Table 1.
Major Clinical Findings in Four Individuals with Penttinen Syndrome as Compared to Clinical Findings in Three Distinct Disorders Caused by Mutations in PDGFRB
| Age (at last evaluation) |
Individual 1 (Penttinen et al., 1997) |
Individual 2 (Zufferey et al., 2013) |
Individual 3 |
Individual 4 |
Penttinen Syndrome |
Kosaki Syndrome (Takenouchi et al., 2015) |
Infantile Myofibromatosis |
Idiopathic Basal Ganglia Calcification |
|---|---|---|---|---|---|---|---|---|
| 29 years | 15 years | 7 years | 14 years | NA | 14 years, 17 yearsa | NA | NA | |
| Craniofacial | ||||||||
| Open fontanelles | + | + | − | + | + | − | − | − |
| Shallow orbits | + | + | + | + | + | − | − | − |
| Narrow nose | + | − | + | + | + | − | − | − |
| Underdeveloped cheekbones | + | + | + | + | + | − | − | − |
| Delayed eruption of teeth | + | + | + | + | + | NS | − | − |
| Ophthalmologic | ||||||||
| Microphthalmia | + | NS | NS | NS | + (?) | NS | − | − |
| Corneal abnorm | + | NS | NS | NS | + (?) | NS | − | − |
| Dermatologic | ||||||||
| Thin, translucent skin with prominent venous patterning | + | + | + | + | + | + | − | − |
| Lipoatrophy | + | + | + | + | + | − | − | − |
| Hyperkeratotic lesions | + | + | + | + | + | − | − | − |
| Sparse hair | + | + | + | + | + | − | − | − |
| Skeletal | ||||||||
| Acro-osteolysis | + | + | + | + | + | − | − | − |
| Short fingers | + | + | + | + | + | − | − | − |
| Contractures | + (fingers, toes) | + (fingers) | + (fingers) | + (fingers) | + (fingers, toes) | − | − | − |
| Osteopenia | + | + | + | + | + | − | − | − |
| Thin bones | + | + | + | + | + | − | − | − |
| Scoliosis | + | − | − | − | −/+ | + | − | − |
| Skull | thin calvarium | wormian bones | thin calvarium | thin calvarium | thin calvarium | diffuse granular pattern | − | − |
| Neurological | ||||||||
| Cognitive ability | Nl | Nl | DD | NI | NI | NI, DD | NI | Abnl |
| Hearing loss | B SNHL | − | − | − | − | NA | − | − |
| Brain malformation | mega cisterna magna, other | cortical and cerebellar atrophy | posterior fossa cyst | NA | +/− | extensive periventricular white matter lesions | − | basal ganglia calcifications |
| Other | ||||||||
| Thyroid abnorm | hypothyroid | NS | NS | NS | + (?) | NS | − | − |
| Hyperextensible | + | + | + | + | + | − | − | − |
| Distinguishing Features of PDGFRB Disorders Other than Penttinen Syndrome | ||||||||
| Overgrowth | − | − | − | − | − | + | − | − |
| Myofibromas | − | − | − | − | − | + | + | − |
| Basal ganglia calcifications | − | − | − | − | − | − | − | + |
Abbreviations are as follows: +, positive for; −, negative for; Abnl, abnormal intelligence; NI, normal intelligence; DD, developmental delay; NA, not applicable; NS, not assessed; B SNHL, bilateral sensorineural hearing loss; (?), not enough information to be certain.
a
Only two individuals have been described with this condition and these are their ages.