Table 1 Phenotype and molecular comparison

Gender

M

M

F

ND

Age

12 years

12 years

5 years

ND

Deletions (UCSC hg.19)

chr6:111,884,640-116,594,641

chr6:113,083,368-114,343,715

chr6:113,044,405-114,771,988

chr6:113,106,907-115,325,935

Inheritance

Mother normal/father not available

Unknown

De novo

ND

Weight

50-75th

55th

−2 DS (14 kg)

+0.4 SD

Height

75-90th

50th

−1 DS (104 cm)

−1.2 SD

OFC

3rd-10th

−1,4 SD

−2 DS (48 cm)

−7.2 SD

DD

+

+

+

+

ID

+

+

+

+

Hypotonia

-

-

Moderate

Right hemiplegia with brisk reflexes and spasticity

Brain Malformation

Cerebellar vermis hypoplasia

-

Corpus callosum hypoplasia

Reduction in volume in the left hemi cranium with cystic cerebromalacia.

Cortical dysplasia

Thin corpus callosum

Other neurological features

-

-

Dysexecutive syndrome

Epilepsy

Ophtalmologic features

Exotropia, bilateral myopia

Strabismus

Strabismus (exophoria/exotropia)

Moderate cerebral visual impairment

Dysmorphic features

Hypertelorism, wide and flat nose

Hypertelorism, wide nasal bridge, narrow nasal tip, long nose

Triangular face, retrognathism, low set ears, smooth philtrum

Hypertelorism, prominent simple ears

Limbs

-

Long and slender fingers and toes

ND

-

Skeletal features

Pectus excavatum, chest asymmetry, thoracic scoliosis and vertebral rotation

Pectus carenatum

ND

Required reconstruction of right hip probably secondary to hemiplegia

Muscle features

Absence of the pectoralis major and minor muscles (Poland Syndrome)

-

ND

-

Other

-

Hyperextensible joints

Constipation

Deleted region

chr6:111,884,640-116,594,641

chr6:113,190,061-114,450,408

chr6:113,044,405-114,771,988

chr6:113,106,907-115,325,935

Genes

TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1

MARCKS, HDAC2, HS3ST5

MARCKS, HDAC2, HS3ST5

MARCKS, HDAC2, HS3ST5