Results 191 to 200 of about 91,648 (285)

Retrospective analysis of neonatal hydrocephalus over the past 12 years. [PDF]

BMC Pediatr
Huang C, Liu Y, Han T, Wei Y, Gu X, Li R.   +5 more
europepmc   +1 more source

EXTRA-VENTRICULAR (COMMUNICATING) HYDROCEPHALUS: SOME OBSERVATIONS ON THE MIDLINE VENTRICLES [PDF]

, 1969
Taher El Gammal
openalex   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

X-Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report. [PDF]

Clin Case Rep
Horiuchi R, Sato H, Asai C, Hamaguchi F, Takaishi Y, Fujiwara K, Atsumi Y, Ando Y, Kawata T, Kakui K.   +9 more
europepmc   +1 more source

Hydrocephalus—its Diagnosis and Treatment in Adults and Children [Abridged] [PDF]

, 1967
R. D. Hoare
openalex   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Case of Hydrocephalus treated by Tapping [PDF]

NULL AUTHOR_ID
openalex   +1 more source

Treatment of hydrocephalus using saphenous vein homograft. [PDF]

, 1969
Tehemton E. Udwadia
openalex   +1 more source

Delayed TSC Diagnosis Presenting as End‐Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Tuberous sclerosis complex (TSC) is a rare and complex autosomal dominant disease. Many patients with TSC may remain undiagnosed for years due to its widespread and heterogeneous clinical presentation, with only 1% of TSC patients developing end‐stage renal disease (ESRD).
Changlin Wei, Yangfei He, Huairong Yan, Mei Yang, Lichuan Yang, Jiaojiao Zhou   +5 more
wiley   +1 more source

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation. [PDF]

J Clin Invest
Hastar N, Daum H, Kardos-Török N, Ganz G, Obendorf L, Vajkoczy P, Elpeleg O, Knaus P.   +7 more
europepmc   +1 more source