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

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.

Clinical dysmorphology - 1 Jul 2012

Gupta Neerja, Ghosh Manju, Shukla Rashmi, Das Ganesh Prasad, Kabra Madhulika

Abstract excerpt

Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1), is probably under-reported. It is an X-linked recessive disorder and is characterized by a flat nasal tip, short columella and maxillary hypoplasia,...

Read the complete abstract on PubMed

Topics

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

Share to Brachydactyly
Share to Chondrodysplasia Punctata
Share to Developmental Disabilities

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

Share to Facial Asymmetry

Share to Genetic Diseases, X-Linked

Share to Heart Defects, Congenital

Share to Infant, Newborn

Share to Radiography

Source

Identifiers

PMID: 22581171
DOI: 10.1097/MCD.0b013e32835439cd

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

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.PMID 22581171Read ↗

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: note of concern.Semantic proximity Read ↗

Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.Semantic proximity Read ↗

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.Semantic proximity Read ↗

Chondrodysplasia punctata: case report and review of audiological and ENT features.Semantic proximity Read ↗

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.Semantic proximity Read ↗

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.Semantic proximity Read ↗

Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.Semantic proximity Read ↗

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.Semantic proximity Read ↗

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctataSemantic proximity Read ↗

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.Semantic proximity Read ↗

Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.Semantic proximity Read ↗

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.Semantic proximity Read ↗

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