Table 2 Main features and molecular characterization of 16 Malan syndrome patients
Patients | Priolo 2018 | Present report | Present report | Priolo 2012 | Gurrieri 2015 | Present report | Gurrieri 2015 | Present report | Gurrieri 2015 | Present report | Priolo 2018 | Present report | Priolo 2018 | Present report | Present report | Present report | Total N = 16 (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | ||
Main features of our cohort of Malan syndrome patients and molecular characterization | |||||||||||||||||
Nationality | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | Italian | |
Sex | M | M | M | F | M | F | F | M | F | F | F | M | M | F | M | M | 9 M and 7 F |
Age (in years) | 12.5 | 8.2 | 14.6 | 20.2 | 17.2 | 25.6 | 9.9 | 8.4 | 8.5 | 3.7 | 16.1 | 14.2 | 7.1 | 18.5 | 17.2 | 7.4 | 13.4 median |
Auxologic | |||||||||||||||||
BMI (Kg/m2) at last examination | 18.5 | 13.5 | 15 | 20.5 | 22.5 | 20.5 | 15.8 | 17.0 | 12.0 | 15.9 | 22.3 | 16.5 | 13.2 | 17.4 | 16.0 | 18.6 | 17.5 median |
Prenatal growth | |||||||||||||||||
Weight > 2SDS | + | − | − | + | − | − | − | − | − | − | − | − | − | − | − | − | 2 (13%) |
Length > 2SDS | + | − | − | + | − | − | − | + | − | − | − | − | − | − | − | + | 4 (25%) |
OFC > 2SDS | + | − | + | + | − | − | − | + | + | − | − | − | + | + | + | + | 9 (56%) |
Postnatal growth | |||||||||||||||||
Length > 2SDS | + | − | − | + | + | − | + | − | + | − | − | − | − | + | + | − | 7 (44%) |
OFC > 2SDS | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 16 (100%) |
Neurological | |||||||||||||||||
Neonatal hypotonia | − | + | − | + | + | − | − | + | − | + | + | + | − | + | − | − | 8 (50%) |
Intellectual disability | + | ++ | + | + | + | + | ++ | ++ | ++ | DD | + | ++ | + | + | ++ | + | 16 (100%) |
Epilepsy | − | − | − | − | − | − | − | − | − | − | − | − | − | + | − | + | 2 (13%) |
Unspecific isolated EEG anomalies | + | − | + | + | + | + | − | + | − | − | + | − | − | − | + | − | 8 (50%) |
Behavioral anomalies* | + | + | − | + | + | + | + | + | + | + | + | + | + | + | + | + | 15 (94%) |
Noise sensitivity | + | + | − | + | + | + | + | + | − | + | + | + | − | + | + | + | 13 (81%) |
Others (EA, D, NV, PF, WG) | PF, NV | − | − | − | − | − | WG | − | − | − | − | − | − | − | EA | − | 3 (19%) |
Brain MRI | |||||||||||||||||
Wide ventricles | + | − | − | − | − | + | + | − | + | − | + | − | + | + | − | + | 8 (50%) |
Hypoplastic corpus callosum | − | − | − | + | − | − | + | + | + | − | − | + | − | + | + | + | 8 (50%) |
Brain atrophy | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | 0 (0%) |
Chiari malformation type 1 | + | + | − | − | − | − | − | + | − | − | + | − | + | − | − | + | 6 (38%) |
Ophthalmological | |||||||||||||||||
Refractive disorders M, H, A | M | − | H | M | M | M, A | M | H, A | − | − | M | H | H | M, A | M | M | 13 (81%) |
Esotropia | + | − | + | − | − | + | + | − | − | − | + | + | + | − | + | + | 9 (56%) |
Strabismus | − | − | + | + | + | − | − | + | − | + | − | + | + | + | + | + | 10 (63%) |
Nystagmus | − | − | + | + | − | − | − | + | − | − | − | − | + | − | − | + | 5 (31%) |
Blue sclerae | + | − | − | + | + | + | + | − | + | + | + | − | + | + | − | + | 11 (69%) |
Polar cataract | + | − | − | − | + | − | − | − | − | − | − | − | − | − | − | − | 2 (13%) |
Optic nerve hypoplasia | − | − | − | + | + | − | + | − | + | − | − | − | − | − | − | − | 4 (25%) |
Optic disk pallor | + | − | − | + | − | − | + | − | + | − | − | − | − | − | − | − | 4 (25%) |
Musculoskeletal | |||||||||||||||||
Slender habitus | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 16 (100%) |
Ligamentous hyperlaxity | − | − | − | + | + | − | − | − | − | − | − | − | − | + | − | − | 3 (19%) |
Long hands | + | − | − | + | + | + | + | − | + | + | − | + | − | + | + | − | 10 (63%) |
Hyper-kyphosis | − | − | − | − | + | − | − | − | − | − | − | − | + | − | − | + | 3 (19%) |
Hyper-lordosis | − | − | − | − | − | + | − | + | − | − | − | − | − | − | + | − | 2 (13%) |
Scoliosis | + | − | + | + | − | + | − | + | − | − | + | + | − | + | + | − | 9 (56%) |
Pectus excavatum/carinatum/both | ± | −/− | −/+ | ± | −/− | ± | ± | −/− | ± | ± | −/− | −/− | ± | −/− | ± | +/+ | 8 (50%) Exc, 1 (6%) Car, 1 (6%) Mix |
Pes Planus | + | + | − | + | + | + | − | + | − | + | − | + | + | + | − | + | 11 (69%) |
Diaphyseal bones fractures | − | − | − | + | − | + | − | + | − | − | − | − | − | + | + | − | 5 (31%) |
DXA | − | − | − | + | − | − | − | − | − | − | − | − | + | − | − | − | 2 (13%) |
Cardiovascular | |||||||||||||||||
Aortic root dilatation | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | 0 (0%) |
Mitral valve regurgitation | − | − | + | − | + | − | − | − | − | − | + | − | − | + | + | − | 5 (31%) |
Gastrointestinal | |||||||||||||||||
Hepatomegaly | + | − | − | − | − | − | − | − | − | − | + | − | + | − | − | + | 4 (25%) |
Constipation | + | + | − | − | − | − | + | + | − | + | − | + | + | − | − | + | 8 (50%) |
Orodental | |||||||||||||||||
Malocclusion | − | − | + | + | − | + | − | − | + | − | − | + | − | − | + | + | 7 (44%) |
Ogival palate/overcrowded teeth | + | − | − | + | + | + | − | − | − | − | − | + | + | + | + | + | 9 (56%) |
Caries | − | − | − | + | − | + | + | − | + | − | − | − | + | − | − | + | 6 (38%) |
Oral apraxia/hypersalivation | − | + | − | + | − | − | − | + | + | − | − | − | + | − | − | − | 5 (31%) |
Cancer | − | − | − | − | − | − | − | + (WT) | − | − | − | − | − | − | − | − | 1 (6%) |
ART | + | − | − | − | − | − | − | − | − | − | − | − | − | + | − | − | 2 (13%) |