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1. 小児の水頭症：病態生理、発症機序、病因hydrocephalus in children physiology pathogenesis and etiology [show details]
… Adducted thumbs), X-linked spastic paraplegia type 1, and X-linked agenesis of the corpus callosum. Central nervous system (CNS) malformations are frequently associated with hydrocephalus. In the Chiari malformations …
2. 小児の水頭症：臨床的特徴と診断hydrocephalus in children clinical features and diagnosis [show details]
… The following terms are used this topic: Obstructive hydrocephalus – Obstructive hydrocephalus (also called noncommunicating hydrocephalus) refers to excess accumulation of cerebrospinal fluid (CSF) …
3. 遺伝性痙性対麻痺hereditary spastic paraplegia [show details]
… Adducted thumbs). SPG1 is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene . X-linked hydrocephalus is an allelic syndrome. SPG2 is caused by a mutation in the PLP1 gene. This gene encodes … autosomal recessive HSPs are usually associated with a complicated phenotype. SPG5 and SPG11 are the most common autosomal recessive types. X-linked HSPs typically cause…
4. 小児の水頭症：マネージメントと予後hydrocephalus in children management and prognosis [show details]
… The following terms are used this topic: Obstructive hydrocephalus – Obstructive hydrocephalus (also called noncommunicating hydrocephalus) refers to excess accumulation of cerebrospinal fluid (CSF) …
5. 胎児脳室拡大fetal cerebral ventriculomegaly [show details]
… is narrow or consists of several minute channels The narrowing may be developmental (eg, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius) or due to acquired changes, such as fibrosis from …

English Journal

Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern.

Alhousseini A, Zeineddine S, Husseini A, Baddah H, Saker H, Mody S, Ibrahim SA, Thakur M, Hernandez-Andrade E, Bahado-Singh R.
Gynecologic and obstetric investigation. 2019 Apr;()1-5.
X-linked recessive mutations predominantly affect male fetuses with milder or no abnormalities in female siblings. Most reports show only one affected member in the family. We are reporting a family affected with hydrocephalus, stenosis of the aqueduct of Sylvius, dysgenesis of the corpus callosum,
PMID 30965333

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S.
European journal of human genetics : EJHG. 2019 Apr;27(4)525-534.
Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominan
PMID 30622331

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in .

Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L.
BioMed research international. 2018 ;2018()4032543.
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases. To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features. Most of them are autosomal recessive, while only the subtype 10 (JBTS10) is a quite rare X-l
PMID 30581852

Japanese Journal

Familial Occurrence of Congenital Anomalies of the Central Nervous System

OI Shizuo,YAMADA Hiroshi,URUI Seishiro,MATSUMOTO Satoshi
Neurologia medico-chirurgica 28(6), 562-567, 1988
… Among this series were three cases of craniosynostosis, two of hydrocephalus, one of lissencephaly, and one of arachnoid cyst. … With the exception of the arachnoid cyst, in all cases the incidence pattern suggested an hereditary mode other than X-linked. … In this series the incidences of sibling involvement by type of anomaly were 16.7% for lissencephaly, 10.7% for craniosynostosis, 2.6% for congenital hydrocephalus, and 2.6% for arachnoid cyst. …
NAID 110002277727