Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Elejalde syndrome: a case report

C M Thornton¹, F Stewart

¹Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland.

American Journal of Medical Genetics

|April 14, 1997

Summary

This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Heavy grazing of buffel grass pasture in the Brigalow Belt bioregion of Queensland, Australia, more than tripled runoff and exports of total suspended solids compared to conservative grazing.

Marine pollution bulletin·2021

Same author

Development of innovative simulation teaching for advanced general practice clinical pharmacists.

International journal of clinical pharmacy·2021

Same author

A systematic review of UK-based long-term nonsurgical interventions for people with severe obesity (BMI ≥35 kg m<sup>-2</sup> ).

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association·2020

Same author

Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre's experience.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2018

Same author

Assessment and validation of a novel angiographic scoring system for peripheral artery disease.

The British journal of surgery·2017

Same author

The change in position of the sciatic nerve during the posterior approach to the hip.

The bone & joint journal·2015

Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003

Same journal

Defects of blastogenesis.

American journal of medical genetics·2002

Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002

See all related articles

Elejalde syndrome is a rare genetic disorder characterized by specific congenital anomalies. This report details a liveborn infant diagnosed with this condition, contributing to understanding its presentation.

Area of Science:

Genetics
Pediatrics
Medical Genetics

Background:

Elejalde syndrome, also known as acrocephalopolydactylous dysplasia, is a rare autosomal recessive disorder.
Characterized by a distinct set of congenital anomalies affecting multiple organ systems.

Observation:

The case involves a liveborn infant presenting with the hallmark features of Elejalde syndrome.
Clinical observations included high birth weight, swollen globular body, short neck with redundant skin folds, postaxial polydactyly, omphalocele, and organomegaly.

Findings:

The infant exhibited enlarged liver and kidneys, consistent with the described syndrome.
Renal dysplasia was a significant finding, indicating potential long-term renal complications.

Implications:

Related Experiment Videos

This case report expands the clinical understanding and documentation of Elejalde syndrome.
Further research into the genetic basis and long-term prognosis of Elejalde syndrome is warranted.