved by shunting. Of 14 patients who lived to be between 2 and 18 years of age, all are retarded. These results indicate that X-linked hydrocephalus is not a disease of simple ventriculomegaly due to aqueduct stenosis alone but involves other complicated central nervous system anomalies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A clinical and neuroradiological study of X-linked hydrocephalus in Japan

Yamasaki¹,

Arita²,

Hiraga³

et al. 1995

Journal of Neurosurgery

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“…Affected girls have been reported in a few other families [Bianchine and Lewis, 1974;Macias et al, 19921. Prenatal ultrasound diagnosis of MASA syndrome in a male fetus is not possible. Prenatal diagnosis by ultrasound of HSAS is possible but not reliable, because of the variable clinical spectrum of the disorder [Van Egmond-Linden et al, 1983;Willems et al, 19921. For these reasons, DNA linkage analysis is of great importance for genetic counseling, and to offer families the possibility of early prenatal diagnosis by chorionic villus sampling [Serville et al, 19931. DNA linkage analysis maps the locus for both MASA syndrome and HSAS a t Xq28.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

et al. 1995

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X-linked hydrocephalus (HSAS) (MIM *307000), MASA syndrome (MIM *303350), and complicated spastic paraplegia (SPG1) (MIM *312900) are closely related. Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show great clinical overlap; DNA linkage analysis places the loci at Xq28. In an increasing number of families with MASA syndrome or HSAS, mutations in L1CAM, a gene located at Xq28, have been reported. In order to further delineate the clinical spectrum, we studied 6 families with male patients presenting with MASA syndrome, HSAS, or a mixed phenotype. We summarized data from previous reports and compared them with our data. Clinical variability appears to be great, even within families. Problems in genetic counseling and prenatal diagnosis, the possible overlap with X-linked corpus callosum agenesis and FG syndrome, and the different forms of X-linked complicated spastic paraplegia are discussed. Since adducted thumbs and spastic paraplegia are found in 90% of the patients, the condition may be present in males with nonspecific mental retardation. We propose to abandon the designation MASA syndrome and use the term HSAS/MASA spectrum, incorporating SPG1.

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“…The association of aqueductal stenosis has lead to the assumption that all X-linked HC was primarily from this anomaly. Isolated cases of HC without aqueductal stenosis within pedigrees of X-linked HC with aqueductal stenosis have been reported [Fandre et al, 1972;Landrieu et al, 1979;Renier et al, 1982;Van Egmond-Linden et al, 1983;Varadi et al, 1987;Willems et al, 19871. In their review of the literature, Willems et al [19871 reported several associated anomalies, but did not include cerebellar hypoplasia.…”

Section: Discussionmentioning

confidence: 99%

Oto‐palatal‐digital syndrome type II with X‐linked cerebellar hypoplasia/hydrocephalus

Stratton

Bluestone

1991

Am. J. Med. Genet.

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We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X-linked disorder has not been reported previously to occur in association with OPD II. This patient had 2 maternal uncles who died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. We suggest that these 2 entities may be located near one another on the X chromosome, and that both loci are affected in this family.

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Prenantal diagnosis of X‐linked hydrocephaly

Cited by 15 publications

References 16 publications

A clinical and neuroradiological study of X-linked hydrocephalus in Japan

A clinical and neuroradiological study of X-linked hydrocephalus in Japan

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

Oto‐palatal‐digital syndrome type II with X‐linked cerebellar hypoplasia/hydrocephalus

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