Abstract
Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by mental retardation, short stature, muscle hypertrophy, limitation of joints movements, deafness, skeletal anomalies, and facial dysmorphism. Ophthalmological involvement includes hypermetropia and congenital cataract. We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with Myhre syndrome. The patient with retinitis pigmentosa carried the p.I500T mutation in SMAD4, but no mutation was found in the patient with the maculopathy.
Copyright © 2012. Published by Elsevier Masson SAS.
MeSH terms
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Adult
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Child
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Cryptorchidism / complications*
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Cryptorchidism / diagnosis
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Cryptorchidism / genetics
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Facies
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Female
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Growth Disorders / complications*
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Growth Disorders / diagnosis
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Growth Disorders / genetics
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Hand Deformities, Congenital / complications*
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Hand Deformities, Congenital / diagnosis
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Hand Deformities, Congenital / genetics
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Humans
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Hypertrophy / complications*
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Hypertrophy / diagnosis
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Hypertrophy / genetics
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Intellectual Disability / complications*
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics
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Joint Diseases / complications*
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Joint Diseases / diagnosis
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Joint Diseases / genetics
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Macula Lutea / pathology
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Male
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Mutation, Missense
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Retinitis Pigmentosa / diagnosis
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Retinitis Pigmentosa / etiology
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Retinitis Pigmentosa / genetics*
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Smad4 Protein / genetics
Substances
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SMAD4 protein, human
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Smad4 Protein
Supplementary concepts
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Growth mental deficiency syndrome of Myhre