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.

Triangular face

Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.


Total: 4

                       


(per page)
PMID (PMCID)
24075556
 FEMALE Adult
Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome.
Ryan TD, Gupta A, Gupta D, Goldenberg P, Taylor MD, Lorts A, Jefferies JL.
Cardiovasc Pathol. 2014;23(1):21-7.
Russell-Silver Syndrome (RSS) is a genetically determined condition characterized by severe intrauterine and postnatal growth retardation; relative macrocephaly; a small, triangular face; and fifth-finger clinodactyly.
23198234
(3502816)
 OTHER
Torticollis as the main presentation in a child with russell-silver syndrome: a case report.
Javadzadeh M, Saneifard H, Hosseini AH.
Case Rep Pediatr. 2012;2012:109416.
We report a case of Russell-Silver syndrome with intrauterine and postnatal growth retardation, triangular face, and body asymmetry, in addition to torticollis as a novel manifestation.
8533797
 MIXED_SAMPLE Infant, Newborn
Monozygotic twins discordant for the Russell-Silver syndrome.
Bailey W, Popovich B, Jones KL.
Am J Med Genet. 1995;58(2):101-5.
Russell-Silver syndrome (RSS) is a pattern of malformation characterized by intrauterine and postnatal growth retardation, limb asymmetry, triangular face, and hypospadias.
7507296
 MALE Infant
Dup(1q)(q42-->qter) syndrome: case report and review of literature.
Kennerknecht I, Barbi G, Rodens K.
Am J Med Genet. 1993;47(8):1157-60.
However, individuals with dup(1q), del(15q), and Russell-Silver syndrome share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, micrognathia, renal anomalies.