Table 1.

Clinical characteristics of our patient compared with TRPS and OCNDS features

	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

^a Data comes from OMIM (https://www.omim.org)