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Table 1 Clinical characteristics of our patient compared with TRPS and OCNDS features

From: Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report

 

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

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