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

Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion.

European journal of pediatrics - 1 Aug 1997

Chandler K E, de Die-Smulders C E, Engelen J J, Schrander J J

Abstract excerpt

UNLABELLED: Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome), growth and mental retardation, microcephaly ear and nose dysmorphism and joint and digit abnormalities. We report on a 3-year-old girl with the phenotype of BPES, mental retardation, facial dysmorphism and camptodactyly. In addition, she had a...

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 Child, Preschool
Share to Chromosomes, Human, Pair 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Phenotype

Share to Syndrome

Source

Identifiers

PMID: 9266197
DOI: 10.1007/s004310050681

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion.PMID 9266197Read ↗

Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).Semantic proximity Read ↗

Delineation of the proximal 3q microdeletion syndrome.Semantic proximity Read ↗

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresSemantic proximity Read ↗

Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections.Semantic proximity Read ↗

Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.Semantic proximity Read ↗

Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.Semantic proximity Read ↗

Interstitial deletion of a proximal 3p: a clinically recognisable syndrome.Semantic proximity Read ↗

De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.Semantic proximity Read ↗

Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype.Semantic proximity Read ↗

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.Semantic proximity Read ↗

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23Semantic proximity Read ↗

Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review.Semantic proximity Read ↗

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