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Table 1 Clinical features of CdLS patients enrolled to the study

From: Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

  

Individual 1 CdLS24

Individual 2 CdLS62

 

Age

6 years

3 months

Gender

Male

Female

System

Specific feature

  

Facial dysmorphy

Synophrys

+

+

Long eyelashes

+

+

Short nose

+

+

Anteverted nostrils

+

+

Long philtrum

+

+

Broad or depressed nasal bridge

+

+

Thin lips with downturned corners

+

+

Cleft palate

+

+

Low set ears

+

+

Growth

Birth weight (pregnancy week)

2100 g (35 hbd)

1640 g (39 hbd)

Birth length

50 cm

44 cm

Birth head circumference

29 cm

27,5 cm

Postnatal microsomy

+

+

Development

Developmental delays or intellectual disability

+

Ne

Learning disability

+

Ne

Behavior

Attention deficit disorder

+

Ne

Hyperactivity

+

Ne

Self-injurious behavior

+

Ne

Autistic-like features

Ne

Musculoskeletal

Absent arms or forearms

Right hand ectrodactyly

5th finger clinodactyly

+

+

Abnormal palmar crease

+

+

Short 1st knuckle/proximally placed thumb

+

+

Cardiac

Type of malformation

Ventricular septal defect

Tetralogy of Fallot

Gastrointestinal

Poor feeding

+

+

Gastroesophageal reflux

+

+

Skin

Hirsutism

+

+

Cutis marmorata

+

+

Neurologic

Seizures

Hypertony

+

+

Deafness or hearing loss

+

+

Central nervous system malformation

Dandy Walker malformation

Uro genital

Cryptorchidism

+

  1. + feature present, − feature not present, Ne feature not evaluated