Table 1 summary of the important clinical features of the patients. All clinical features are compared to the different types of Warburg Micro Syndrome (WARBM) and Martsolf syndrome
Group | Subgroup | Clinical Feature | III.1 | III.4 | WARBM1 | WARBM2 | WARBM3 | WARBM4 | Martsolf syndrome |
|---|---|---|---|---|---|---|---|---|---|
aGe at examination | Age (year) | – | 5 | 4.5 | – | – | – | – | – |
Intellectual disabilitya | – | – | STP | STP | STP | S | STP | S | MTS |
Growth | Height | Short stature | NR | NR | + | + | + | + | + |
Height less than 5th percentile | – | – | + | + | + | + | + | ||
postnatal growth retardation | + | + | + | + | + | + | – | ||
Weight | abnormal Weight | – | – | – | – | – | – | + | |
Head & neck | Head | Brachycephaly | – | – | – | + | + | + | + |
Microcephaly | + | + | + | + | + | + | + | ||
Face | Micrognathia | + | + | + | – | + | – | + | |
Abnormal philtrum | + | + | – | – | + | – | + | ||
Ears | Prominent antitragus | + | + | – | – | – | – | + | |
Posteriorly rotated ears | – | – | – | – | – | – | + | ||
Large ears | + | + | + | + | + | + | – | ||
Eyes | Cataracts | + | + | + | + | + | + | + | |
Epicanthal folds | – | – | – | – | – | – | + | ||
Downslanting palpebral fissures | – | – | – | – | – | – | + | ||
Microphthalmia | + | + | + | + | + | + | – | ||
Microcornea | NR | NR | + | + | + | + | – | ||
Optic atrophy | + | + | + | + | – | – | – | ||
Ptosis | + | + | + | – | – | + | – | ||
Deep-set eyes | – | – | + | – | – | + | – | ||
Atonic pupils | – | – | – | + | + | – | – | ||
Nystagmus | – | – | – | – | + | – | – | ||
Nose | Short-nose | + | + | – | + | + | – | – | |
prominent nasal root | + | + | – | + | + | + | – | ||
Wide nasal bridge | – | + | – | – | – | + | – | ||
Mouth | High palate | – | – | – | – | – | – | + | |
Downturned corners of the mouth | – | + | – | – | + | – | – | ||
soft cleft palate | – | + | + | – | – | – | – | ||
Teeth | Malaligned teeth | – | + | – | – | – | – | + | |
Prominent secondary alveolar ridges | – | – | – | – | + | – | – | ||
Cardiovascular | Heart | Cardiomyopathy | – | – | – | – | – | – | + |
Cardiac Failure | – | – | – | – | – | – | + | ||
Respiratory | Infection | Recurrent respiratory infections | – | – | – | – | – | – | + |
Airway | Tracheomalacia | – | – | – | – | – | – | + | |
Chest | Breasts | Prominent nipples | – | – | – | – | – | – | + |
Widely spaced nipples | – | – | – | – | + | – | – | ||
Ribs | Pectus carinatum/ excavatum | – | – | – | – | – | – | + | |
Abdomen | Gastrointestinal | Feeding problems | NR | NR | – | – | – | – | + |
Genitourinary | Male | Small penis | ND | + | + | – | – | – | + |
Hypogenitalism | + | + | + | + | + | + | – | ||
Scrotal hypoplasia/ Small testes | ND | + | – | + | + | – | – | ||
Cryptorchidism | ND | + | + | – | – | + | + | ||
Female | Hypoplasia of labia majora | + | – | – | + | + | – | – | |
Skeletal | Limbs | Contractures | – | – | – | + | + | + | – |
Distal limb contractures | – | – | – | – | + | – | – | ||
Joint hypermobility | – | – | + | – | – | – | – | ||
Hands | Finger joint laxity | – | – | – | – | – | – | + | |
Joint hypermobility | – | – | + | – | – | – | – | ||
Cortical thumbs | + | – | – | – | + | – | – | ||
Feet | Deformities of metatarsal bones | – | – | + | – | – | – | – | |
Overlapping toes | + | + | + | + | – | – | – | ||
Skin, nails, & hair | Nails | Abnormal nails | – | – | – | – | – | – | + |
Hair | Facial hypertrichosis | + | + | + | – | – | – | – | |
Low anterior hairline | + | + | – | + | + | + | – | ||
Hypertrichosis of upper back | + | + | – | – | + | – | – | ||
Neurologic | Central and peripheral Nervous Systems | Severe intellectual disability | + | + | + | + | + | + | + |
Truncal hypotonia | NR | NR | – | – | + | – | – | ||
Hyperreflexia | NR | NR | + | – | – | – | – | ||
Limbs hypotonia | + | + | + | – | – | – | – | ||
Axial hypotonia | + | + | – | + | – | + | – | ||
White matter signal changes | + | + | – | – | – | – | – | ||
Spastic diplegia to quadriplegia | + | + | – | + | + | + | – | ||
Increased deep tendon responses | – | – | – | – | + | – | – | ||
Ankle clonus | – | – | – | – | + | – | – | ||
Neuroimaging Findings | Cerebral malformations | + | + | + | – | – | + | – | |
Hypoplasia of the corpus callosum | – | + | + | + | + | + | – | ||
Agenesis of the corpus callosum | + | – | + | + | – | – | – | ||
Cerebellar hypoplasia | + | + | + | – | – | + | – | ||
Wide Sylvian fissures | + | + | – | + | – | – | – | ||
Increased subdural space | + | + | – | + | – | – | – | ||
Enlarged ventricles | + | + | – | – | + | + | – | ||
Pachygyria | + | + | + | – | – | – | |||
Polymicrogyria | – | – | – | + | + | + | – | ||
Mega cisterna Magna | – | – | – | – | – | + | – |