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Table 1 Clinical phenotypic features of all four patients

From: KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature

 

F1.IV-1

F1.IV-2

F1.IV-3

F2.IV-2

Age

38

31

23

24

Miscarriages/ neonatal deaths

Nil

Nil

Nil

Nil

Labour

FTND

FTND

FTND

FTND

Delayed Milestones – general

Yes

Yes - mild

Yes - mild

Gross delay

Walking independent

1.5 years

1.5 years

1.5 years

3 years

Speaking two meaningful words

1.5 years

1.5 years

6–7 years

4–5 years

Other salient historical points

NS

NS

NS

Brain imaging done ~ 5 y back, reportedly abnormal, records not available

ID severity

Mild

Mild

Moderate with expressive speech delay

severe

IQ

ND

57

43

29

Behavior

Shy, uncooperative

Cooperative, self-care fair

Social anxiety

Impulsive, irritable, short tempered, stubborn, occasional head-banging, shy/asocial

Height/cm

163

161

Could not be measured

164

Arm-span (164)

Head Circumference/cm

54

55

42

55.5

Chest Circumference/cm

Could not be measured

82

Could not be measured

72

Mid-arm Circumference/cm

Could not be measured

24

Could not be measured

18

Vitals

Could not be measured

BP 124/80 mmHg

Could not be measured

BP 100/60 mmHg

Major Congenital Anomalies

Nil

Nil

Nil

Nil

Minor Congenital Anomalies

High arched palate, low set ears, prominent eyebrows, curly hair, mild beaking of the nose

High arched palate

Could not be examined

Malformed dentition, high arched palate, pointed ear on rt. side, long face, simian crease rt. hand, long thumb, small sub-mental region, cubitus valgus, high-arched foot

External genitalia

Normal

Could not be examined

Could not be examined

normal

Neurological Examination, salient findings

No apparent abnormalities

No apparent abnormalities

No apparent abnormalities

Muscle bulk less, rest of the systemic examination. No apparent abnormalities

  1. Patients F1.IV-2 and F2.IV-2 were examined on 20 Dec 2019. The physical examination findings of the other two patients are from the archives. None of the patients has a history of seizures or other systemic illnesses. NS Nothing significant, ND Not done