Ann Pediatr Endocrinol Metab.  2021 Sep;26(3):210-214. 10.6065/apem.2040214.107.

Myhre syndrome: the first case in Korea

• Lim D
• Kim JH
• Lee J

• KMID: 2520515
• DOI: http://doi.org/10.6065/apem.2040214.107

Abstract

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.

Keyword

Myhre syndrome; Short stature; Facial dysmorphism

Figure

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  Fig. 1. The patient demonstrated a short neck, blepharophimosis, and prognathism.

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  Fig. 2. Skeletal radiographs. (A, B) Skull x-rays showing thickened calvarium and prognathism. (C) A hand x-ray showing clinodactyly. (D, E) Spinal x-rays showing mild scoliosis and large vertebral pedicles.

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  Fig. 3. Sanger sequencing confirmation of the heterozygous mutation of SMAD4. Mutation of c.1498A>G (p.Ile500Val) in exon 4 of SMAD was found by clinical exome sequencing and confirmed by Sanger sequencing analysis.

Reference

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