Clinical and molecular diagnosis of a cartilage‐hair hypoplasia with IGF‐1 deficiency

Cartilage‐hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15‐year‐old Mexican male initiall...

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Published inAmerican journal of medical genetics. Part A Vol. 173; no. 2; pp. 537 - 540
Main Authors Castilla‐Cortázar, Inma, Rodríguez De Ita, Julieta, Martín‐Estal, Irene, Castorena, Fabiola, Aguirre, Gabriel A., García de la Garza, Rocío, Elizondo, Martha I.
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.02.2017
John Wiley and Sons Inc
Subjects
Adolescent
Biomarkers
Cartilage-hair hypoplasia
Chondrodystrophy
Clinical Report
Clinical Reports
Genetic Association Studies
Genetic Testing
Genotype
GHR
Hair - abnormalities
Hirschsprung Disease - diagnosis
Hirschsprung Disease - genetics
Hirschsprung's disease
Humans
IGF‐1
Immune response
Immunodeficiency
Immunologic Deficiency Syndromes - diagnosis
Immunologic Deficiency Syndromes - genetics
Insulin-Like Growth Factor I - deficiency
Insulin-Like Growth Factor I - genetics
Insulin-like growth factors
Janus Kinase 2 - genetics
Male
Osteochondrodysplasias - congenital
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - genetics
Phenotype
Physical Examination
Polymorphism, Single Nucleotide
Primary Immunodeficiency Diseases
Radiography
RMRP gene
GHR
RMRP gene
IGF-1
cartilage-hair hypoplasia
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Summary:Cartilage‐hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15‐year‐old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF‐1 deficiency. For this reason, we propose IGF‐1 replacement therapy for its well‐known actions on hematopoiesis, immune function and maturation, and metabolism. © 2016 Wiley Periodicals, Inc.
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Written informed consent was obtained from the patient for publication of this case report and accompanying images.
Conflict of interest: The authors have no conflicts of interest relevant to this article to disclose.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.38052