Table 1 Comparison of clinical features of patients with variants in CHUK reported in the literature and in this report

Mode of inheritance

AR

AR

AD (?)

AR (with de novo paternal variant)

Variant(s)

hom c.1264C > T (p.Gln422*)

hom c.934-2A > G (p.?)

het de novo c.425A > G (p.His142Arg)

comp het c.1388C > A (p.Thr463Lys) / c.1365del (p.Arg457Aspfs*6)

Age

14 and 13 weeks gestation

Infant

10 years

30 months

Sex

Females (2 fetuses)

Female

Female

Male

Family history

Negative

Negative

Negative

Negative

Hair

n.a

Alopecia totalis, absent eyebrows and eyelashes

Sparse hair, absent eyebrows and eyelashes

Sparse short scalp hair, sparse eyebrows

Cranium

Underdeveloped skull bones, abnormal cyst

Wide cranial suture and anterior fontanelle, prominent occiput

n.a

Normal

Ears

n.a

Low set with overfolded helices

n.a

Normal

Eye

Missing eyes, hypoplastic eyeballs

Bilateral microphtalmia, ankyloblepharon, cloudy corneas

Ankyloblepharon

Mild epicanthus, ankyloblepharon

Mouth

Abnormal orifice covered with skin

Cleft lip/palate (bilateral), intraoral bands

Cleft palate (posterior), buccal synechia

Cleft lip/palate (unilateral left)

Nose

Sharp protrusion

Distorted, absent alae nasi

Hypoplastic alae nasi

Depressed flat nasal bridge, alae nasi hypoplasia

Chin

n.a

Micrognatia

Retrognathia

n.a

Chest

n.a

Hypoplastic nipples, short sternum

n.a

Normal

Abdomen

Omphalocele

High umbilical stump, umbilical cord fused to the abdominal wall. No organomegaly

n.a

Soft without organomegaly

Upper extremities

Hypoplastic, encased under skin

Short, bilateral cubital webs

n.a

Normal appearance

Hands

n.a

Small, bilateral syndactyly

Abnormal

Significant 5^th finger clinodactyly. Single creases bilaterally

Lower extremities

Hypoplastic, encased under skin

Very short with popliteal webs extending from the upper thigh to the feet

n.a

Normal appearance. No pterygium

Feet

n.a

Fused forefeet

Bilateral toes syndactyly of three rays with dysmorphic phalanges

Mild 2^nd, 3^rd toe syndactyly

Skin/tegument

Abnormal transparent skin

Skin tags (scalp, right eyelid, umbilical cord, vagina)

Dysplastic nails

Light skin coloration. Mild eczema

Genitalia

n.a

Hypoplasia of the labia majora, labia minora, and clitoris

Hypoplastic external genitalia

n.a

Skeletal survey

Hypoplastic bones

Three metacarpal bones, hypoplasia of proximal phalanges, aplasia of distal phalanges (bilateral), absent foot bones (except the talus; left side), absent calcaneus, absent tarsal bones, hypoplasia of the foot phalanges (right side)

Hypoplastic thumbs and first metacarpals, four metatarsal bones with large proximal extremity of the 4^th ray (left side) and fusion between the 4^th and the 5^th rays (right side)

n.a