Hydrocephalus Skeletal Anomalies Latest Advances

Clinical and Genetic Insights Into Aymé-Gripp Syndrome: Two Unrelated Cases With Additional Clinical Findings and Paternal Mosaicism.

Journal: Developmental neurobiology

Published: May 28, 2026

Congenital brain malformations associated with COL4A1 gene mutations: A case series.

Journal: Archivos argentinos de pediatria

Published: May 12, 2026

A RARE CASE OF DISCORDANT ANOMALY IN A DICHORIONIC DIAMNIOTIC TWIN PREGNANCY: TESSIER CLEFT WITH SEVERE HYDROCEPHALUS IN A LOW RESOURCE SETTING.

Journal: Annals of Ibadan postgraduate medicine

Published: July 21, 2025

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Journal: Neurogenetics

Published: July 01, 2025

Basilar invagination in osteogenesis imperfecta-Case report.

Journal: Radiology case reports

Published: May 31, 2025

Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice.

Journal: Radiology case reports

Published: April 15, 2025

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

Journal: International journal of surgery case reports

Published: April 10, 2025

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

Journal: Diagnostics (Basel, Switzerland)

Published: December 19, 2024

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Journal: American journal of medical genetics. Part A

Published: November 20, 2024

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Journal: World journal of methodology

Published: October 17, 2024

Unraveling Dandy-Walker Syndrome: A Case Report with Clinical Presentations and Management Insights.

Journal: International journal of clinical pediatric dentistry

Published: August 30, 2024

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

Journal: Frontiers in genetics

Published: April 23, 2024

Hydrocephalus Skeletal Anomalies Latest Advances

Find the Latest Research About Hydrocephalus Skeletal Anomalies

Clinical and Genetic Insights Into Aymé-Gripp Syndrome: Two Unrelated Cases With Additional Clinical Findings and Paternal Mosaicism.

Clinical and Genetic Insights Into Aymé-Gripp Syndrome: Two Unrelated Cases With Additional Clinical Findings and Paternal Mosaicism.

Congenital brain malformations associated with COL4A1 gene mutations: A case series.

Congenital brain malformations associated with COL4A1 gene mutations: A case series.

A RARE CASE OF DISCORDANT ANOMALY IN A DICHORIONIC DIAMNIOTIC TWIN PREGNANCY: TESSIER CLEFT WITH SEVERE HYDROCEPHALUS IN A LOW RESOURCE SETTING.

A RARE CASE OF DISCORDANT ANOMALY IN A DICHORIONIC DIAMNIOTIC TWIN PREGNANCY: TESSIER CLEFT WITH SEVERE HYDROCEPHALUS IN A LOW RESOURCE SETTING.

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Basilar invagination in osteogenesis imperfecta-Case report.

Basilar invagination in osteogenesis imperfecta-Case report.

Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice.

Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice.

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Unraveling Dandy-Walker Syndrome: A Case Report with Clinical Presentations and Management Insights.

Unraveling Dandy-Walker Syndrome: A Case Report with Clinical Presentations and Management Insights.

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.