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Table 1 Clinical characteristics of patients

From: Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients

 

Sex

Type

Major diagnostic criteria

Genetic diagnosis

Other congenital anomalies

(1)

(2)

(3)

(4)

(5)

1

F

CP

O

O

O

O

O

–

VSD

2

M

CP

O

O

O

O

O

–

 

3

F

CP

O

O

O

O

O

–

ASD / Blepharoptosis, Rt.

4

M

CP

O

O

O

O

O

–

ASD / Scoliosis

5

M

CP

O

O

X

O

O

O (KMT2D)

 

6

M

SMCP

O

O

O

O

O

–

 

7

F

SMCP

O

O

O

X

O

–

 

8

F

SMCP

O

O

O

O

O

O (KMT2D)

Strabismus

9

F

SMCP

O

O

O

O

O

O (KMT2D)

Strabismus

10

F

SMCP

O

O

X

O

O

–

 

11

M

SMCP

O

O

O

X

O

O (KMT2D)

Hypothyroidism, Horseshoe kidney

  1. Major diagnostic criteria
  2. (1) long palpebral fissures with eversion of the lateral third of the lower eyelid
  3. (2) arched and broad eyebrows with the lateral third displaying notching or sparseness
  4. (3) short columella with depressed nasal tip
  5. (4) large, prominent or cupped ears
  6. (5) finger fat pads
  7. CP Cleft palate, SMCP Submucous cleft palate, VSD Ventricular septal defect, ASD Atrial septal defect)
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BMC Pediatrics

ISSN: 1471-2431

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