Joint Laxity, Short Stature, and Myopia

Clinical Characteristics

Ocular Features:

Three of four brothers in one family had high myopia and two had retinal detachments as well as iris and chorioretinal colobomas. In a second family with five sibs a teenage female was reported to have glaucoma and vision of legal blindness. She and one brother had high myopia as well (parameters not reported).

Systemic Features:

In one consanguineous family a brother and sister had multiple large joint dislocations including elbows, hips, knees and ankles. The sister exhibited severe kyphoscoliosis while her brother had only mild kyphosis. A single individual in each of the two sibships had hearing loss.

Three brothers in another consanguineous family had joint laxity and mild pectus carinatum.

Short stature was noted in all 5 affected individuals. Cognitive development was reported as normal.

Genetics

Five individuals from 2 consanguineous Saudi sibships have been reported. Homozygous mutations in the GZF1 [1] gene (20p11.21) segregated as expected for an autosomal recessive disorder.

Treatment

Treatment Options:

No treatment has been reported. Retinal detachment surgery and joint dislocation reduction should be considered in appropriate individuals.

References

Article Title:

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome [2]

Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS. GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. Am J Hum Genet. 2017 May 4;100(5):831-836.

PubMed ID:

28475863