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- paediatric radiology
- clinical genetics
- metabolic disorders
- molecular genetics
- mitochondrial disorders
Recently, Tompson et al1 described the use of autozygosity mapping and expression studies to identify compound heterozygous mutations (c.2386G>C/c.3943G>T; c.1786dupG/c.3124G>A) in the COL11A1 gene in two unrelated patients as a cause of fibrochondrogenesis (MIM 228520). They concluded that fibrochondrogenesis, a short-limbed skeletal dysplasia, represents the most severe end of a spectrum of disorders caused by a COL11A1 defect to date.1 Subsequently, dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2, were described.2 Mutations in these two genes along with COL2A1 were previously reported to cause autosomal dominant forms of Stickler (MIM 604841) and Marshall syndromes (MIM 154780).3–5 COL9A1 and COL9A2 defects, on the other hand, were identified as causing forms of Stickler syndrome with an autosomal recessive inheritance pattern.6 7 Here we report the first evidence that adds COL11A1 defect as a cause of Marshall syndrome with a recessive mode of inheritance.
The proband is a Saudi boy born at term after an uneventful pregnancy to consanguineous parents. He was referred to us at the age of 16 months because of mild motor, speech delay, and dysmorphic facial features (figure 1 A,B). He had ocular hypertelorism with midface hypoplasia and a broad, flat nasal bridge, anteverted nares, and long philtrum. He also had sparse lusterless scalp hair. He had normal palate, teeth, nails, and skin with normal hidrosis. Ophthalmological examination showed progressive high myopia (−12 Diopters), iridodenesis and subluxation of lenses nasally with loss of zonules temporally resulting …
Competing interests None.
Patient consent Obtained.
Ethics approval The ethics approval was provided by the Research Advisory Council at King Faisal Specialist Hospital and Research Centre, Saudi Arabia.
Provenance and peer review Not commissioned; externally peer reviewed.
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