Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

Show other versions (1)

Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and man...

Full description

Bibliographic Details
Main Author:	Kobra Shiasi Arani
Format:	Article
Language:	English
Published:	Mazandaran University of Medical Sciences 2015-01-01
Series:	Journal of Pediatrics Review
Subjects:	Cartilage Hair Hypoplasia Hirschsprung Disease Immunologic Deficiency Syndromes Osteochondrodysplasias
Online Access:	http://jpediatricsreview.com/en/articles/194.html

Similar Items

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review
by: Kobra Shiasi Arani
Published: (2015-01-01)

Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls
by: Heidi Arponen, et al.
Published: (2021-12-01)

Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study
by: Elina Holopainen, et al.
Published: (2020-11-01)

Novel Mutation in Boy With Cartilage-hair Hypoplasia
by: I-Chun Lin, et al.
Published: (2010-12-01)

Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study
by: Heidi Arponen, et al.
Published: (2023-06-01)

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
by: Heidi Arponen, et al.
Published: (2024-04-01)

Rare case of nephrotic syndrome: Schimke syndrome
by: Anna Kelly Krislane de Vasconcelos Pedrosa, et al.

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
by: Giovanni Del Borrello, et al.
Published: (2022-05-01)

Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts
by: Alzbeta Chabronova, et al.
Published: (2021-12-01)

Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings
by: Siham Al-Sinani, et al.
Published: (2015-03-01)

A family of Melnick-Needles syndrome: a case report
by: Chi Hoon Oh, et al.
Published: (2020-08-01)

Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome
by: İsmihan Selen Onan, et al.
Published: (2017-12-01)

Pseudoachondroplasia: A case report
by: Radlović Vladimir, et al.
Published: (2013-01-01)

Spinal anesthesia in a patient with Schwartz–Jampel syndrome
by: Osama Shaalan, et al.
Published: (2020-07-01)

An Alternative Treatment Option for Blauth III B Thumb Hypoplasia—Thumb Stabilization with Iliac Crest Bone Graft and Intermetacarpal Arthrodesis
by: Simon Oeckenpöhler, et al.
Published: (2023-09-01)

Nasal correction in nasomaxillary hypoplasia (Binder’s syndrome): An optimised classification and treatment
by: Venkata Ramana Yamani, et al.
Published: (2016-09-01)

Two Cases of Foveal Hypoplasia with Different Etiologies
by: Abdullah Ozkaya, et al.
Published: (2017-12-01)

Rhinoplasty in a Patient with Nasal Bone Hypoplasia: A Case Report
by: Farrokh Savaddar, et al.
Published: (2019-02-01)

Hypoplasia of the aortic arch
by: Ю. С. Синельников, et al.
Published: (2015-10-01)

INTERCULTURAL HEALTH MEDIATORS IN THE CASE OF ENAMEL DYSPLASIA VS ENAMEL HYPOPLASIA IN CHILDREN
by: Loredana MITARIU, et al.
Published: (2021-07-01)

A case report of focal dermal hypoplasia-Goltz syndrome
by: Sheela Bharani, et al.
Published: (2013-01-01)

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up
by: Alessandra Mattiucci, et al.
Published: (2023-03-01)

Focal dermal hypoplasia (Goltz Syndrome): A cross-sectionalstudy from Eastern India
by: Sudip Kumar Ghosh, et al.
Published: (2017-01-01)

Variable clinical profile of foveal hypoplasia in albinism
by: Kshitiz Kumar, et al.
Published: (2020-01-01)

Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia
by: Tatiana Pineda, et al.
Published: (2013-07-01)

Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant
by: Yu Jin Jung
Published: (2018-06-01)

Focal dermal hypoplasia: A rare case report
by: Sahana M Srinivas, et al.
Published: (2015-01-01)

Becker nevus syndrome presented with ipsilateral breast hypoplasia
by: Suzan Demir Pektas, et al.
Published: (2014-01-01)

Focal dermal hypoplasia: Unusual presentation in Saudi Arabia
by: Awadh Alamri, et al.
Published: (2016-01-01)

Occipital Headache Associated with C1 Hypoplasia
by: Selman Kök, et al.
Published: (2021-09-01)

An Epilepsy Case With Severe Cerebellar Hypoplasia and Schizencephaly
by: Yüksel Kaplan, et al.
Published: (2008-02-01)

An Extensive and Bilateral Becker Naevus With Breast Hypoplasia
by: H Hadji Hosseini, et al.
Published: (2008-07-01)

Brainstem hypoplasia presenting with mirror movement
by: Burcu Ekmekçi, et al.
Published: (2015-09-01)

Classification of congenital thumb hypoplasia and deformity
by: Wei Wang, et al.
Published: (2021-12-01)

Surgical reconstruction of congenital thumb hypoplasia
by: Michael Tonkin
Published: (2011-01-01)

Modified technique for uncommon coarctation of the aorta with arch hypoplasia
by: Brijesh Parayaru Kottayil, et al.
Published: (2018-01-01)

Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia
by: Alexandre Nguyen, et al.
Published: (2018-04-01)

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
by: Mutaz Amin, et al.
Published: (2022-06-01)

Frequency of skeletal dysplasia in children with short stature presenting to endocrine clinic: An observational study
by: Seema, et al.
Published: (2022-01-01)

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
by: Qi Yang, et al.
Published: (2020-03-01)