Synopsis of clinical data and molecular analysis in patients with CHILD syndrome
| Family | Clinical description (ref No) | Side | Ipsilateral CHILD naevus | Contralateral CHILD naevus | Ipsilateral extracutaneous defects | NSDHL mutation | |
|---|---|---|---|---|---|---|---|
| Family +/− = familial case, yes or no; R/L = right or left side preferentially affected. | |||||||
| Newly observed NSDHL mutations in CHILD syndrome patients | |||||||
| 1 | − | 12 | R | Diffuse involvement of trunk, linear lesions on thigh | − | Hypoplasia of leg and foot | c.108+2T→G; splice site |
| 2 | − | 13 | R | Widespread linear lesions on trunk and leg, diffuse involvement of groin | Minor linear lesions on hand | Hypoplasia of pelvis and femur; 6th finger at birth | c.208 C→T; p.Q70X |
| 3 | − | 14 | L | Groin | Minor lesions on scalp, neck, soles | Aplasia of one finger | c.314 C→T; p.A105V |
| 4 | + | 15 | L | Diffuse widespread involvement of leg, trunk, and hand | Linear lesions on fingers and toes | Hypoplasia of pelvis and foot | c.314 C→T; p.A105V |
| 5 | + | − | L | Patchy lesions on thigh, groin, and vulva, linear lesions on hand and foot | Nail dystrophy one finger, two toes | Hypoplasia of leg, foot, and skull | c.370 G→A; p.G124S |
| 6 | − | 16 | R | Diffuse involvement of trunk, upper arm and thigh, linear lesions on forearm and lower leg | Minor patchy and linear lesions on leg and foot | Hypoplasia of arm; dysplasia of hip and knee | c.396 C→G; p.C132W |
| 7 | − | 17 | L | Trunk and arm | Hypoplasia of upper arm | c.613 G→A; p.G205S | |
| 8 | + | − | R | Linear lesions on hand, foot, scalp, and forehead | Linear lesion on one finger | Hypoplasia of leg and vertebral column | c.894 G→A; p.W298X |
| 9 | − | 18 | L | Diffuse and patchy involvement of neck and trunk, linear lesions on extremities | Small patches on hand | Hypoplasia of leg and vertebral column; syndactyly of index and middle finger | c.906 C→A; p.Y302X |
| 10 | − | 14 | R | Patchy and linear lesions in body folds | Minor lesions in body folds | Hypoplasia of arm and leg | c.1018 T→C; p.C340R |
| 11 | − | 19 | R | Patchy widespread involvement | − | Elongation of leg; hypoplasia of vertebrae; verrucous involvement of vaginal and gastric mucosae | c.1041_42insCATG; p.G348fs; X358 |
| 12 | − | 20 | R | Diffuse involvement of leg, linear lesions on abdomen and arm | − | Hypoplasia of vertebral column and hand | c.1045 T→C; p.Y349H; c.306C→T; p.F102F |
| 13 | − | 21 | R | Diffuse involvement of trunk, forearm, and leg, extensive linear lesions on upper arm | Hypoplasia of arm and leg; liver lobe hypertrophy; spleen hypertrophy | c.1046 A→G; p.Y349C | |
| 14 | − | − | L | Patchy and linear lesions on trunk and extremities | Patchy and linear lesions on groin and hand | Hypoplasia of foot and vertebral column; ipsilateral deafness; ipsilateral vocal cord paralysis | Complete deletion |
| NSDHL mutations in CHILD syndrome patients as reported previously | |||||||
| 15 | − | 4 | R, male | Extensive linear lesions on trunk and limbs | − | Hypoplasia of leg | c.262C→T; p.R88X |
| 16 | + | 4 | R | Widespread patchy involvement with partial resolution | Small linear lesions on face and arm | Absence of kidney; dilated cerebral ventricles; hypoplasia of limbs and vertebral column | c.314C→T; p.A105V |
| 17 | − | 4 | R | Diffuse widespread unilateral involvement with partial resolution | Linear lesions on hand and thigh | Absence of kidney; hypoplasia of limbs, mandible, ribs, and vertebrae | c.314C→T; p.A105V |
| 18 | − | 8 | R | Involvement of the right axilla, breast, trunk, upper and lower limb, vulva, and perineum | − | Hemidysplasia of right palm; valgity of right coxofemural joint | c.441T→A; p.S147R |
| 19 | − | 6 | L | At birth, erythemathous rash with minimal scaling over the chest wall, linear lesions on leg | − | Hypoplasia of arm, leg, and foot; absence of ribs and hypoplasia of vertebrae; hypoplastic left lung with right shift of cardiac structures; absence of kidney | c.451G→T; p.E151X |
| 20 | − | 5 | R+L | Almost symmetrical involvement of the body folds; right sided involvement of neck | Almost symmetrical involvement of body folds | Hypoplasia of leg and vertebral column; absence of facial muscles | c.544G→C; p.A182P |
| 21 | − | 4 | R | Widespread patchy unilateral involvement | − | Neurosensory hearing loss; absence of arm; hypoplasia of leg | c.613G→A; p.G205S |
| 22 | − | 4 | R | Large patch on the back, linear lesions on limbs | Linear lesions on hand | Neurosensory hearing loss; hypoplasia of vertebral column and foot | c.628C→T; p.Q210X |
| 23 | − | 7 | L | Patchy involvement of neck and axillae, buttocks, lower back, and abdomen | − | Shortening of toes 2, 3, and 4 | c.1046A→G; p.Y349C |