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Table 1 Phenotipic features of Noonan-like syndrome with loose anagen hair in our two patients

From: Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

 

Patient 1

Patient 2

Skin and hair

  

Dark skin

+

+

Hyperkeratosis

-

-

Dermatitis/eczema

-

-

Sparse/absent scalp hair

+

+

Curly hair

-

-

Loose anagen hair

+

+

Head and neck

  

Macrocephaly

+

+

Eyes

  

Ptosis

-

+

Epicanthal folds

+

+

Nose

  

Depressed nasal bridge

-

-

Anteverted nostrils

-

-

Oral cavity

  

High-arched palate

-

+

Ears

  

Apparently low-set ears

+

-

Retroverted ears Neck

+

-

Neck

  

Broad, short, webbed

+

+

Chest

  

Pectus excavatum

+

+

Cardiovascular

  

VSD/ASD/PDA

+

-

Cerebral abnormalities

  

Dilated ventricles

-

-

Mental retardation

-

+

Tic

-

+

Growth and development

  

Short stature

+

+

Lymphatic dysplasias

+

-