ReviewOrphanet journal of rare diseases2013
Brachydactyly E: isolated or as a feature of a syndrome.
Review in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E.Frontiers in endocrinology · 2025Article
- A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Molecular genetics & genomic medicine · 2024Article
- A novel mutation inBone reports · 2023Article
- A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.BMC pediatrics · 2022Article
- A novel variant in theJAAD case reports · 2022Article
- Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association · 2020Article
- Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases.PLoS genetics · 2020Article
- Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.BMC medical genetics · 2020Article
- Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.American journal of hypertension · 2020Article
- Article
- PTHrP targets HDAC4 and HDAC5 to repress chondrocyte hypertrophy.JCI insight · 2019Article
- Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.Endocrinology and metabolism (Seoul, Korea) · 2018Article
- What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.BMC medical genetics · 2018Article
- Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Journal of clinical research in pediatric endocrinology · 2017Review
- Genetics of Short Stature.Endocrinology and metabolism clinics of North America · 2017Review
- Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.BMJ case reports · 2017Article
- Radiographic assessment of congenital malformations of the upper extremity.Pediatric radiology · 2016Review
- A PDE3A mutation in familial hypertension and brachydactyly syndrome.Journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals.
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