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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Atypical presentations of Shwachman-Diamond syndro ...
Atypical presentations of Shwachman-Diamond syndrome diagnosed by whole exome sequencing and literature reivew
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This study highlights a case of atypical presentations of Shwachman-Diamond syndrome (SDS) diagnosed using whole exome sequencing. The patient is a 10-year-old female with a history of failure to thrive, short stature, global developmental delay, and growth hormone deficiency. She also had bilateral coxa vara, which led to her referral to Genetics for evaluation of a skeletal dysplasia.<br /><br />The patient's prenatal history was complicated by maternal gestational diabetes, pre-conceptional hypertension, and possibly cholestasis of pregnancy. Whole exome sequencing of the patient and her mother detected compound heterozygosity for pathogenic variants in the SBDS gene, confirming the diagnosis of SDS.<br /><br />SDS is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, bone marrow failure, and leukemia predisposition. It can also affect other systems such as skeletal, immunologic, hepatic, and renal. However, there is no consistent endocrine phenotype observed in affected individuals.<br /><br />While neutropenia and steatorrhea are classic features of SDS, clinical variability has been reported. Short stature is relatively common, but endocrine dysfunction is not consistent. Growth hormone deficiency with pituitary hypoplasia, as seen in this case, is rare.<br /><br />The authors emphasize that short stature with growth deficiency, along with other features like coxa vara, developmental delay, and learning disabilities, should raise suspicion for SDS, even in the absence of the cardinal features. Whole exome sequencing is a powerful diagnostic tool for SDS.<br /><br />In conclusion, this study presents a case of atypical presentations of SDS diagnosed using whole exome sequencing. It highlights the variable clinical phenotype and natural history of SDS and emphasizes the importance of considering SDS in individuals with short stature and growth deficiency.
Asset Subtitle
Presenting Author - Hua Wang, M.D., Ph.D; Co-Author - Subhadra Ramanathan, MS, MSGC;
Meta Tag
Bone/Joint Abnormalities
Exome sequencing
Phenotype
Co-Author
Subhadra Ramanathan, MS, MSGC
Presenting Author
Hua Wang, M.D., Ph.D
Keywords
Shwachman-Diamond syndrome
SDS
atypical presentations
whole exome sequencing
short stature
global developmental delay
growth hormone deficiency
bilateral coxa vara
skeletal dysplasia
diagnostic tool
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