Camptodactyly in Sotos syndrome.

We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.

A Case of Weaver Syndrome / 소아과

Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations were macrocephaly, unusal facies, simian crease, clinodactyly, decreased muscle tone, accelerated bone age and congenital heart diseases. We report this with a brief review of related literature.

A Case of Weaver Syndrome with Alternating Exotropia

PURPOSE: We report a first case of Weaver syndrome in Korea, accompanied by alternating exotropia and visual disturbance. METHODS: An 11-month-old girl showed the characteristic symptoms of Weaver syndrome along with alternating exotropia and visual disturbance. RESULTS: Ophthalmologic findings included alternating exotropia, hypertelorism, down-slanting palpebral fissure, and telecanthus. The angle of exotropia according to the Krimsky's test was 60 prism diopters. No limitation of extraocular movement was present. Visual acuity of both eyes showed poor following fixation. According to brain MRI, immature myelination of the anterior limb of the internal capsule, contracture and sclerotic changes of the optic canal and superior oblique fissure were present. Both optical nerves ran abnormally crooked. CONCLUSIONS: The author experienced a child with Weaver syndrome who showed alternating exotropia, visual disturbance, and characteristic findings according to brain MRI. Thus, we report one case of Weaver syndrome never been reported in Korea with the literature study.