Autosomal dominant spastic paraplegia type 17

A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.

Growth delay

A deficiency or slowing down of growth pre- and postnatally.


Total: 1

                       


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PMID (PMCID)
4040173
 MIXED_SAMPLE
Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.
Wilson GN, Sauder SE, Bush M, Beitins IZ.
J Med Genet. 1985;22(3):233-6.
A male child with features of the Russell-Silver syndrome, including pre- and postnatal growth delay, triangular facies, bilateral fifth finger clinodactyly, and disproportionate lower extremities, was found to have a ring chromosome 15 in all peripheral leucocytes examined.