Table 1 Literature review of case report with BCOR variant

Age (year)

19

13

21

3

10

10

4

31

16

2

Gender

Female

Female

Male

Female

Female

Female

Female

Female

Female

Female

BCOR variant

IVS11-2delA (c.4596-2delA)

c.2428C > T p.(Arg810*)

c.254C > T p.(Pro85Leu)

c.1209_1210delCC p.(Gln404Alafs*35)

Exon 4 c.265G > A

c.2514del(G)

c.1296delT

n/a

n/a

a de novo heterozygous del Xp11.4

Inheritance

De novo

De novo

Maternal

De novo

Denovo

De novo

De novo

Ocular

Microphthalmia

Left side

Bilateral

Bilateral (severe)

Bilateral

Left eye microphthalmia

Bilateral

Right eye

Anophthalmia

No

Congenital cataract

Bilateral

Bilateral

Bilateral

Bilateral

 + 

 + 

 + 

Bilateral

Glaucoma

n/a

Unilateral

In the right eye

 + 

Strabismus

 + 

 + 

Posterior embryotoxon

n/a

Other

Strabismus, left side

Artificial eye on the left side

Hemangioma near her right eyebrow

Bilateral ptosis, eyebrows curvature; mixed nystagmus; right eye

exohypertropia in primary position

Secondary cataract

Craniofacial

Long, broad face, concave facial profile in a lateral view, broad and protrusive mandible, prominent chin

no

Midface hypoplasia

 + 

 + 

Nasal anomalies

Broad nasal tip with separation of anterior nasal cartilage, bifid nasal tip

 + 

Broadening of the nasal tip

Broad nasal tip

Nasal tip was prominent and bulbous

Broad nasal tip separated nasal cartilage

Broad nasal tip, depressed nasal bridge

Ear anomalies

n/a

 + 

 + 

Preauricular tag

Protruding ears

No

Hearing on the right side is impaired slightly

Depressed nasal bridge

Cleft palate

Bifid uvula

–

 + 

no

no

High arched palate

 + 

 + 

 + 

Other

Thick eyebrows, narrow palate, and mandible, small mouth

Downslanting palpebral fissures, long face, tall forehead, thick eyebrows, Long Philtrum

Elongated, biprotrusive, with a thick lower lip

Flat and slightly long, dovetail-shaped uvula

Broad forehead, bifid uvula

Cardiac

ASD

Ostium secundum atrial septal defect

 + 

no

 + 

 + 

VSD

n/a

no

 + 

Other

Pulmonary artery hypertension, 4/4 leaky tricuspid valves

Triple heart sounds

Patent ductus arteriosus (PDA), persistent left superior vena cava

Dental

Late eruption of first teeth

n/a

 + 

 + 

n/a

Impacted teeth

Tooth 24

Tooth 23 was retracted and extruded

Delayed loss of primary dentition

n/a

 + 

 + 

Radiculomegaly

Canines, premolars, and lower anterior teeth

Tautodontism

Tooth 37

Teeth 13, 22, 23, 33, 34, 43, 44

Fused incisors

No

XQ

Other

Crowding with malposition of teeth 34,44, many dental caries (11,12,16,21,26,32,33,36,43,46,47) and periapical infection of tooth 33 with skin leaking

Double row of teeth

Recurrent dental infections

Abnormal crown canines + incisors

Malocclusion, anterior dental crowding, canines, central incisors, and

first premolars had Open apex

Long roots of her teeth with one missing tooth and first primary tooth loss at 6–7 years of age

Crossbite

Enamel hypoplasia, crown malformation

Lateral crossbite, Oligodontia, enamel hypoplasia,

Glossitis, stomatitis, heavy dental plaque, and calculus

Skeletal

Hands

Long and slender finder

Long Finger

5th Finger clinodactyly, long Finger

Long Finger

n/a

Short

No

Clinodactyly of

the fifth finger

Feet

IV-toes camptodactyly, I-hammer toes, long toes

Long toes

II-hammer toes

n/a

Hammer-type big toes; flexion deformity (2–4 toes of right foot and 2–3 toes of left foot)

No

I-long and wide toe, hammer-type flexion

of toes 2 through 4

Syndactyly 2–3, hammer toe of the second

Other

n/a

Scoliosis

Asymmetry of hand size

Forearm on the right side was slightly shorter

Developmental

ID

No intellect defect

n/a

Motor delay

Mental retardation

 + 

n/a

n/a

No

No

Speech delay

n/a

 + 

n/a

n/a

No

MRI findings

n/a

n/a

n/a

n/a

No

Lipomatous lesion

n/a

N

n/a

n/a

n/a

Other

Moderate BA, broad lateral ventricles

Other findings

GU anomalies

n/a

Urethral hypoplasia, renal dysplasia, renal, failure, VUR

Cryptorchidism, vesicoureteric reflux, primary enuresis

n/a

n/a

n/a

Other

Hypotonia

Primary enuresis

Stage III T-cell lymphoma

Bilateral papilloma of choroid plexus (PCP), supratentorial hydrocephalus

Age (year)

19

8 days

39

8

6

26

15

24

5 weeks

7 months

Gender

Female

Female

Female

Female

Female

Female

Female

Female

Female

Male

BCOR variant

IVS11-2delA (c.4596-2delA)

n/a

c.3490C > T (p.R1164*

p.R1163X (c.3487 C[T)

p. R540Q

Inheritance

De novo

Maternal

Heterozygous

Missense mutation

Microphthalmia

Left side

 + 

 + 

 + 

Anophthalmia

No

Congenital cataract

Bilateral

 + 

 + 

 + 

 + 

 + 

 + 

Glaucoma

n/a

 + 

No

 + 

Strabismus

 + 

Posterior embryotoxon

n/a

Other

Strabismus, left side

Deep-set eyes, short palpebral fissures

Craniofacial

Long, broad face, concave facial profile in a lateral view, broad and protrusive mandible, prominent chin

Midface hypoplasia

 + 

 + 

Nasal anomalies

Broad nasal tip with separation of anterior nasal cartilage, bifid nasal tip

Broad nasal tip

flat nasal bridge

Ear anomalies

n/a

Left hearing impairment

slightly low-set ears

Cleft palate

Bifid uvula

 + 

High arched palate

 + 

 + 

 + 

Other

Thick eyebrows, narrow palate, and mandible, small mouth

Extended long canine teeth, and nasal changes

High forehead

High nasal bridge

Class II malocclusion on a Class III skeletal base with a prognathic mandible, increased facial proportions, and facial asymmetry

long, narrow face

Long and narrow face, high nasal bridge, broad nasal tip with separated cartilages, and a long philtrum

eyebrows were laterally curved and thick

Class II malocclusion with an extremely deep overbite

Deeply set eyes and a broad nasal tip

long and narrow face

Class III malocclusion with a negative overjet and deep overbite

Cardiac

ASD

Ostium secundum atrial septal defect

 + 

-

 + 

 + 

VSD

n/a

 + 

-

 + 

 + 

 + 

Other

Pulmonary artery hypertension, 4/4 leaky tricuspid valves

Pulmonary valve stenosis

Mitral valve prolapse

Double outlet right ventricle, pulmonary stenosis

Prolapsed mitral valve

Patent ductus arteriosus (PDA)

Dental

Late eruption of first teeth

n/a

 + 

 + 

 + 

 + 

Impacted teeth

Tooth 24

Gummy smile, and crowded teeth

Extremely long roots and open apices

Delayed loss of primary dentition

n/a

 + 

 + 

Radiculomegaly

Canines, premolars, and lower anterior teeth

 + 

Tautodontism

Tooth 37

Fused incisors

No

XQ

Teethskeletal class I with severe vertical growth pattern, increased gonial angle, steep mandibular plane with retroclined incisors, and competent lips

Permanent teeth with extremely long roots and open apices. The roots of maxillary canines were in relation with the inferior border of the orbits and the lower canine roots almost reached the lower border of the mandible

The maxillary left central incisor had dilacerated root; all four third molars were congenitally missing

Other

Crowding with malposition of teeth 34,44, many dental caries (11,12,16,21,26,32,33,36,43,46,47) and periapical infection of tooth 33 with skin leaking

Bifid uvula

Numerous missing teeth

The first upper left molar, upper right canine, upper left lateral incisor, first upper left premolar, first upper right molar, first lower right molar, and first lower left molar are absent

Glossitis, stomatitis, heavy dental plaque, and calculus

Skeletal

Hands

Long and slender fingers

Camptodactyly of the 4th and 5th fingers (right > left), proximally placed thumbs, restricted supination, and pronation of the left forearm, camptodactyly and syndactyly of 2nd and 3rd toes, and sandal gap

Elbow radiographs at infancy showed left radioulnar synostosis

Misalignment

Fingers are normal

Feet

IV-toes camptodactyly, I-hammer toes, long toes

Sandal gaps, syndactyly and camptodactyly of toes

Sandal gap between the 1st and 2nd toes

Valgus foot

Syndactly of 2nd and 3rd toes

Right clubfoot, and bilateral 2–3 toe syndactyly

Other

n/a

Misalignment of right second toe

Short stature was observed (122 cm; < 3 SD)

Short stature (111 cm, < 3 SD)

Developmental

No

ID

No intellect defect

 + 

 + 

Motor delay

Mental retardation

 + 

Speech delay

n/a

 + 

MRI findings

n/a

Lipomatous lesion

n/a

Other

Other findings

GU anomalies

n/a

No

Other

Anterior positioning of the anus

Several episodes of hypoglycemia

several episodes of mental confusion associated with a blood glucose level of less

than 40 mg/dL

reactive lymph node

rare congenital disorder

Tall stature

Umbilical hernia at birth

CHD

structural brain anomalies

Axenfeld–Rieger syndrome, Lenz microphthalmia syndrome, and oculo-facio-cardio-dental (OFCD) syndrome