Table 1 Clinical features of patients with XRCC4-related MPD, in our series and in addition to patients in the literature.

From: XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

 

Present cases

%

Total cases

%

Details

Patients

7

 

24

  

Families

6

 

18

  

Sex

3F/4M

 

8F/16M

  

Antenatal, Birth, Neonatal

 IUGR

(7/7)

100

(21/21)

100

 

 Other antenatal abnormality

(3/7)

43

(6/24)

25

(a)

 Premature delivery

(3/6)

50

(7/16)

47

 

 Birth weight: mean SD (min; max)

−2,7 (−2; −4)

 

−3 (−1,3 ; −5,3)

  

 Birth length: mean SD (min; max)

−3,7 (−0,5; −7,5)

 

−3,8 (−0,5; −7,5)

  

 Birth OFC: mean SD (min; max)

−3,6 (−2,2; −4,5)

 

−3,6 (−1,8; −4,8)

  

Growth

 Short stature

(6/6)

100

(22/22)

100

 

 Microcephaly

(6/6)

100

(20/20)

100

 

 Weight at last assessment: mean SD (min; max)

−5,1 (−3,8; −7)

 

−5,2 (−3,8; −7)

  

 Height at last assessment: mean SD (min; max)

−6,0 (−3,7; −7)

 

−5,1 (−1,8; −7,2)

  

 OFC at last assessment: mean SD (min; max)

−8,2 (−4,4; −10,3)

 

−7,3 (−2,9; −11)

  

Neurodevelopment

 Developmental delay

(5/6)

83.33

(14/17)

82

 

 Intellectual disability

(5/5)

100

(12/14)

86

(b)

 Motor developmental delay

(3/6)

50

(3/9)

33

 

 Speech delay

(5/6)

83.33

(8/9)

89

 

Neurological abnormalities

 Tremor

(2/6)

33.33

(2/23)

9

 

 Ataxia

(0/6)

0

(3/23)

13

 

 Sensory neuropathy

(0/6)

0

(3/23)

13

 

 Pyramidal sign

(2/6)

33.33

(5/23)

22

 

 Muscle weakness

(0/6)

0

(2/23)

9

 

 Cognitive deterioration

(0/6)

0

(2/23)

9

 

 Seizures

(1/6)

16.67

(1/23)

4

 

 Brain MRI abnormalities

(1/6)

16.67

(5/24)

21

(c)

Sensorial abnormalities

 Hearing impairment / Deafness

(0/6)

0

(1/23)

4

(d)

 Visual impairment

(2/6)

33.33

(5/23)

22

(e)

Craniofacial abnormalities

 Triangular face

(4/6)

66.67

(11/19)

58

 

 Slopping forehead

(3/6)

50

(6/19)

32

 

 Low set ears

(6/6)

100

(6/19)

32

 

 Hypotelorism

(0/6)

0

(4/19)

21

 

 Deep-set eyes

(4/6)

66.67

(9/19)

47

 

 Prominent beaked nose

(4/6)

66.67

(9/19)

47

 

 Low columella

(4/6)

66.67

(9/19)

47

 

 Short philtrum

(4/6)

66.67

(7/19)

37

 

 Dental abnormalities

(2/6)

33.33

(3/19)

16

(f)

 Pointed chin

(4/6)

66.67

(9/19)

47

 

Skeletal abnormalities

 Fifth finger clinodactyly

(2/6)

33.33

(5/23)

22

 

 Delayed bone age

(2/6)

33.33

(3/23)

13

 

 Syndactyly of 2–3 toes

(1/6)

16.67

(2/23)

9

 

 Short 4th and 5th metatarsals

(3/6)

50

(3/23)

13

 

 Broad thumbs

(1/6)

16.67

(1/23)

4

 

 Equinovarus feet

(1/6)

16.67

(1/23)

4

 

 Pes cavus

(0/6)

0

(2/23)

9

 

Visceral abnormalities

 Cardiac

(0/6)

0

(3/23)

13

(g)

 Renal

(1/6)

16

(3/23)

13

(h)

 Genital

  Male

(2/3)

66

(7/15)

47

(i)

  Female

(1/3)

33

(1/8)

13

(j)

 Gastrointestinal

(1/6)

16

(2/23)

9

(k)

Dermatological abnormalities

 Acanthosis nigricans

(1/6)

16

(3/23)

13

 

 Pigmented and depigmented spots

(1/6)

16

(1/23)

4

 

 Eczema

(0/6)

0

(1/23)

4

 

 Hands hyperhydrosis

(1/6)

16

(1/23)

4

 

Hematological abnormalities

 Anemia

(1/6)

16

(3/23)

13

 

 Lymphopenia

(3/6)

50

(6/23)

26

 

 Neutropenia

(1/6)

16

(3/23)

13

 

 Thrombocytopenia

(1/6)

16

(3/23)

13

 

 Pancytopenia

(1/6)

16

(1/23)

4

 

 Abnormal Ig profile

(1/6)

16

(1/23)

4

 

Metabolic and endocrine dysfunction

 Type 2 diabetes/glucose intolerance

(3/6)

50

(8/23)

35

 

 Dyslipidemia

(3/6)

50

(7/23)

30

 

 Hypergonadotropic hypogonadism

(2/6)

33

(6/23)

26

 

 Hypothyroidism

(0/6)

0

(3/23)

13

 

 Multinodular goiter

(0/6)

0

(2/23)

9

 

 Hepatic steatosis

(1/6)

16

(1/23)

4

 

Other

 Feeding difficulties

(3/6)

50

(5/23)

22

(l)

 History of cancer or neoplasia

(2/6)

33

(4/23)

17

(m)

 Defective thermoregulation

(1/6)

16

(1/23)

4

 
  1. IUGR Intra-Uterine Growth Restriction, SD c, OFC Occipital-Frontal head Circumference, MRI Magnetic Resonance Imaging
  2. (a) oligohydramnios 2/22, ventriculomegaly 1/22, unilateral renal hypoplasia 1/22, transient increase in nuchal translucency 1/22; (b) mild 5/8, moderate 2/8, severe 1/8; (c) ventriculomegaly 2/22, vermis atrophy 2/22, thin corpus callosum 1/22, small caudate nuclei 1/22, simplified gyral pattern 1/22, pituitary hypoplasia 1/22; (d) moderate hearing loss 1/22; (e) bilateral cataract 1/22, bilateral glaucoma 1/22, strabismus 1/22, astigmatism 1/22, hyperopia 2/22; (f) oligodontia 1/18, microdontia 1/18, malpositioned teeth 1/18; (g) dilated cardiomyopathy 3/3; (h) hypoplasia 2/22, ectopic kidney 1/22, unilateral agenesis 1/22; (i) cryptorchidism 7/15, micropenis 2/15; (j) hypoplastic labia minor 1/7; (k) severe gastroesophageal reflux 1/22, inguinal hernia 1/22; (l) requiring gastrostomy in 4/5 cases; (m) dermatofibrosarcoma 1/4, mandibular osteoid osteoma 1/4, thalamic glioma 1/4, jejunal GIST 1/4.
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