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

The KBG syndrome.

Clinical dysmorphology - 1 Apr 2000

Smithson S F, Thompson E M, McKinnon A G, Smith I S, Winter R M

Abstract excerpt

We report on two boys with a combination of short stature, a broad face, macrodontia and developmental delay. These features suggest that they have the KBG syndrome, a rare but distinctive phenotype. The pattern of inheritance remains uncertain and both autosomal dominant and X-linked recessive inheritance should be considered in genetic counselling.

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Body Height
Share to Bone and Bones

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Family Health

Share to Phenotype

Share to Tooth Abnormalities

Source

Identifiers

PMID: 10826617
DOI: 10.1097/00019605-200009020-00002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

The KBG syndrome.PMID 10826617Read ↗

Natural history of KBG syndrome in a large European cohort.Semantic proximity Read ↗

Clinical and genetic aspects of KBG syndrome.Semantic proximity Read ↗

KBG syndrome in a Chinese population: A case series.Semantic proximity Read ↗

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.Semantic proximity Read ↗

Child with KBG syndrome.Semantic proximity Read ↗

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.Semantic proximity Read ↗

KBG syndrome: Common and uncommon clinical features based on 31 new patients.Semantic proximity Read ↗

KBG syndrome in a cohort of Italian patientsSemantic proximity Read ↗

Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.Semantic proximity Read ↗

The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.Semantic proximity Read ↗

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.Semantic proximity Read ↗

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.Semantic proximity Read ↗

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