Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.

Journal of Korean medical science - 1 Nov 2013

Lee Gil-Ho, An So-Yeon, Sohn Young Bae, Jeong Seon-Yong, Chung Yoon-Sok

Abstract excerpt

A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Density
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus, Type 1

Share to Mutation

Share to Osteoporosis

Share to Radiography

Share to Receptor, Notch2

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 24265536
DOI: 10.3346/jkms.2013.28.11.1682
PMCID: PMC3835515

Genes

NOTCH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.PMID 24265536Read ↗

Hajdu-Cheney Syndrome: A Systematic Review of the Literature.Semantic proximity Read ↗

A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome.Semantic proximity Read ↗

Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 MutationsSemantic proximity Read ↗

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.Semantic proximity Read ↗

A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.Semantic proximity Read ↗

[Culler-Jones syndrome caused by a new mutated GLI2 gene: a case report].Semantic proximity Read ↗

A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome.Semantic proximity Read ↗

CRISIS HIPERGLICÉMICA AGUDA COMO DEBUT DE DIABETES MELLITUS Y COVID-19: ¿UNA NUEVA CAUSA DE DIABETES?Semantic proximity Read ↗

Ketoacidosis: an unusual presentation of MELAS.Semantic proximity Read ↗

Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report.Semantic proximity Read ↗

A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity.Semantic proximity Read ↗

Klinefelter syndrome with 48, XXYY karyotype accompanied by diabetic keto-acidosis: a case report and literatures reviewSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.