Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism

2000 ◽  
Vol 9 (2) ◽  
pp. 111-114 ◽  
Author(s):  
K. Devriendt ◽  
K. Keymolen ◽  
L. Roelen ◽  
G. Van Goethem ◽  
J. Meireleire ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Facial Dysmorphism ◽  
Severe Short Stature

scholarly journals Clinical profiles and genetic spectra of 814 Chinese children with short stature

2021 ◽  
Author(s):  
Xin Li ◽  
Ruen Yao ◽  
Guoying Chang ◽  
Qun Li ◽  
Cui Song ◽  
...  
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Large Scale ◽  
Chromosomal Abnormalities ◽  
Copy Number Variations ◽  
Facial Dysmorphism ◽  
Diagnostic Efficiency ◽  
Pathogenic Genes ◽  
Diagnostic Characteristics ◽  
Severe Short Stature

Abstract Context Data of and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including skeletal dysplasia, severe short stature, and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown. Objectives We aimed to explore the diagnostic efficiency of the associated risk factors and their exome sequences for screening. Design, Settings, and Patients We defined and applied factors that increased the likelihood of monogenic causes of short stature in diagnostic genetic tests based on next-generation sequencing (NGS) in 814 patients with short stature and at least one other factor. Results Pathogenic/likely pathogenic (P/LP) variants in genes, copy number variations (CNVs), and chromosomal abnormalities were identified in 361 patients. We found P/LP variants among 111 genes, and RASopathies comprised the most important etiology. Short stature combined with other phenotypes significantly increased the likelihood of monogenic cause, including skeletal dysplasia, facial dysmorphism, and intellectual disability, compared with simple severe short stature (<–3 standard deviation scores). We report novel candidate pathogenic genes, KMT2C for unequivocal growth hormone insensitivity and GATA6 for SGA. Conclusions Our study identified the diagnostic characteristics of NGS in short stature with different risk factor. Our study provides novel insights into the current understanding of the etiology of short stature in patients with different phenotypes.

scholarly journals X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene

2021 ◽  
Vol 30 (1) ◽  
pp. 61-64
Author(s):  
Fumika Kawano-Matsuda ◽  
Tomoki Maeda ◽  
Tadashi Kaname ◽  
Kumiko Yanagi ◽  
Kenji Ihara
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Novel Mutation ◽  
Severe Short Stature ◽  
I Gene

scholarly journals Branding of subjects affected with genetic syndromes of severe short stature in developing countries

2020 ◽  
Vol 13 (2) ◽  
pp. e231737 ◽  
Author(s):  
Jaime Guevara-Aguirre ◽  
Carolina Guevara ◽  
Alexandra Guevara ◽  
Antonio AWD Gavilanes
Keyword(s):  
Developing Countries ◽  
Mental Retardation ◽  
Medical Care ◽  
Short Stature ◽  
South American ◽  
Genetic Syndromes ◽  
Laron Syndrome ◽  
South American Country ◽  
Genetic Syndrome ◽  
Severe Short Stature

In Ecuador, a developing South American country, subjects affected with genetic syndromes of severe short stature are commonly referred to as dwarfs or midgets. Furthermore, and because in earlier studies some patients had evidenced mental retardation, such abnormality is assumed to exist in all affected subjects. Herein, we present two discrete instances in which this type of branding occurs. The first is that of individuals with Laron syndrome who are still called ‘dwarfs’ and considered as having a degree of mental retardation despite evidence showing otherwise. A similar problem, that of a girl affected with a genetic syndrome of short stature, which might include mental retardation, is also discussed. Considering that stigmatising is a form of discrimination, it concerns us all. Hence, the use of derogatory terms such as midget, dwarf or cretin, that might unintentionally occur even when delivering the best and most devoted medical care, must be eliminated.

Microtia, micrognati, facial dysmorphism, short stature and mental retardation: A rare case with Meirer-Gorlin syndrome

2015 ◽  
Vol 208 ◽  
pp. S86
Author(s):  
Baris Paksoy ◽  
Fatma Silan ◽  
Onur Yildiz ◽  
Ozturk Ozdemir ◽  
Zafer Tuna Tas
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Rare Case ◽  
Facial Dysmorphism ◽  
Gorlin Syndrome

Growth hormone therapy in a child with severe short stature due to Miller-McKusick-Malvaux (3M) syndrome-2

2019 ◽  
Author(s):  
Sumudu Seneviratne ◽  
Deepthi de Silva ◽  
Emily Cottrell ◽  
Piumi Kuruppu ◽  
KSH de Silva ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Therapy ◽  
Short Stature ◽  
Growth Hormone Therapy ◽  
Severe Short Stature

scholarly journals Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nami Mohammadian Khonsari ◽  
Sahar Mohammad Poor Nami ◽  
Benyamin Hakak-Zargar ◽  
Tessa Voth
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Hormone Receptors ◽  
Bone Growth ◽  
Synergistic Effects ◽  
Signs And Symptoms ◽  
Bone Age ◽  
Pathogenic Mutation ◽  
Paracrine Factors ◽  
Severe Short Stature

Abstract Background Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead to Laron syndrome (LS), one of the several disorders that are collectively called growth hormone insensitivity syndrome (GHI). Another example is Floating-Harbor syndrome (FHS), a rare autosomal dominant due to mutations in the SRCAP gene that can also result in short stature. Case presentation We report the case of a 6-year-old female with concomitant mutations in the three genes mentioned above. The mutations reported here were found on genetic studies and are usually benign, causing a variant of undetermined significance. However, our patient’s phenotype could only be explained by the compounded effects of pathogenic mutations of these genes. Some of the same mutations were also found in the patient’s father and her paternal grandfather. Both also presented with short stature, though not to the same degree as our patient. While these mutations are often reported to be insignificant, they gave rise to severe short stature and a specific phenotype in the patient when presented together. We think that even though the GHI spectrum is inherited through an autosomal recessive pattern, the sum of these heterozygous mutations resulted in severe short stature despite the limited GHI seen in our patient, the father, and the grandfather, through a rare ACAN and SRCAP mutation that, to our knowledge, has not been previously reported as a pathogenic mutation in the literature. Conclusion We investigated the possible synergistic effects of these variations on exacerbation or masking of the signs and symptoms of GHI with the hope of providing a better understanding of these genes and their function through our rare case.

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