| Our patient | TRPS Ia | OCNDSa |
---|---|---|---|
Growth/Height | Short stature (− 5.8 s.d.) | Short stature Normal birth length | Failure to thrive (in some patients) |
Face, ears, eyes, nose, mouth& teeth | Prominent, long philtrum Thin upper lip Pear-shaped nose | Prominent, long philtrum Thin upper lip Pear-shaped nose Small, carious teeth Large prominent ears | Hypertelorism, Epicanthal folds, Arched eyebrows, Synophrys, Ptosis, Low-set, folded ears Broad nasal bridge, upturned nose High palate, thin upper lip |
Skin, nails & hair | Sparse, thin hair Slow-growing hair Thin eyebrows | Sparse, thin hair, Slow-growing hair, Thin nails, Thin eyebrows | Not mentioned |
Intellectual disability | Severe intellectual disability Delayed speech Poor speech | Normal intelligence | Global developmental delay Intellectual disability Delayed speech Poor or absent speech |
Neurologic and behavior problem | Behavioral problems: Attention deficit | Hypotonia (infancy) | Hypotonia Behavioral problems: Tantrums, Volatile mood, Hand-flapping, Attention deficit-hyperactivity disorder |
Skeletal | Delayed bone age | Delayed bone age before puberty, Cone-shaped epiphyses of middle and proximal phalanges (2nd, 3rd, 4th fingers) | Joint hyperextensibility (1 patient) Scoliosis (1 patient) |
Cardiac | – | Not mentioned | Congenital heart defects (in some patients) |
Gastrointestinal symptom | Constipation | Not mentioned | Feeding difficulties - Constipation - Gastro-esophageal reflux |
Immunologic | – | Not mentioned | Hypogammaglobulinemia (in some patients) - IgA deficiency - IgG deficiency |