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Several conditions characterised by short fingers, reduced joint mobility, short stature, and muscular build with or without mental retardation have been delineated during the past 30 years: Moore-Federman syndrome, Myhre syndrome, acromicric dysplasia, geleophysic dysplasia, GOMBO syndrome, and LAPS (Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature) syndrome. In 1980 Myhre et al1 reported two unrelated males with mental retardation, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism, short philtrum, small mouth), short stature, brachydactyly, muscle hypertrophy, decreased joint mobility, mixed hearing loss, and cleft lip and palate in one of them. X rays showed a thickened calvarium, hypoplastic iliac wings, broad ribs, and large, flattened vertebrae with large pedicles. Five further cases were reported. Mental retardation of variable severity was present in all patients. Three of the older patients had hypertension.
We report here four new unrelated patients who fit a diagnosis of Myhre syndrome, expanding the behavioural profile of the disorder, and discuss the differential diagnosis.
Patient 1, a male, was the second child of healthy, non-consanguineous parents. The father was 181 cm tall and the mother was 165 cm tall. They were aged 40 and 34 years, respectively, at time of delivery. Birth weight was 2130 g, length 44.5 cm, and OFC 36 cm at 36 weeks’ of gestation based on LMP (40 weeks based on morphological score of maturity). Recurrent hypoglycaemia requiring glucose infusion was recorded during the first weeks. Psychomotor development was normal, but dysarthria required long term speech therapy. He had bilateral deafness, with loss of 40 dB in low frequencies to 20 dB on the right side, and from 60 dB to 35 dB on the left side. MRI and CT showed bilateral dysplasia of the external semicircular canal. The stapedial footplate was bilaterally thick and, on the right side, fused with the …