Myhre syndrome: the first case in Korea
| Autor: | Jieun Lee, Dongjin Lim, Jae Hyun Kim |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty business.industry Endocrinology Diabetes and Metabolism Selective mutism Case Report facial dysmorphism medicine.disease Short stature RJ1-570 short stature Facial dysmorphism myhre syndrome Pediatrics Perinatology and Child Health Intellectual disability Medicine Precocious puberty Small for gestational age medicine.symptom Myhre syndrome smad4 business Exome sequencing |
| Zdroj: | Annals of Pediatric Endocrinology & Metabolism, Vol 26, Iss 3, Pp 210-214 (2021) Annals of Pediatric Endocrinology & Metabolism |
| ISSN: | 2287-1292 2287-1012 |
| Popis: | Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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